########################################### ___ ___ ___ ___ ___ ___ ___ / /\ / /\ / /\ /__/\ / /\ /__/\ / /\ ___ / /::\ / /::\ / /::\ \ \:\ / /::\ \ \:\ / /:/_ / /\ / /:/\:\ / /:/\:\ / /:/\:\ \__\:\ / /:/\:\ \ \:\ / /:/ /\ / /:/ / /:/ \:\ / /:/~/:/ / /:/~/:/ ___ / /::\ / /:/~/::\ _____\__\:\ / /:/ /:/_ / /:/ /__/:/ \__\:\ /__/:/ /:/___ /__/:/ /:/ /__/\ /:/\:\ /__/:/ /:/\:\ /__/::::::::\ /__/:/ /:/ /\ / /::\ \ \:\ / /:/ \ \:\/:::::/ \ \:\/:/ \ \:\/:/__\/ \ \:\/:/__\/ \ \:\~~\~~\/ \ \:\/:/ /:/ /__/:/\:\ \ \:\ /:/ \ \::/~~~~ \ \::/ \ \::/ \ \::/ \ \:\ ~~~ \ \::/ /:/ \__\/ \:\ \ \:\/:/ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\/:/ \ \:\ \ \::/ \ \:\ \ \:\ \ \:\ \ \:\ \ \:\ \ \::/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ \__\/ ___ ___ ___ ___ / /\ / /\ / /\ / /\ / /::\ / /::\ / /::\ / /:/_ / /:/\:\ / /:/\:\ / /:/\:\ / /:/ /\ / /:/~/:/ / /:/~/::\ / /:/~/:/ / /:/ /:/_ /__/:/ /:/___ /__/:/ /:/\:\ /__/:/ /:/___ /__/:/ /:/ /\ \ \:\/:::::/ \ \:\/:/__\/ \ \:\/:::::/ \ \:\/:/ /:/ \ \::/~~~~ \ \::/ \ \::/~~~~ \ \::/ /:/ \ \:\ \ \:\ \ \:\ \ \:\/:/ \ \:\ \ \:\ \ \:\ \ \::/ \__\/ \__\/ \__\/ \__\/ _____ ___ ___ ___ ___ ___ / /::\ ___ / /\ / /\ / /\ / /\ / /\ / /:/\:\ / /\ / /:/_ / /:/_ / /::\ / /:/_ / /:/_ / /:/ \:\ / /:/ / /:/ /\ / /:/ /\ / /:/\:\ / /:/ /\ / /:/ /\ /__/:/ \__\:| /__/::\ / /:/ /::\ / /:/ /:/_ / /:/~/::\ / /:/ /::\ / /:/ /:/_ \ \:\ / /:/ \__\/\:\__ /__/:/ /:/\:\ /__/:/ /:/ /\ /__/:/ /:/\:\ /__/:/ /:/\:\ /__/:/ /:/ /\ \ \:\ /:/ \ \:\/\ \ \:\/:/~/:/ \ \:\/:/ /:/ \ \:\/:/__\/ \ \:\/:/~/:/ \ \:\/:/ /:/ \ \:\/:/ \__\::/ \ \::/ /:/ \ \::/ /:/ \ \::/ \ \::/ /:/ \ \::/ /:/ \ \::/ /__/:/ \__\/ /:/ \ \:\/:/ \ \:\ \__\/ /:/ \ \:\/:/ \__\/ \__\/ /__/:/ \ \::/ \ \:\ /__/:/ \ \::/ \__\/ \__\/ \__\/ \__\/ \__\/ ___ ___ ___ ___ ___ / /\ /__/\ ___ / /\ / /\ / /\ ___ / /::\ \ \:\ / /\ / /::\ / /::\ / /:/_ /__/| / /:/\:\ \ \:\ / /:/ / /:/\:\ ___ ___ / /:/\:\ / /:/ /\ | |:| / /:/ \:\ _____\__\:\ / /:/ / /:/ \:\ /__/\ / /\ / /:/ \:\ / /:/_/::\ | |:| /__/:/ \__\:\ /__/::::::::\ / /::\ /__/:/ \__\:\ \ \:\ / /:/ /__/:/ \__\:\ /__/:/__\/\:\ __|__|:| \ \:\ / /:/ \ \:\~~\~~\/ /__/:/\:\ \ \:\ / /:/ \ \:\ /:/ \ \:\ / /:/ \ \:\ /~~/:/ /__/::::\ \ \:\ /:/ \ \:\ ~~~ \__\/ \:\ \ \:\ /:/ \ \:\/:/ \ \:\ /:/ \ \:\ /:/ ~\~~\:\ \ \:\/:/ \ \:\ \ \:\ \ \:\/:/ \ \::/ \ \:\/:/ \ \:\/:/ \ \:\ \ \::/ \ \:\ \__\/ \ \::/ \__\/ \ \::/ \ \::/ \__\/ ########################################### ORPHANET RARE DISEASE ONTOLOGY Release notes : Version: 2.0 Date : 12th Jan 2015 The ORDO version 2.0 represents a major release of the ontology. It comes with addition of several new classes and relationships. We have added more Epidemiology data such as - Annual Incidence, Case/Family, prevalence at birth and lifetime prevalence. We also have added gain/loss of function of gene along with chromosomal location for the gene. The genetic material has now sub-types. The geographical location has also been added. In addition to this the annotation for the database cross-references mapping types have also been added i.e. if its a Narrow term mapped to Broader term etc. More modes of inheritance has also been included. 1. No. of classes modified: 11871 2. No. of classes that have been added: 233 3. No. of classes that have been deleted: 66 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_123198 Label: MER proto-oncogene, tyrosine kinase - 'MER proto-oncogene, tyrosine kinase' SubClassOf 'gene' - 'MER proto-oncogene, tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'MER proto-oncogene, tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'MER proto-oncogene, tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MER proto-oncogene, tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123196 Label: multiple endocrine neoplasia I - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zollinger-Ellison syndrome' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' - 'multiple endocrine neoplasia I' SubClassOf 'gene' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' - 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' + 'multiple endocrine neoplasia I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zollinger-Ellison syndrome' + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial parathyroid adenoma' + 'multiple endocrine neoplasia I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' + 'multiple endocrine neoplasia I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_121053 Label: desmin - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desminopathy' - 'desmin' SubClassOf 'gene' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' - 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1E' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' + 'desmin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desminopathy' + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' + 'desmin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'desmin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1E' Class: http://www.orpha.net/ORDO/Orphanet_121059 Label: deoxyguanosine kinase - 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' - 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' - 'deoxyguanosine kinase' SubClassOf 'gene' + 'deoxyguanosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' + 'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' + 'deoxyguanosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254424 Label: Annular lichen planus - 'Annular lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Annular lichen planus' SubClassOf 'disease' - 'Annular lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Annular lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Annular lichen planus' SubClassOf 'disease' + 'Annular lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Annular lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_121056 Label: deafness, autosomal dominant 5 - 'deafness, autosomal dominant 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'deafness, autosomal dominant 5' SubClassOf 'gene' + 'deafness, autosomal dominant 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'deafness, autosomal dominant 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'deafness, autosomal dominant 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_324761 Label: Microcephalic primordial dwarfism - 'Microcephalic primordial dwarfism' SubClassOf 'group of disorders' + 'Microcephalic primordial dwarfism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324764 Label: Trichorhinophalangeal syndrome - 'Trichorhinophalangeal syndrome' SubClassOf 'group of disorders' + 'Trichorhinophalangeal syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325537 Label: 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors - '46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors' SubClassOf 'group of disorders' + '46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123191 Label: Mediterranean fever - 'Mediterranean fever' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial Mediterranean fever' - 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' - 'Mediterranean fever' SubClassOf 'gene' - 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'Mediterranean fever' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial Mediterranean fever' + 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis' + 'Mediterranean fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'Mediterranean fever' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'Mediterranean fever' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_324767 Label: Non-familial rare disease with dilated cardiomyopathy - 'Non-familial rare disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial rare disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168960 Label: Refractory anemia with excess blasts in transformation - 'Refractory anemia with excess blasts in transformation' SubClassOf 'disease' - 'Refractory anemia with excess blasts in transformation' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Refractory anemia with excess blasts in transformation' SubClassOf 'disease' + 'Refractory anemia with excess blasts in transformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_121062 Label: 24-dehydrocholesterol reductase - '24-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmosterolosis' - '24-dehydrocholesterol reductase' SubClassOf 'gene' + '24-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '24-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desmosterolosis' + '24-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121066 Label: 7-dehydrocholesterol reductase - '7-dehydrocholesterol reductase' SubClassOf 'gene' - '7-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Lemli-Opitz syndrome' + '7-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string + '7-dehydrocholesterol reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Lemli-Opitz syndrome' + '7-dehydrocholesterol reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_168966 Label: Composite lymphoma - 'Composite lymphoma' SubClassOf 'disease' - 'Composite lymphoma' SubClassOf 'part_of' some 'Lymphoma' + 'Composite lymphoma' SubClassOf 'disease' + 'Composite lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_121069 Label: desert hedgehog - 'desert hedgehog' SubClassOf 'gene' - 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY gonadal dysgenesis - motor and sensory neuropathy' - 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'desert hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desert hedgehog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY gonadal dysgenesis - motor and sensory neuropathy' + 'desert hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_156532 Label: Rare syndrome with cardiac malformations - 'Rare syndrome with cardiac malformations' SubClassOf 'group of disorders' + 'Rare syndrome with cardiac malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254411 Label: Annular atrophic lichen planus - 'Annular atrophic lichen planus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Annular atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Annular atrophic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Annular atrophic lichen planus' SubClassOf 'disease' + 'Annular atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Annular atrophic lichen planus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Annular atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Annular atrophic lichen planus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_325546 Label: Sex chromosome disorder of sex development - 'Sex chromosome disorder of sex development' SubClassOf 'group of disorders' + 'Sex chromosome disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221339 Label: lamin B2 - 'lamin B2' SubClassOf 'gene' - 'lamin B2' SubClassOf 'Major susceptibility factor in' some 'Partial acquired lipodystrophy' + 'lamin B2' SubClassOf 'Major susceptibility factor in' some 'Partial acquired lipodystrophy' + 'lamin B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_404584 Label: Rare genetic bone development disorder - 'Rare genetic bone development disorder' SubClassOf 'group of disorders' + 'Rare genetic bone development disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121073 Label: diaphanous-related formin 1 - 'diaphanous-related formin 1' SubClassOf 'gene' - 'diaphanous-related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diaphanous-related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269646 Label: family with sequence similarity 20, member A - 'family with sequence similarity 20, member A' SubClassOf 'gene' - 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta - nephrocalcinosis' - 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta and gingival hyperplasia syndrome' + 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta - nephrocalcinosis' + 'family with sequence similarity 20, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelogenesis imperfecta and gingival hyperplasia syndrome' + 'family with sequence similarity 20, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'family with sequence similarity 20, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_240651 Label: G-protein signaling modulator 2 - 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-McCullough syndrome' - 'G-protein signaling modulator 2' SubClassOf 'gene' + 'G-protein signaling modulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'G-protein signaling modulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chudley-McCullough syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168999 Label: Malignant melanoma of the mucosa - 'Malignant melanoma of the mucosa' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malignant melanoma of the mucosa' SubClassOf 'disease' - 'Malignant melanoma of the mucosa' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Malignant melanoma of the mucosa' SubClassOf 'disease' + 'Malignant melanoma of the mucosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant melanoma of the mucosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_77828 Label: Genetic obesity - 'Genetic obesity' SubClassOf 'group of disorders' + 'Genetic obesity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221348 Label: small nuclear ribonucleoprotein 200kDa (U5) - 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'gene' - 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'small nuclear ribonucleoprotein 200kDa (U5)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_221346 Label: neuroblastoma RAS viral (v-ras) oncogene homolog - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Large congenital melanocytic nevus' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'gene' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune leukoproliferative disease' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Large congenital melanocytic nevus' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_77830 Label: Rare genetic odontologic disease - 'Rare genetic odontologic disease' SubClassOf 'group of disorders' + 'Rare genetic odontologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_221342 Label: transmembrane protein 216 - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'transmembrane protein 216' SubClassOf 'gene' - 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'transmembrane protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'transmembrane protein 216' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 216' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_404580 Label: Juvenile polyarthritis - 'Juvenile polyarthritis' SubClassOf 'group of disorders' + 'Juvenile polyarthritis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325511 Label: 46,XY disorder of sex development due to cholesterol synthesis defect - '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404574 Label: Genetic syndrome with limb reduction defects - 'Genetic syndrome with limb reduction defects' SubClassOf 'group of disorders' + 'Genetic syndrome with limb reduction defects' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121086 Label: disrupted in renal carcinoma 2 - 'disrupted in renal carcinoma 2' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'disrupted in renal carcinoma 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404577 Label: Genetic syndrome with limb malformations as a major feature - 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' - 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Congenital limb malformation' + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Genetic congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_121084 Label: disrupted in renal carcinoma 1 - 'disrupted in renal carcinoma 1' SubClassOf 'gene' - 'disrupted in renal carcinoma 1' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_168984 Label: CLAPO syndrome - 'CLAPO syndrome' SubClassOf 'part_of' some 'Lymphatic malformation' - 'CLAPO syndrome' SubClassOf 'malformation syndrome' - 'CLAPO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLAPO syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CLAPO syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'CLAPO syndrome' SubClassOf 'malformation syndrome' + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'CLAPO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphatic malformation' + 'CLAPO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'CLAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_240663 Label: Kruppel-like factor 1 (erythroid) - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'gene' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type IV' - 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type IV' + 'Kruppel-like factor 1 (erythroid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Kruppel-like factor 1 (erythroid)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'Kruppel-like factor 1 (erythroid)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' Class: http://www.orpha.net/ORDO/Orphanet_306122 Label: phosphoinositide-3-kinase, regulatory subunit 2 (beta) - 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'gene' - 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoinositide-3-kinase, regulatory subunit 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_240658 Label: tyrosyl-tRNA synthetase 2, mitochondrial - 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_325524 Label: Classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' - 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_238998 Label: phosphodiesterase 6G, cGMP-specific, rod, gamma - 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'gene' - 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6G, cGMP-specific, rod, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_221356 Label: lipoxygenase homology domains 1 - 'lipoxygenase homology domains 1' SubClassOf 'gene' - 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'lipoxygenase homology domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'lipoxygenase homology domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_325529 Label: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_238991 Label: histone deacetylase 4 - 'histone deacetylase 4' SubClassOf 'gene' - 'histone deacetylase 4' SubClassOf 'Role in the phenotype of' some '2q37 microdeletion syndrome' + 'histone deacetylase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histone deacetylase 4' SubClassOf 'Role in the phenotype of' some '2q37 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404571 Label: Dysostosis of genetic origin with limb anomaly as a major feature - 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_360173 Label: myosin, heavy chain 7B, cardiac muscle, beta - 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' - 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'gene' + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 7B, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121012 Label: deleted in azoospermia 1 - 'deleted in azoospermia 1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 1' SubClassOf 'gene' + 'deleted in azoospermia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.223"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 1' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_1486 Label: Lethal congenital contracture syndrome type 1 - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Lethal congenital contracture syndrome' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'malformation syndrome' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lethal congenital contracture syndrome type 1' SubClassOf 'part_of' some 'Thoracic malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal congenital contracture syndrome' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Lethal congenital contracture syndrome type 1' SubClassOf 'malformation syndrome' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_123158 Label: matrilin 3 - 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 5' - 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' - 'matrilin 3' SubClassOf 'gene' + 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia type 5' + 'matrilin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' + 'matrilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24-p23"^^http://www.w3.org/2001/XMLSchema#string + 'matrilin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1487 Label: Cooks syndrome - 'Cooks syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cooks syndrome' SubClassOf 'malformation syndrome' - 'Cooks syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cooks syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cooks syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Cooks syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cooks syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Cooks syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Cooks syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cooks syndrome' SubClassOf 'malformation syndrome' + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Cooks syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cooks syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cooks syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121018 Label: deleted in azoospermia 3 - 'deleted in azoospermia 3' SubClassOf 'gene' - 'deleted in azoospermia 3' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'deleted in azoospermia 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11.223"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 3' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_1488 Label: Cooper-Jabs syndrome - 'Cooper-Jabs syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cooper-Jabs syndrome' SubClassOf 'malformation syndrome' - 'Cooper-Jabs syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cooper-Jabs syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf 'malformation syndrome' + 'Cooper-Jabs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cooper-Jabs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cooper-Jabs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_252202 Label: Constitutional mismatch repair deficiency syndrome - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'disease' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'disease' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1489 Label: Whooping cough - 'Whooping cough' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Whooping cough' SubClassOf 'disease' + 'Whooping cough' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Whooping cough' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121016 Label: deleted in azoospermia 2 - 'deleted in azoospermia 2' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 2' SubClassOf 'gene' + 'deleted in azoospermia 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'deleted in azoospermia 2' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' Class: http://www.orpha.net/ORDO/Orphanet_240672 Label: apolipoprotein L, 1 - 'apolipoprotein L, 1' SubClassOf 'gene' - 'apolipoprotein L, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'apolipoprotein L, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein L, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'apolipoprotein L, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_404568 Label: Dysostosis of genetic origin - 'Dysostosis of genetic origin' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1482 Label: Gonococcal conjunctivitis - 'Gonococcal conjunctivitis' SubClassOf 'part_of' some 'Rare inflammatory eye disease' - 'Gonococcal conjunctivitis' SubClassOf 'disease' + 'Gonococcal conjunctivitis' SubClassOf 'disease' + 'Gonococcal conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' Class: http://www.orpha.net/ORDO/Orphanet_123154 Label: microtubule associated serine/threonine kinase-like - 'microtubule associated serine/threonine kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' - 'microtubule associated serine/threonine kinase-like' SubClassOf 'gene' + 'microtubule associated serine/threonine kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'microtubule associated serine/threonine kinase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microtubule associated serine/threonine kinase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_1484 Label: Contractures - ectodermal dysplasia - cleft lip/palate - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'malformation syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1485 Label: Arthrogryposis - hyperkeratosis, lethal form - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_254463 Label: Lichen planus pigmentosus - 'Lichen planus pigmentosus' SubClassOf 'disease' - 'Lichen planus pigmentosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lichen planus pigmentosus' SubClassOf 'has_prevalence' some 'Unknown' - 'Lichen planus pigmentosus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Lichen planus pigmentosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Lichen planus pigmentosus' SubClassOf 'disease' + 'Lichen planus pigmentosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1480 Label: Ventricular septal defect - 'Ventricular septal defect' SubClassOf 'has_prevalence' some '1 / 1000' - 'Ventricular septal defect' SubClassOf 'group of disorders' - 'Ventricular septal defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "418.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'group of disorders' + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "272.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ventricular septal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "444.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Ventricular septal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_404560 Label: Familial atypical multiple mole melanoma syndrome - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'disease' - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'disease' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_353921 Label: chloride channel accessory 4 - 'chloride channel accessory 4' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' - 'chloride channel accessory 4' SubClassOf 'gene' + 'chloride channel accessory 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel accessory 4' SubClassOf 'Modifying germline mutation in' some 'Cystic fibrosis' + 'chloride channel accessory 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182058 Label: Primary orthostatic hypotension - 'Primary orthostatic hypotension' SubClassOf 'group of disorders' + 'Primary orthostatic hypotension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182054 Label: Rare thrombotic disease of hematologic origin - 'Rare thrombotic disease of hematologic origin' SubClassOf 'group of disorders' + 'Rare thrombotic disease of hematologic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280062 Label: Calciphylaxis - 'Calciphylaxis' SubClassOf 'group of disorders' + 'Calciphylaxis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Calciphylaxis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Calciphylaxis' SubClassOf 'group of disorders' + 'Calciphylaxis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_182050 Label: MYH9-related disease - 'MYH9-related disease' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'MYH9-related disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MYH9-related disease' SubClassOf 'disease' - 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'MYH9-related disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'MYH9-related disease' SubClassOf 'part_of' some 'Primary glomerular disease' + 'MYH9-related disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'MYH9-related disease' SubClassOf 'disease' + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'MYH9-related disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MYH9-related disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_280065 Label: Calciphylaxis cutis - 'Calciphylaxis cutis' SubClassOf 'part_of' some 'Calciphylaxis' - 'Calciphylaxis cutis' SubClassOf 'disease' - 'Calciphylaxis cutis' SubClassOf 'part_of' some 'Skin vascular disease' + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Calciphylaxis' + 'Calciphylaxis cutis' SubClassOf 'disease' + 'Calciphylaxis cutis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_401370 Label: cyclin D2 - 'cyclin D2' SubClassOf 'gene' - 'cyclin D2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin D2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_280068 Label: Visceral calciphylaxis - 'Visceral calciphylaxis' SubClassOf 'part_of' some 'Calciphylaxis' - 'Visceral calciphylaxis' SubClassOf 'disease' + 'Visceral calciphylaxis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Calciphylaxis' + 'Visceral calciphylaxis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_240669 Label: centrosomal protein 152kDa - 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'centrosomal protein 152kDa' SubClassOf 'gene' - 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 152kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 152kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'centrosomal protein 152kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269639 Label: alanyl-tRNA synthetase 2, mitochondrial - 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 8' + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'alanyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 8' Class: http://www.orpha.net/ORDO/Orphanet_240686 Label: chromobox homolog 2 - 'chromobox homolog 2' SubClassOf 'gene' - 'chromobox homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'chromobox homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromobox homolog 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' + 'chromobox homolog 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121025 Label: dihydrolipoamide branched chain transacylase E2 - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'gene' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'dihydrolipoamide branched chain transacylase E2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermittent maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermediate maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thiamine-responsive maple syrup urine disease' + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dihydrolipoamide branched chain transacylase E2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306182 Label: dystonia 2, torsion (autosomal recessive) - 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT2 type' - 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'gene' + 'dystonia 2, torsion (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 2, torsion (autosomal recessive)' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT2 type' + 'dystonia 2, torsion (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "reserved"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121027 Label: DNA cross-link repair 1C - 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DCLRE1C deficiency' - 'DNA cross-link repair 1C' SubClassOf 'gene' + 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'DNA cross-link repair 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to DCLRE1C deficiency' + 'DNA cross-link repair 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'DNA cross-link repair 1C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_306184 Label: dystonia 17 - 'dystonia 17' SubClassOf 'gene' - 'dystonia 17' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT17 type' + 'dystonia 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.22-q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 17' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT17 type' Class: http://www.orpha.net/ORDO/Orphanet_1497 Label: X-linked complicated corpus callosum dysgenesis - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'part_of' some 'L1 syndrome' - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked complicated corpus callosum dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1495 Label: Intellectual disability - hypoplastic corpus callosum - preauricular tag - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'malformation syndrome' - 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'malformation syndrome' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_123167 Label: methylcrotonoyl-CoA carboxylase 2 (beta) - 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'gene' - 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 2 (beta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1496 Label: Corpus callosum agenesis - neuronopathy - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'disease' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corpus callosum agenesis - neuronopathy' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corpus callosum agenesis - neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "47.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corpus callosum agenesis - neuronopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1493 Label: Vici syndrome - 'Vici syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vici syndrome' SubClassOf 'malformation syndrome' - 'Vici syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Vici syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Vici syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Vici syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Vici syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Vici syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Vici syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vici syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Vici syndrome' SubClassOf 'malformation syndrome' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Vici syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123164 Label: methylcrotonoyl-CoA carboxylase 1 (alpha) - 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'gene' - 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' + 'methylcrotonoyl-CoA carboxylase 1 (alpha)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121020 Label: deleted in azoospermia 4 - 'deleted in azoospermia 4' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' - 'deleted in azoospermia 4' SubClassOf 'gene' + 'deleted in azoospermia 4' SubClassOf 'Candidate gene tested in' some 'Partial chromosome Y deletion' + 'deleted in azoospermia 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yq11"^^http://www.w3.org/2001/XMLSchema#string + 'deleted in azoospermia 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1492 Label: Corpus callosum agenesis - double urinary collecting system - 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'malformation syndrome' - 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Corpus callosum agenesis - double urinary collecting system' SubClassOf 'malformation syndrome' + 'Corpus callosum agenesis - double urinary collecting system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label: Vasculitis due to ADA2 deficiency - 'Vasculitis due to ADA2 deficiency' SubClassOf 'disease' - 'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Vasculitis due to ADA2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123161 Label: melanocortin 2 receptor (adrenocorticotropic hormone) - 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'gene' - 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial glucocorticoid deficiency' + 'melanocortin 2 receptor (adrenocorticotropic hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121022 Label: dopamine beta-hydroxylase (dopamine beta-monooxygenase) - 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'gene' - 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopamine beta-hydroxylase deficiency' + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dopamine beta-hydroxylase (dopamine beta-monooxygenase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dopamine beta-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1490 Label: Corneal dystrophy - perceptive deafness - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'malformation syndrome' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corneal dystrophy - perceptive deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corneal dystrophy - perceptive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Corneal dystrophy - perceptive deafness' SubClassOf 'malformation syndrome' + 'Corneal dystrophy - perceptive deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal dystrophy - perceptive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_182047 Label: Rare acquired hemolytic anemia - 'Rare acquired hemolytic anemia' SubClassOf 'group of disorders' + 'Rare acquired hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_238973 Label: interleukin 12 receptor, beta 2 - 'interleukin 12 receptor, beta 2' SubClassOf 'gene' - 'interleukin 12 receptor, beta 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 12 receptor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3-p31.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 12 receptor, beta 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'interleukin 12 receptor, beta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_182043 Label: Rare constitutional hemolytic anemia - 'Rare constitutional hemolytic anemia' SubClassOf 'group of disorders' + 'Rare constitutional hemolytic anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182040 Label: Medullar aplasia - 'Medullar aplasia' SubClassOf 'group of disorders' + 'Medullar aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306189 Label: E74-like factor 4 (ets domain transcription factor) - 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'Candidate gene tested in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' - 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'gene' + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'E74-like factor 4 (ets domain transcription factor)' SubClassOf 'Candidate gene tested in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_360196 Label: formin binding protein 4 - 'formin binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' - 'formin binding protein 4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_35701 Label: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'part_of' some 'Disorder of ketone body metabolism' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ketone body metabolism' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1464 Label: Univentricular heart - 'Univentricular heart' SubClassOf 'part_of' some 'Univentricular cardiopathy' - 'Univentricular heart' SubClassOf 'morphological anomaly' + 'Univentricular heart' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Univentricular heart' SubClassOf 'morphological anomaly' + 'Univentricular heart' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Univentricular cardiopathy' Class: http://www.orpha.net/ORDO/Orphanet_306172 Label: tubulin, beta 4A class IVa - 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT4 type' - 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum' - 'tubulin, beta 4A class IVa' SubClassOf 'gene' + 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT4 type' + 'tubulin, beta 4A class IVa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum' + 'tubulin, beta 4A class IVa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, beta 4A class IVa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1465 Label: Coffin-Siris syndrome - 'Coffin-Siris syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Coffin-Siris syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Coffin-Siris syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Coffin-Siris syndrome' SubClassOf 'malformation syndrome' + 'Coffin-Siris syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coffin-Siris syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coffin-Siris syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Coffin-Siris syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1466 Label: COFS syndrome - 'COFS syndrome' SubClassOf 'part_of' some 'Cockayne syndrome' - 'COFS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COFS syndrome' SubClassOf 'clinical subtype' - 'COFS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COFS syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'COFS syndrome' SubClassOf 'clinical subtype' + 'COFS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COFS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cockayne syndrome' + 'COFS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_1467 Label: Cogan syndrome - 'Cogan syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cogan syndrome' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Cogan syndrome' SubClassOf 'disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory eye disease' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Cogan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Cogan syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cogan syndrome' SubClassOf 'disease' + 'Cogan syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_121038 Label: doublecortin - 'doublecortin' SubClassOf 'gene' - 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Subcortical band heterotopia' - 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly type 1 due to doublecortin gene mutation' + 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Subcortical band heterotopia' + 'doublecortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22.3-q23"^^http://www.w3.org/2001/XMLSchema#string + 'doublecortin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly type 1 due to doublecortin gene mutation' + 'doublecortin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121034 Label: decorin - 'decorin' SubClassOf 'gene' - 'decorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stromal corneal dystrophy' + 'decorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.33"^^http://www.w3.org/2001/XMLSchema#string + 'decorin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'decorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_254449 Label: Atrophic lichen planus - 'Atrophic lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atrophic lichen planus' SubClassOf 'disease' - 'Atrophic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Atrophic lichen planus' SubClassOf 'disease' + 'Atrophic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Atrophic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404546 Label: DITRA - 'DITRA' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'DITRA' SubClassOf 'disease' - 'DITRA' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'DITRA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'DITRA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DITRA' SubClassOf 'disease' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'DITRA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165661 Label: Genetic pancreatic disease - 'Genetic pancreatic disease' SubClassOf 'group of disorders' + 'Genetic pancreatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1460 Label: Isolated CoQ-cytochrome C reductase deficiency - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1461 Label: Criss-cross heart - 'Criss-cross heart' SubClassOf 'has_prevalence' some 'Unknown' - 'Criss-cross heart' SubClassOf 'part_of' some 'Congenital heart malformation' - 'Criss-cross heart' SubClassOf 'morphological anomaly' - 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Criss-cross heart' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Criss-cross heart' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Criss-cross heart' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital heart malformation' + 'Criss-cross heart' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Criss-cross heart' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123175 Label: mucolipin 1 - 'mucolipin 1' SubClassOf 'gene' - 'mucolipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 4' + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucolipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 4' Class: http://www.orpha.net/ORDO/Orphanet_240691 Label: Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Situs inversus totalis' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, sinus venosus type' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'gene' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Situs inversus totalis' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, sinus venosus type' Class: http://www.orpha.net/ORDO/Orphanet_1463 Label: Triatrial heart - 'Triatrial heart' SubClassOf 'group of disorders' + 'Triatrial heart' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165658 Label: Genetic gastro-esophageal disease - 'Genetic gastro-esophageal disease' SubClassOf 'group of disorders' + 'Genetic gastro-esophageal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123170 Label: multiple coagulation factor deficiency 2 - 'multiple coagulation factor deficiency 2' SubClassOf 'gene' - 'multiple coagulation factor deficiency 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'multiple coagulation factor deficiency 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'multiple coagulation factor deficiency 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple coagulation factor deficiency 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' Class: http://www.orpha.net/ORDO/Orphanet_404538 Label: X-linked distal hereditary motor neuropathy - 'X-linked distal hereditary motor neuropathy' SubClassOf 'group of disorders' + 'X-linked distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1478 Label: Interauricular communication - 'Interauricular communication' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Interauricular communication' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Interauricular communication' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Interauricular communication' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Interauricular communication' SubClassOf 'morphological anomaly' + 'Interauricular communication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Interauricular communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Interauricular communication' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Interauricular communication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Interauricular communication' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1475 Label: Renal coloboma syndrome - 'Renal coloboma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal coloboma syndrome' SubClassOf 'malformation syndrome' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Renal coloboma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Renal coloboma syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Renal coloboma syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Renal coloboma syndrome' SubClassOf 'malformation syndrome' + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal coloboma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Renal coloboma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_121045 Label: damage-specific DNA binding protein 2, 48kDa - 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group E' - 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'gene' + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum complementation group E' + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p12-p11"^^http://www.w3.org/2001/XMLSchema#string + 'damage-specific DNA binding protein 2, 48kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1479 Label: Atrial septal defect - atrioventricular conduction defects - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'malformation syndrome' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'malformation syndrome' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atrial septal defect - atrioventricular conduction defects' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121047 Label: dopa decarboxylase (aromatic L-amino acid decarboxylase) - 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatic L-amino acid decarboxylase deficiency' - 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'gene' + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatic L-amino acid decarboxylase deficiency' + 'dopa decarboxylase (aromatic L-amino acid decarboxylase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123183 Label: microcephalin 1 - 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature chromosome condensation with microcephaly and intellectual disability' - 'microcephalin 1' SubClassOf 'gene' - 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microcephalin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Premature chromosome condensation with microcephaly and intellectual disability' + 'microcephalin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_165655 Label: Genetic intestinal disease - 'Genetic intestinal disease' SubClassOf 'group of disorders' + 'Genetic intestinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165652 Label: Rare genetic gastroenterological disease - 'Rare genetic gastroenterological disease' SubClassOf 'group of disorders' + 'Rare genetic gastroenterological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1473 Label: Uveal coloboma - cleft lip and palate - intellectual disability - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'malformation syndrome' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'malformation syndrome' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97685 Label: 17q11 microdeletion syndrome - '17q11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q11 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '17q11 microdeletion syndrome' SubClassOf 'clinical subtype' - '17q11 microdeletion syndrome' SubClassOf 'part_of' some 'Neurofibromatosis type 1' + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurofibromatosis type 1' + '17q11 microdeletion syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1471 Label: Coloboma of macula - brachydactyly type B - 'Coloboma of macula - brachydactyly type B' SubClassOf 'malformation syndrome' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coloboma of macula - brachydactyly type B' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula - brachydactyly type B' SubClassOf 'malformation syndrome' + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coloboma of macula - brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Coloboma of macula - brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula - brachydactyly type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_123186 Label: methyl CpG binding protein 2 - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' - 'methyl CpG binding protein 2' SubClassOf 'gene' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rett syndrome' - 'methyl CpG binding protein 2' SubClassOf 'Role in the phenotype of' some 'Trisomy Xq28' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - psychosis - macroorchidism' - 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal-onset encephalopathy with microcephaly' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rett syndrome' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability - psychosis - macroorchidism' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'methyl CpG binding protein 2' SubClassOf 'Role in the phenotype of' some 'Trisomy Xq28' + 'methyl CpG binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal-onset encephalopathy with microcephaly' + 'methyl CpG binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'methyl CpG binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97678 Label: Maternal uniparental disomy of chromosome 13 - 'Maternal uniparental disomy of chromosome 13' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Maternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' + 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Maternal uniparental disomy of chromosome 13' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306169 Label: dystonia 15, myoclonic - 'dystonia 15, myoclonic' SubClassOf 'gene' - 'dystonia 15, myoclonic' SubClassOf 'Role in the phenotype of' some 'Myoclonus-dystonia syndrome' + 'dystonia 15, myoclonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'dystonia 15, myoclonic' SubClassOf 'Role in the phenotype of' some 'Myoclonus-dystonia syndrome' + 'dystonia 15, myoclonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182090 Label: Pulmonary arterial hypertension - 'Pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'group of disorders' + 'Pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.24"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.24"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_228012 Label: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'disease' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1439 Label: Ring chromosome 12 - 'Ring chromosome 12' SubClassOf 'malformation syndrome' - 'Ring chromosome 12' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 12' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 12' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183542 Label: Genetic cranial malformation - 'Genetic cranial malformation' SubClassOf 'group of disorders' + 'Genetic cranial malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217253 Label: Limbic encephalitis with NMDA receptor antibodies - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'disease' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_inheritance' some 'sporadic' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'part_of' some 'Paraneoplastic limbic encephalitis' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_prevalence' some 'Unknown' - 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'disease' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic limbic encephalitis' + 'Limbic encephalitis with NMDA receptor antibodies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_182098 Label: Pneumoconiosis - 'Pneumoconiosis' SubClassOf 'group of disorders' + 'Pneumoconiosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182095 Label: Interstitial lung disease - 'Interstitial lung disease' SubClassOf 'group of disorders' + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Interstitial lung disease' SubClassOf 'group of disorders' + 'Interstitial lung disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1441 Label: Ring chromosome 17 - 'Ring chromosome 17' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 17' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 17' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 17' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 17' SubClassOf 'malformation syndrome' + 'Ring chromosome 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 17' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 17' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 17' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 17' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 17' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2052 Label: Fraser syndrome - 'Fraser syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Fraser syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Fraser syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fraser syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fraser syndrome' SubClassOf 'malformation syndrome' - 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Fraser syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Fraser syndrome' SubClassOf 'part_of' some 'Cryptophthalmia' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Fraser syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf 'malformation syndrome' + 'Fraser syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryptophthalmia' + 'Fraser syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Fraser syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1440 Label: Ring chromosome 14 - 'Ring chromosome 14' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 14' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 14' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 14' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' - 'Ring chromosome 14' SubClassOf 'malformation syndrome' - 'Ring chromosome 14' SubClassOf 'has_inheritance' some 'sporadic' + 'Ring chromosome 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 14' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 14' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 14' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 14' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183539 Label: Genetic renal or urinary tract malformation - 'Genetic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Genetic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2053 Label: Freeman-Sheldon syndrome - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Freeman-Sheldon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Freeman-Sheldon syndrome' SubClassOf 'malformation syndrome' - 'Freeman-Sheldon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Freeman-Sheldon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Freeman-Sheldon syndrome' SubClassOf 'malformation syndrome' + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Freeman-Sheldon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Freeman-Sheldon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Freeman-Sheldon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_2050 Label: Cole-Carpenter syndrome - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Cole-Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cole-Carpenter syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cole-Carpenter syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cole-Carpenter syndrome' SubClassOf 'malformation syndrome' - 'Cole-Carpenter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cole-Carpenter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cole-Carpenter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Cole-Carpenter syndrome' SubClassOf 'malformation syndrome' + 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cole-Carpenter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_159443 Label: topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase - 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_139042 Label: Malformation syndrome with odontal and/or periodontal component - 'Malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' + 'Malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183536 Label: Genetic congenital limb malformation - 'Genetic congenital limb malformation' SubClassOf 'obsolete_class' - 'Genetic congenital limb malformation' SubClassOf 'group of disorders' + 'Genetic congenital limb malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2056 Label: Essential fructosuria - 'Essential fructosuria' SubClassOf 'part_of' some 'Disorder of fructose metabolism' - 'Essential fructosuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Essential fructosuria' SubClassOf 'disease' - 'Essential fructosuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Essential fructosuria' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Essential fructosuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fructose metabolism' + 'Essential fructosuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Essential fructosuria' SubClassOf 'disease' + 'Essential fructosuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2057 Label: Blepharophimosis - ptosis - esotropia - syndactyly - short stature - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'malformation syndrome' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'part_of' some 'Ptosis' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'malformation syndrome' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2054 Label: Osteochondritis of tarsal/metatarsal bone - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'disease' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_inheritance' some 'sporadic' - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some 'Osteochondrosis' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'disease' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_183533 Label: Genetic multiple congenital anomalies/dysmorphic syndrome - 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' + 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1449 Label: Ring chromosome 7 - 'Ring chromosome 7' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 7' SubClassOf 'malformation syndrome' + 'Ring chromosome 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 7' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397787 Label: Severe combined immunodeficiency due to IKK2 deficiency - 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' - 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T+ B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1448 Label: Ring chromosome 6 - 'Ring chromosome 6' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 6' SubClassOf 'malformation syndrome' + 'Ring chromosome 6' SubClassOf 'malformation syndrome' + 'Ring chromosome 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_159449 Label: RNA binding motif protein 28 - 'RNA binding motif protein 28' SubClassOf 'Disease-causing germline mutation(s) in' some 'ANE syndrome' - 'RNA binding motif protein 28' SubClassOf 'gene' + 'RNA binding motif protein 28' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 28' SubClassOf 'Disease-causing germline mutation(s) in' some 'ANE syndrome' + 'RNA binding motif protein 28' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1447 Label: Ring chromosome 4 - 'Ring chromosome 4' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 4' SubClassOf 'malformation syndrome' + 'Ring chromosome 4' SubClassOf 'malformation syndrome' + 'Ring chromosome 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_122102 Label: gap junction protein, alpha 1, 43kDa - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 3' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniometaphyseal dysplasia' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculodentodigital dysplasia' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'gene' - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 3' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniometaphyseal dysplasia' + 'gap junction protein, alpha 1, 43kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculodentodigital dysplasia' + 'gap junction protein, alpha 1, 43kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1446 Label: Ring chromosome 22 - 'Ring chromosome 22' SubClassOf 'malformation syndrome' - 'Ring chromosome 22' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 22' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 22' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2059 Label: Fryns syndrome - 'Fryns syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fryns syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fryns syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fryns syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Fryns syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Fryns syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Fryns syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fryns syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Fryns syndrome' SubClassOf 'malformation syndrome' + 'Fryns syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fryns syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fryns syndrome' SubClassOf 'malformation syndrome' + 'Fryns syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1445 Label: Ring chromosome 21 - 'Ring chromosome 21' SubClassOf 'malformation syndrome' - 'Ring chromosome 21' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 21' SubClassOf 'malformation syndrome' + 'Ring chromosome 21' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_1444 Label: Ring chromosome 20 - 'Ring chromosome 20' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ring chromosome 20' SubClassOf 'malformation syndrome' - 'Ring chromosome 20' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 20' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 20' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 20' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ring chromosome 20' SubClassOf 'malformation syndrome' + 'Ring chromosome 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 20' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Ring chromosome 20' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1443 Label: Ring chromosome 19 - 'Ring chromosome 19' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 19' SubClassOf 'malformation syndrome' + 'Ring chromosome 19' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 19' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1442 Label: Ring chromosome 18 - 'Ring chromosome 18' SubClassOf 'malformation syndrome' - 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring chromosome 18' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 18' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 18' SubClassOf 'malformation syndrome' + 'Ring chromosome 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring chromosome 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Ring chromosome 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_182083 Label: Channelopathy with epilepsy - 'Channelopathy with epilepsy' SubClassOf 'group of disorders' + 'Channelopathy with epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280099 Label: tubulin, beta 1 class VI - 'tubulin, beta 1 class VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' - 'tubulin, beta 1 class VI' SubClassOf 'gene' + 'tubulin, beta 1 class VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, beta 1 class VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant macrothrombocytopenia' + 'tubulin, beta 1 class VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139033 Label: Progeroid syndrome - 'Progeroid syndrome' SubClassOf 'group of disorders' + 'Progeroid syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183530 Label: Rare genetic developmental defect during embryogenesis - 'Rare genetic developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare genetic developmental defect during embryogenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370997 Label: Muscle-eye-brain disease with bilateral multicystic leucodystrophy - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'part_of' some 'Primary qualitative or quantitative defects of alpha-dystroglycan' - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'disease' - 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'part_of' some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'disease' + 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary qualitative or quantitative defects of alpha-dystroglycan' Class: http://www.orpha.net/ORDO/Orphanet_139036 Label: Branchial arch or oral-acral syndrome - 'Branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' + 'Branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280090 Label: ALG11, alpha-1,2-mannosyltransferase - 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG11-CDG' - 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'gene' + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALG11-CDG' + 'ALG11, alpha-1,2-mannosyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_182086 Label: Acquired peripheral neuropathy - 'Acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139039 Label: Orofacial clefting syndrome - 'Orofacial clefting syndrome' SubClassOf 'group of disorders' + 'Orofacial clefting syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1450 Label: Ring chromosome 8 - 'Ring chromosome 8' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 8' SubClassOf 'malformation syndrome' + 'Ring chromosome 8' SubClassOf 'malformation syndrome' + 'Ring chromosome 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' Class: http://www.orpha.net/ORDO/Orphanet_183527 Label: Genetic bone tumor - 'Genetic bone tumor' SubClassOf 'group of disorders' + 'Genetic bone tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2062 Label: Progressive non-infectious anterior vertebral fusion - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'malformation syndrome' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'malformation syndrome' + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1452 Label: Cleidocranial dysplasia - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Cleidocranial dysplasia' SubClassOf 'malformation syndrome' - 'Cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Cleidocranial dysplasia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cleidocranial dysplasia' SubClassOf 'malformation syndrome' + 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2063 Label: Splenogonadal fusion - limb defects - micrognathia - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'malformation syndrome' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'malformation syndrome' + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1451 Label: CINCA syndrome - 'CINCA syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CINCA syndrome' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'CINCA syndrome' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' - 'CINCA syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CINCA syndrome' SubClassOf 'disease' - 'CINCA syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryopyrin-associated periodic syndrome' + 'CINCA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CINCA syndrome' SubClassOf 'disease' + 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2064 Label: Posterior fusion of lumbosacral vertebrae - blepharoptosis - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'malformation syndrome' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'malformation syndrome' + 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159434 Label: cyclic nucleotide gated channel beta 1 - 'cyclic nucleotide gated channel beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'cyclic nucleotide gated channel beta 1' SubClassOf 'gene' + 'cyclic nucleotide gated channel beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclic nucleotide gated channel beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cyclic nucleotide gated channel beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2065 Label: Galloway-Mowat syndrome - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Galloway-Mowat syndrome' SubClassOf 'malformation syndrome' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Galloway-Mowat syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Galloway-Mowat syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Galloway-Mowat syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Galloway-Mowat syndrome' SubClassOf 'malformation syndrome' + 'Galloway-Mowat syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Galloway-Mowat syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Galloway-Mowat syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139030 Label: Malformation syndrome with connective tissue involvement - 'Malformation syndrome with connective tissue involvement' SubClassOf 'group of disorders' + 'Malformation syndrome with connective tissue involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2066 Label: Gamma-aminobutyric acid transaminase deficiency - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Disorder of gamma-aminobutyric acid metabolism' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'part_of' some 'Disorder of beta and omega amino acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of beta and omega amino acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of gamma-aminobutyric acid metabolism' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2067 Label: GAPO syndrome - 'GAPO syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'GAPO syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'GAPO syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'GAPO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GAPO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GAPO syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'GAPO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GAPO syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'GAPO syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'GAPO syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'GAPO syndrome' SubClassOf 'malformation syndrome' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'GAPO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'GAPO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'GAPO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GAPO syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254492 Label: Frontal fibrosing alopecia - 'Frontal fibrosing alopecia' SubClassOf 'disease' - 'Frontal fibrosing alopecia' SubClassOf 'has_prevalence' some 'Unknown' - 'Frontal fibrosing alopecia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Alopecia' - 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Frontal fibrosing alopecia' SubClassOf 'disease' + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Frontal fibrosing alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Frontal fibrosing alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_122110 Label: gap junction protein, gamma 2, 47kDa - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'gene' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 44' - 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 44' + 'gap junction protein, gamma 2, 47kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' + 'gap junction protein, gamma 2, 47kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41-q42"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, gamma 2, 47kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183524 Label: Rare genetic bone disease - 'Rare genetic bone disease' SubClassOf 'group of disorders' + 'Rare genetic bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1458 Label: CODAS syndrome - 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CODAS syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'CODAS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CODAS syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'CODAS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CODAS syndrome' SubClassOf 'malformation syndrome' + 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CODAS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CODAS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'CODAS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CODAS syndrome' SubClassOf 'malformation syndrome' + 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2069 Label: Gastrocutaneous syndrome - 'Gastrocutaneous syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Gastrocutaneous syndrome' SubClassOf 'disease' - 'Gastrocutaneous syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Gastrocutaneous syndrome' SubClassOf 'disease' + 'Gastrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_35737 Label: Morning glory syndrome - 'Morning glory syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Morning glory syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Morning glory syndrome' SubClassOf 'part_of' some 'Optic neuropathy' - 'Morning glory syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Morning glory syndrome' SubClassOf 'morphological anomaly' + 'Morning glory syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Morning glory syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' + 'Morning glory syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1457 Label: Aorta coarctation - 'Aorta coarctation' SubClassOf 'part_of' some 'Aortic malformation' - 'Aorta coarctation' SubClassOf 'has_prevalence' some 'Unknown' - 'Aorta coarctation' SubClassOf 'morphological anomaly' - 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "27.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "40.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aorta coarctation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aorta coarctation' SubClassOf 'morphological anomaly' + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "59.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "78.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Aorta coarctation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1459 Label: Celiac disease, epilepsy and cerebral calcification syndrome - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'malformation syndrome' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'disease' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Celiac disease, epilepsy and cerebral calcification syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122114 Label: gap junction protein, alpha 3, 46kDa - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'gene' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 3, 46kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.11"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'gap junction protein, alpha 3, 46kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_1454 Label: Joubert syndrome with hepatic defect - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with hepatic defect' SubClassOf 'disease' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Joubert syndrome with hepatic defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with hepatic defect' SubClassOf 'disease' + 'Joubert syndrome with hepatic defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with hepatic defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with hepatic defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1453 Label: Cleidorhizomelic syndrome - 'Cleidorhizomelic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cleidorhizomelic syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Cleidorhizomelic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cleidorhizomelic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cleidorhizomelic syndrome' SubClassOf 'malformation syndrome' + 'Cleidorhizomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Cleidorhizomelic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cleidorhizomelic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cleidorhizomelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cleidorhizomelic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1456 Label: Atypical coarctation of aorta - 'Atypical coarctation of aorta' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' - 'Atypical coarctation of aorta' SubClassOf 'clinical subtype' - 'Atypical coarctation of aorta' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical coarctation of aorta' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Atypical coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorta coarctation' + 'Atypical coarctation of aorta' SubClassOf 'clinical subtype' + 'Atypical coarctation of aorta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical coarctation of aorta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical coarctation of aorta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1455 Label: Autosomal dominant coarctation of aorta - 'Autosomal dominant coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autosomal dominant coarctation of aorta' SubClassOf 'clinical subtype' - 'Autosomal dominant coarctation of aorta' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autosomal dominant coarctation of aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorta coarctation' + 'Autosomal dominant coarctation of aorta' SubClassOf 'clinical subtype' + 'Autosomal dominant coarctation of aorta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122118 Label: gap junction protein, alpha 8, 50kDa - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'gene' - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'gap junction protein, alpha 8, 50kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, alpha 8, 50kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'gap junction protein, alpha 8, 50kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_284818 Label: Disorder of tyrosine metabolism - 'Disorder of tyrosine metabolism' SubClassOf 'group of disorders' + 'Disorder of tyrosine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_35710 Label: Glucose-galactose malabsorption - 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glucose-galactose malabsorption' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glucose-galactose malabsorption' SubClassOf 'disease' - 'Glucose-galactose malabsorption' SubClassOf 'part_of' some 'Congenital intestinal transport defect' - 'Glucose-galactose malabsorption' SubClassOf 'has_prevalence' some 'Unknown' - 'Glucose-galactose malabsorption' SubClassOf 'part_of' some 'Glucose transport disorder' + 'Glucose-galactose malabsorption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal transport defect' + 'Glucose-galactose malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Glucose-galactose malabsorption' SubClassOf 'disease' + 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glucose-galactose malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_182070 Label: Rare neurodegenerative disease - 'Rare neurodegenerative disease' SubClassOf 'group of disorders' + 'Rare neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182076 Label: Syndromic neurometabolic disease with X-linked intellectual disability - 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'group of disorders' + 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139027 Label: Malformation syndrome with skin/mucosae involvement - 'Malformation syndrome with skin/mucosae involvement' SubClassOf 'group of disorders' + 'Malformation syndrome with skin/mucosae involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182073 Label: Syndromic neurometabolic disease with non-X-linked intellectual disability - 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'group of disorders' + 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284811 Label: Syndromic oculocutaneous albinism - 'Syndromic oculocutaneous albinism' SubClassOf 'group of disorders' + 'Syndromic oculocutaneous albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182079 Label: ARX-related epileptic encephalopathy - 'ARX-related epileptic encephalopathy' SubClassOf 'group of disorders' + 'ARX-related epileptic encephalopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139024 Label: Overgrowth/obesity syndrome - 'Overgrowth/obesity syndrome' SubClassOf 'group of disorders' + 'Overgrowth/obesity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183521 Label: Rare genetic movement disorder - 'Rare genetic movement disorder' SubClassOf 'group of disorders' + 'Rare genetic movement disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284814 Label: Disorder of phenylalanine metabolism - 'Disorder of phenylalanine metabolism' SubClassOf 'group of disorders' + 'Disorder of phenylalanine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_42775 Label: PHACE syndrome - 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic neurovascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Vascular tumor' - 'PHACE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PHACE syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'PHACE syndrome' SubClassOf 'part_of' some 'Palpebral tumor with a vascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'PHACE syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'PHACE syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'PHACE syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'PHACE syndrome' SubClassOf 'malformation syndrome' - 'PHACE syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral tumor with a vascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'PHACE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PHACE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'PHACE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'PHACE syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159421 Label: desmoglein 4 - 'desmoglein 4' SubClassOf 'gene' - 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' - 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'desmoglein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monilethrix' + 'desmoglein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'desmoglein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' Class: http://www.orpha.net/ORDO/Orphanet_2034 Label: Filariasis - 'Filariasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Filariasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Filariasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Filariasis' SubClassOf 'group of disorders' + 'Filariasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Filariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Filariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Filariasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139021 Label: Malformation syndrome with short stature - 'Malformation syndrome with short stature' SubClassOf 'group of disorders' + 'Malformation syndrome with short stature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2035 Label: Lymphatic filariasis - 'Lymphatic filariasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphatic filariasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Lymphatic filariasis' SubClassOf 'part_of' some 'Filariasis' - 'Lymphatic filariasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphatic filariasis' SubClassOf 'disease' + 'Lymphatic filariasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Lymphatic filariasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphatic filariasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Lymphatic filariasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lymphatic filariasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183512 Label: Rare genetic epilepsy - 'Rare genetic epilepsy' SubClassOf 'group of disorders' + 'Rare genetic epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2032 Label: Idiopathic pulmonary fibrosis - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Idiopathic pulmonary fibrosis' SubClassOf 'disease' - 'Idiopathic pulmonary fibrosis' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Idiopathic pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.94"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "38.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf 'disease' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic pulmonary fibrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_183518 Label: Rare hereditary ataxia - 'Rare hereditary ataxia' SubClassOf 'group of disorders' + 'Rare hereditary ataxia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2030 Label: Fibrosarcoma - 'Fibrosarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fibrosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Fibrosarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Fibrosarcoma' SubClassOf 'part_of' some 'Bone sarcoma' - 'Fibrosarcoma' SubClassOf 'disease' + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bone sarcoma' + 'Fibrosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fibrosarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibrosarcoma' SubClassOf 'disease' + 'Fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_2031 Label: Hepatic fibrosis - renal cysts - intellectual disability - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'malformation syndrome' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'malformation syndrome' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_183515 Label: Rare genetic medullar disease - 'Rare genetic medullar disease' SubClassOf 'group of disorders' + 'Rare genetic medullar disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1423 Label: Lethal recessive chondrodysplasia - 'Lethal recessive chondrodysplasia' SubClassOf 'malformation syndrome' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal recessive chondrodysplasia' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal recessive chondrodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lethal recessive chondrodysplasia' SubClassOf 'malformation syndrome' + 'Lethal recessive chondrodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal recessive chondrodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal recessive chondrodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal recessive chondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1422 Label: Chondrodysplasia - disorder of sex development - 'Chondrodysplasia - disorder of sex development' SubClassOf 'malformation syndrome' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Chondrodysplasia - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' + 'Chondrodysplasia - disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chondrodysplasia - disorder of sex development' SubClassOf 'malformation syndrome' + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Chondrodysplasia - disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122129 Label: gap junction protein, beta 2, 26kDa - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Porokeratotic eccrine ostial and dermal duct nevus' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis-deafness syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'gene' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans' + 'gap junction protein, beta 2, 26kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Porokeratotic eccrine ostial and dermal duct nevus' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis-deafness syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Palmoplantar keratoderma-deafness syndrome' Class: http://www.orpha.net/ORDO/Orphanet_405637 Label: unc-45 homolog B (C. elegans) - 'unc-45 homolog B (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'unc-45 homolog B (C. elegans)' SubClassOf 'gene' + 'unc-45 homolog B (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'unc-45 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'unc-45 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1421 Label: Lethal chondrodysplasia, Seller type - 'Lethal chondrodysplasia, Seller type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal chondrodysplasia, Seller type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Seller type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' + 'Lethal chondrodysplasia, Seller type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35708 Label: Aromatic L-amino acid decarboxylase deficiency - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'part_of' some 'Disorder of catecholamine synthesis' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of catecholamine synthesis' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1420 Label: Lethal chondrodysplasia, Moerman type - 'Lethal chondrodysplasia, Moerman type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal chondrodysplasia, Moerman type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Moerman type' SubClassOf 'malformation syndrome' + 'Lethal chondrodysplasia, Moerman type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1427 Label: Otospondylomegaepiphyseal dysplasia - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'disease' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'disease' + 'Otospondylomegaepiphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Otospondylomegaepiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2038 Label: Pulmonary arteriovenous fistula - 'Pulmonary arteriovenous fistula' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary arteriovenous fistula' SubClassOf 'morphological anomaly' - 'Pulmonary arteriovenous fistula' SubClassOf 'part_of' some 'Arteriovenous fistula' - 'Pulmonary arteriovenous fistula' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pulmonary arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Pulmonary arteriovenous fistula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pulmonary arteriovenous fistula' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary arteriovenous fistula' SubClassOf 'morphological anomaly' + 'Pulmonary arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous fistula' + 'Pulmonary arteriovenous fistula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_35706 Label: Glutaric acidemia type 3 - 'Glutaric acidemia type 3' SubClassOf 'part_of' some 'Energy metabolism disorder with epilepsy' - 'Glutaric acidemia type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Glutaric acidemia type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glutaric acidemia type 3' SubClassOf 'disease' - 'Glutaric acidemia type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glutaric acidemia type 3' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Energy metabolism disorder with epilepsy' + 'Glutaric acidemia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutaric acidemia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Glutaric acidemia type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1426 Label: Greenberg dysplasia - 'Greenberg dysplasia' SubClassOf 'disease' - 'Greenberg dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Greenberg dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Greenberg dysplasia' SubClassOf 'part_of' some 'Chondrodysplasia punctata' - 'Greenberg dysplasia' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'Greenberg dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Greenberg dysplasia' SubClassOf 'disease' + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Greenberg dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Greenberg dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'Greenberg dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2039 Label: Systemic arteriovenous fistula - 'Systemic arteriovenous fistula' SubClassOf 'part_of' some 'Arteriovenous fistula' - 'Systemic arteriovenous fistula' SubClassOf 'morphological anomaly' + 'Systemic arteriovenous fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous fistula' + 'Systemic arteriovenous fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_35705 Label: Neurometabolic disorder due to serine deficiency - 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of disorders' + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of disorders' + 'Neurometabolic disorder due to serine deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1425 Label: Desbuquois syndrome - 'Desbuquois syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Desbuquois syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Desbuquois syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Desbuquois syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Desbuquois syndrome' SubClassOf 'disease' - 'Desbuquois syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Desbuquois syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Desbuquois syndrome' SubClassOf 'disease' + 'Desbuquois syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Desbuquois syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Desbuquois syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122124 Label: gap junction protein, beta 1, 32kDa - 'gap junction protein, beta 1, 32kDa' SubClassOf 'gene' - 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked progressive cerebellar ataxia' - 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 1' + 'gap junction protein, beta 1, 32kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked progressive cerebellar ataxia' + 'gap junction protein, beta 1, 32kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 1' + 'gap junction protein, beta 1, 32kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2036 Label: Scalp-ear-nipple syndrome - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Scalp-ear-nipple syndrome' SubClassOf 'malformation syndrome' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Scalp-ear-nipple syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Scalp-ear-nipple syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' + 'Scalp-ear-nipple syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scalp-ear-nipple syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scalp-ear-nipple syndrome' SubClassOf 'malformation syndrome' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_35704 Label: Arginine:glycine amidinotransferase deficiency - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'part_of' some 'Disorder of creatine biosynthesis' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of creatine biosynthesis' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arginine:glycine amidinotransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_159426 Label: arginyl-tRNA synthetase 2, mitochondrial - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 6' - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.1"^^http://www.w3.org/2001/XMLSchema#string + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 6' + 'arginyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_2037 Label: Aorta-pulmonary artery fistula - 'Aorta-pulmonary artery fistula' SubClassOf 'morphological anomaly' - 'Aorta-pulmonary artery fistula' SubClassOf 'part_of' some 'Conotruncal heart malformations' + 'Aorta-pulmonary artery fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Aorta-pulmonary artery fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1428 Label: Familial chondromalacia patellae - 'Familial chondromalacia patellae' SubClassOf 'disease' - 'Familial chondromalacia patellae' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial chondromalacia patellae' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Familial chondromalacia patellae' SubClassOf 'part_of' some 'Patellar dysostosis' + 'Familial chondromalacia patellae' SubClassOf 'disease' + 'Familial chondromalacia patellae' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial chondromalacia patellae' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial chondromalacia patellae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Familial chondromalacia patellae' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409938 Class: http://www.orpha.net/ORDO/Orphanet_1429 Label: Benign familial chorea - 'Benign familial chorea' SubClassOf 'disease' - 'Benign familial chorea' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Benign familial chorea' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' + 'Benign familial chorea' SubClassOf 'disease' + 'Benign familial chorea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Benign familial chorea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_228003 Label: Severe combined immunodeficiency due to CORO1A deficiency - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'disease' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363400 Label: Severe neurodegenerative syndrome with lipodystrophy - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'disease' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_182061 Label: Cerebellar malformation - 'Cerebellar malformation' SubClassOf 'group of disorders' + 'Cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182064 Label: Rare neuroinflammatory or neuroimmunological disease - 'Rare neuroinflammatory or neuroimmunological disease' SubClassOf 'group of disorders' + 'Rare neuroinflammatory or neuroimmunological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280071 Label: ALG11-CDG - 'ALG11-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'ALG11-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ALG11-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ALG11-CDG' SubClassOf 'disease' - 'ALG11-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'ALG11-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'ALG11-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'ALG11-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'ALG11-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'ALG11-CDG' SubClassOf 'disease' + 'ALG11-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_139012 Label: Rare bone development disorder - 'Rare bone development disorder' SubClassOf 'group of disorders' + 'Rare bone development disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284804 Label: Ocular albinism - 'Ocular albinism' SubClassOf 'group of disorders' + 'Ocular albinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182067 Label: Glial tumor - 'Glial tumor' SubClassOf 'group of disorders' + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Glial tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370980 Label: Congenital muscular dystrophy without intellectual disability - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'disease' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'disease' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_183500 Label: Genetic neurodegenerative disease - 'Genetic neurodegenerative disease' SubClassOf 'group of disorders' + 'Genetic neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121000 Label: cytochrome P450, family 2, subfamily R, polypeptide 1 - 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 2, subfamily R, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2044 Label: Floating-Harbor syndrome - 'Floating-Harbor syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Floating-Harbor syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Floating-Harbor syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Floating-Harbor syndrome' SubClassOf 'malformation syndrome' - 'Floating-Harbor syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Floating-Harbor syndrome' SubClassOf 'malformation syndrome' + 'Floating-Harbor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Floating-Harbor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183503 Label: Genetic central nervous system and retinal vascular disease - 'Genetic central nervous system and retinal vascular disease' SubClassOf 'group of disorders' + 'Genetic central nervous system and retinal vascular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2045 Label: FLOTCH syndrome - 'FLOTCH syndrome' SubClassOf 'disease' - 'FLOTCH syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' + 'FLOTCH syndrome' SubClassOf 'disease' + 'FLOTCH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2040 Label: Congenital bronchobiliary fistula - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Congenital bronchobiliary fistula' SubClassOf 'morphological anomaly' - 'Congenital bronchobiliary fistula' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital bronchobiliary fistula' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital bronchobiliary fistula' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Congenital bronchobiliary fistula' SubClassOf 'part_of' some 'Respiratory malformation' + 'Congenital bronchobiliary fistula' SubClassOf 'morphological anomaly' + 'Congenital bronchobiliary fistula' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital bronchobiliary fistula' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Congenital bronchobiliary fistula' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital bronchobiliary fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2041 Label: Coronary arterial fistulas - 'Coronary arterial fistulas' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Coronary arterial fistulas' SubClassOf 'part_of' some 'Coronary artery congenital malformation' - 'Coronary arterial fistulas' SubClassOf 'has_prevalence' some 'Unknown' - 'Coronary arterial fistulas' SubClassOf 'morphological anomaly' - 'Coronary arterial fistulas' SubClassOf 'has_inheritance' some 'sporadic' + 'Coronary arterial fistulas' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Coronary arterial fistulas' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coronary artery congenital malformation' + 'Coronary arterial fistulas' SubClassOf 'morphological anomaly' + 'Coronary arterial fistulas' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_183506 Label: Genetic central nervous system malformation - 'Genetic central nervous system malformation' SubClassOf 'group of disorders' + 'Genetic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2042 Label: Tracheo-esophageal fistula - hypospadias - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Respiratory malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Larynx anomaly' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'malformation syndrome' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'part_of' some 'Tracheal anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'malformation syndrome' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_121007 Label: D-2-hydroxyglutarate dehydrogenase - 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' - 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'gene' + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'D-2-hydroxyglutaric aciduria' + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string + 'D-2-hydroxyglutarate dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122139 Label: gap junction protein, beta 4, 30.3kDa - 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'gene' - 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 4, 30.3kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35-p34"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 4, 30.3kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 4, 30.3kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183509 Label: Rare genetic headache - 'Rare genetic headache' SubClassOf 'group of disorders' + 'Rare genetic headache' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1431 Label: Paroxysmal dyskinesia - 'Paroxysmal dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' - 'Paroxysmal dyskinesia' SubClassOf 'group of disorders' + 'Paroxysmal dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal dyskinesia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1434 Label: Choroideremia - hypopituitarism - 'Choroideremia - hypopituitarism' SubClassOf 'disease' - 'Choroideremia - hypopituitarism' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Choroideremia - hypopituitarism' SubClassOf 'disease' + 'Choroideremia - hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_121005 Label: cytochrome P450, family 7, subfamily B, polypeptide 1 - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 5A' - 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 3' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 5A' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 3' + 'cytochrome P450, family 7, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254478 Label: Lichen planus pemphigoides - 'Lichen planus pemphigoides' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Lichen planus pemphigoides' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lichen planus pemphigoides' SubClassOf 'disease' - 'Lichen planus pemphigoides' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lichen planus pemphigoides' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lichen planus pemphigoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lichen planus pemphigoides' SubClassOf 'disease' + 'Lichen planus pemphigoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1433 Label: Choroidal atrophy - alopecia - 'Choroidal atrophy - alopecia' SubClassOf 'malformation syndrome' - 'Choroidal atrophy - alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choroidal atrophy - alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Choroidal atrophy - alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Choroidal atrophy - alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Choroidal atrophy - alopecia' SubClassOf 'malformation syndrome' + 'Choroidal atrophy - alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Choroidal atrophy - alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choroidal atrophy - alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1436 Label: Skeletal dysplasia - intellectual disability - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Skeletal dysplasia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Skeletal dysplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_122135 Label: gap junction protein, beta 3, 31kDa - 'gap junction protein, beta 3, 31kDa' SubClassOf 'gene' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuropathy with hearing impairment' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transgrediens et progrediens palmoplantar keratoderma' - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 3, 31kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrokeratodermia variabilis' + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuropathy with hearing impairment' + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 3, 31kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2047 Label: Flynn-Aird syndrome - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Flynn-Aird syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Flynn-Aird syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Flynn-Aird syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Flynn-Aird syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Flynn-Aird syndrome' SubClassOf 'disease' + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Flynn-Aird syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Flynn-Aird syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Flynn-Aird syndrome' SubClassOf 'disease' + 'Flynn-Aird syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1435 Label: Choroideremia - deafness - obesity - 'Choroideremia - deafness - obesity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Choroideremia - deafness - obesity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choroideremia - deafness - obesity' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Syndromic obesity' - 'Choroideremia - deafness - obesity' SubClassOf 'malformation syndrome' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Choroideremia - deafness - obesity' SubClassOf 'part_of' some 'Unclassified familial retinal dystrophy' + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Choroideremia - deafness - obesity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Choroideremia - deafness - obesity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified familial retinal dystrophy' + 'Choroideremia - deafness - obesity' SubClassOf 'malformation syndrome' + 'Choroideremia - deafness - obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Choroideremia - deafness - obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_228000 Label: Idiopathic CD4 lymphocytopenia - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_inheritance' some 'sporadic' + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease' + 'Idiopathic CD4 lymphocytopenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_159414 Label: lipoma HMGIC fusion partner-like 5 - 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'lipoma HMGIC fusion partner-like 5' SubClassOf 'gene' + 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'lipoma HMGIC fusion partner-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'lipoma HMGIC fusion partner-like 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1438 Label: Ring chromosome 10 - 'Ring chromosome 10' SubClassOf 'malformation syndrome' - 'Ring chromosome 10' SubClassOf 'part_of' some 'Ring chromosome' - 'Ring chromosome 10' SubClassOf 'has_inheritance' some 'sporadic' - 'Ring chromosome 10' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ring chromosome 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ring chromosome 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ring chromosome 10' SubClassOf 'malformation syndrome' + 'Ring chromosome 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ring chromosome 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_1437 Label: Ring chromosome 1 - 'Ring chromosome 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ring chromosome 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ring chromosome 1' SubClassOf 'malformation syndrome' - 'Ring chromosome 1' SubClassOf 'part_of' some 'Ring chromosome' + 'Ring chromosome 1' SubClassOf 'malformation syndrome' + 'Ring chromosome 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ring chromosome 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ring chromosome' + 'Ring chromosome 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_121002 Label: cytochrome P450, family 4, subfamily V, polypeptide 2 - 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bietti crystalline dystrophy' - 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bietti crystalline dystrophy' + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2092 Label: Focal dermal hypoplasia - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Focal dermal hypoplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Connective tissue disease with eye involvement' - 'Focal dermal hypoplasia' SubClassOf 'malformation syndrome' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Focal dermal hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Focal dermal hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal dermal hypoplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Focal dermal hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Connective tissue disease with eye involvement' + 'Focal dermal hypoplasia' SubClassOf 'malformation syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Focal dermal hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Focal dermal hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_2090 Label: GMS syndrome - 'GMS syndrome' SubClassOf 'part_of' some 'Goniodysgenesis' - 'GMS syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'GMS syndrome' SubClassOf 'malformation syndrome' - 'GMS syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'GMS syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf 'malformation syndrome' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Goniodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_2091 Label: Multinodular goiter - cystic kidney - polydactyly - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'malformation syndrome' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'malformation syndrome' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_139009 Label: Developmental anomaly of metabolic origin - 'Developmental anomaly of metabolic origin' SubClassOf 'group of disorders' + 'Developmental anomaly of metabolic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159403 Label: solute carrier family 39 (zinc transporter), member 13 - 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' - 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'gene' + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' + 'solute carrier family 39 (zinc transporter), member 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306110 Label: matrix metallopeptidase 1 (interstitial collagenase) - 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'Modifying germline mutation in' some 'Severe generalized recessive dystrophic epidermolysis bullosa' - 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'gene' + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf 'Modifying germline mutation in' some 'Severe generalized recessive dystrophic epidermolysis bullosa' + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 1 (interstitial collagenase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261190 Label: 15q14 microdeletion syndrome - '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '15q14 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' - '15q14 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q14 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '15q14 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q14 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '15q14 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '15q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '15q14 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122149 Label: glycerol kinase - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, adult form' - 'glycerol kinase' SubClassOf 'gene' - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, infantile form' - 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, juvenile form' + 'glycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, adult form' + 'glycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, infantile form' + 'glycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, juvenile form' Class: http://www.orpha.net/ORDO/Orphanet_2097 Label: Grant syndrome - 'Grant syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Grant syndrome' SubClassOf 'malformation syndrome' + 'Grant syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Grant syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2095 Label: Gorlin-Chaudhry-Moss syndrome - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'malformation syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122142 Label: gap junction protein, beta 6, 30kDa - 'gap junction protein, beta 6, 30kDa' SubClassOf 'gene' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hidrotic ectodermal dysplasia' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'gap junction protein, beta 6, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 6, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hidrotic ectodermal dysplasia' + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'KID syndrome' + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_2098 Label: Acromesomelic dysplasia, Grebe type - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'malformation syndrome' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_prevalence' some 'Unknown' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'malformation syndrome' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acromesomelic dysplasia, Grebe type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Grebe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_261197 Label: Proximal 16p11.2 microdeletion syndrome - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_306106 Label: coiled-coil domain containing 11 - 'coiled-coil domain containing 11' SubClassOf 'gene' - 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' - 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' + 'coiled-coil domain containing 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' + 'coiled-coil domain containing 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' Class: http://www.orpha.net/ORDO/Orphanet_1406 Label: Charlie M syndrome - 'Charlie M syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Charlie M syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Charlie M syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Charlie M syndrome' SubClassOf 'malformation syndrome' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Oromandibular-limb hypogenesis syndrome' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Charlie M syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Charlie M syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Charlie M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Charlie M syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Charlie M syndrome' SubClassOf 'malformation syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oromandibular-limb hypogenesis syndrome' + 'Charlie M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1409 Label: Woolly hair - hypotrichosis - everted lower lip - outstanding ears - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'malformation syndrome' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'malformation syndrome' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1408 Label: Hair defect - photosensitivity - intellectual disability - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'malformation syndrome' - 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306100 Label: KIAA1377 - 'KIAA1377' SubClassOf 'gene' - 'KIAA1377' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'KIAA1377' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA1377' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'KIAA1377' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122156 Label: galactosidase, beta 1 - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4B' - 'galactosidase, beta 1' SubClassOf 'gene' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 1' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 3' - 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 2' + 'galactosidase, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4B' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 1' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 2' + 'galactosidase, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM1 gangliosidosis type 3' + 'galactosidase, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1414 Label: Cholestasis-lymphedema syndrome - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Cholestasis-lymphedema syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cholestasis-lymphedema syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cholestasis-lymphedema syndrome' SubClassOf 'disease' + 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Cholestasis-lymphedema syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1415 Label: Cholestasis - pigmentary retinopathy - cleft palate - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_inheritance' some 'sporadic' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'malformation syndrome' - 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'malformation syndrome' + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cholestasis - pigmentary retinopathy - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261183 Label: 15q11.2 microdeletion syndrome - '15q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '15q11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '15q11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + '15q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '15q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + '15q11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1416 Label: Familial calcium pyrophosphate deposition - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial calcium pyrophosphate deposition' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Familial calcium pyrophosphate deposition' SubClassOf 'disease' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some 'sporadic' + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial calcium pyrophosphate deposition' SubClassOf 'disease' + 'Familial calcium pyrophosphate deposition' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Familial calcium pyrophosphate deposition' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1410 Label: Uncombable hair syndrome - 'Uncombable hair syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Uncombable hair syndrome' SubClassOf 'disease' - 'Uncombable hair syndrome' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' - 'Uncombable hair syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Uncombable hair syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Uncombable hair syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Uncombable hair syndrome' SubClassOf 'disease' + 'Uncombable hair syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Uncombable hair syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_1412 Label: Tarsal-carpal coalition syndrome - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tarsal-carpal coalition syndrome' SubClassOf 'malformation syndrome' - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tarsal-carpal coalition syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Tarsal-carpal coalition syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tarsal-carpal coalition syndrome' SubClassOf 'malformation syndrome' + 'Tarsal-carpal coalition syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tarsal-carpal coalition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' Class: http://www.orpha.net/ORDO/Orphanet_122153 Label: galactosidase, alpha - 'galactosidase, alpha' SubClassOf 'gene' - 'galactosidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fabry disease' + 'galactosidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.3-q22"^^http://www.w3.org/2001/XMLSchema#string + 'galactosidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fabry disease' Class: http://www.orpha.net/ORDO/Orphanet_2070 Label: Eosinophilic gastroenteritis - 'Eosinophilic gastroenteritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Eosinophilic gastroenteritis' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Eosinophilic gastroenteritis' SubClassOf 'disease' - 'Eosinophilic gastroenteritis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' - 'Eosinophilic gastroenteritis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Eosinophilic gastroenteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic gastroenteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eosinophilic gastroenteritis' SubClassOf 'disease' + 'Eosinophilic gastroenteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Eosinophilic gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_122167 Label: GLI family zinc finger 3 - 'GLI family zinc finger 3' SubClassOf 'gene' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greig cephalopolysyndactyly syndrome' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pallister-Hall syndrome' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral' - 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Greig cephalopolysyndactyly syndrome' + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLI family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13"^^http://www.w3.org/2001/XMLSchema#string + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pallister-Hall syndrome' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral' + 'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2078 Label: Geroderma osteodysplastica - 'Geroderma osteodysplastica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Geroderma osteodysplastica' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Geroderma osteodysplastica' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Geroderma osteodysplastica' SubClassOf 'part_of' some 'Cutis laxa' - 'Geroderma osteodysplastica' SubClassOf 'malformation syndrome' - 'Geroderma osteodysplastica' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Geroderma osteodysplastica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Geroderma osteodysplastica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Geroderma osteodysplastica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Geroderma osteodysplastica' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2077 Label: German syndrome - 'German syndrome' SubClassOf 'malformation syndrome' - 'German syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'German syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'German syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'German syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'German syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'German syndrome' SubClassOf 'malformation syndrome' + 'German syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'German syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2076 Label: X-linked intellectual disability - epilepsy - 'X-linked intellectual disability - epilepsy' SubClassOf 'group of disorders' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability - epilepsy' SubClassOf 'group of disorders' + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2075 Label: Genito-palato-cardiac syndrome - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Genito-palato-cardiac syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Genito-palato-cardiac syndrome' SubClassOf 'malformation syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Genito-palato-cardiac syndrome' SubClassOf 'malformation syndrome' + 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2073 Label: Narcolepsy-cataplexy - 'Narcolepsy-cataplexy' SubClassOf 'disease' - 'Narcolepsy-cataplexy' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Narcolepsy-cataplexy' SubClassOf 'part_of' some 'Sleep disorder' - 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "34.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf 'disease' + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Narcolepsy-cataplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "22.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Narcolepsy-cataplexy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "28.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "26.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Narcolepsy-cataplexy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122160 Label: glycine dehydrogenase (decarboxylating) - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'gene' - 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' + 'glycine dehydrogenase (decarboxylating)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine dehydrogenase (decarboxylating)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p22"^^http://www.w3.org/2001/XMLSchema#string + 'glycine dehydrogenase (decarboxylating)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_2072 Label: Gaucher disease - ophthalmoplegia - cardiovascular calcification - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'part_of' some 'Gaucher disease' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2081 Label: Cerebral gigantism - jaw cysts - 'Cerebral gigantism - jaw cysts' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Cerebral gigantism - jaw cysts' SubClassOf 'malformation syndrome' - 'Cerebral gigantism - jaw cysts' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cerebral gigantism - jaw cysts' SubClassOf 'malformation syndrome' + 'Cerebral gigantism - jaw cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Cerebral gigantism - jaw cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Cerebral gigantism - jaw cysts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217260 Label: Progressive multifocal leukoencephalopathy - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'disease' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive multifocal leukoencephalopathy' SubClassOf 'disease' + 'Progressive multifocal leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Progressive multifocal leukoencephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122179 Label: glycine receptor, alpha 1 - 'glycine receptor, alpha 1' SubClassOf 'gene' - 'glycine receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'glycine receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_2088 Label: Glycogen storage disease due to GLUT2 deficiency - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'part_of' some 'Glucose transport disorder' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glucose transport disorder' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2087 Label: Glomerulonephritis - sparse hair - telangiectasis - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'malformation syndrome' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'malformation syndrome' + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glomerulonephritis - sparse hair - telangiectasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_2089 Label: Glycogen storage disease due to hepatic glycogen synthase deficiency - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen synthase deficiency' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen synthase deficiency' + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2084 Label: Glaucoma - ectopia - microspherophakia - stiff joints - short stature - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'part_of' some 'Lens size anomaly' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'malformation syndrome' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217266 Label: BNAR syndrome - 'BNAR syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'BNAR syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'BNAR syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'BNAR syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'BNAR syndrome' SubClassOf 'part_of' some 'Rare otorhinolaryngological malformation' - 'BNAR syndrome' SubClassOf 'malformation syndrome' - 'BNAR syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'BNAR syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'BNAR syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngological malformation' + 'BNAR syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'BNAR syndrome' SubClassOf 'malformation syndrome' + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'BNAR syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2083 Label: Prominent glabella - microcephaly - hypogenitalism - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'malformation syndrome' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'malformation syndrome' + 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122172 Label: glomulin, FKBP associated protein - 'glomulin, FKBP associated protein' SubClassOf 'gene' - 'glomulin, FKBP associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glomuvenous malformation' + 'glomulin, FKBP associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'glomulin, FKBP associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glomulin, FKBP associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glomuvenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2086 Label: Optic pathway glioma - 'Optic pathway glioma' SubClassOf 'disease' - 'Optic pathway glioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Optic pathway glioma' SubClassOf 'part_of' some 'Tumor of cranial and spinal nerves' - 'Optic pathway glioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Optic pathway glioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Optic pathway glioma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' + 'Optic pathway glioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Optic pathway glioma' SubClassOf 'disease' + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' + 'Optic pathway glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of cranial and spinal nerves' + 'Optic pathway glioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Optic pathway glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2085 Label: Glaucoma - sleep apnea - 'Glaucoma - sleep apnea' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Glaucoma - sleep apnea' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Glaucoma - sleep apnea' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Glaucoma - sleep apnea' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glaucoma - sleep apnea' SubClassOf 'disease' + 'Glaucoma - sleep apnea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Glaucoma - sleep apnea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Glaucoma - sleep apnea' SubClassOf 'disease' + 'Glaucoma - sleep apnea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Glaucoma - sleep apnea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122078 Label: glial fibrillary acidic protein - 'glial fibrillary acidic protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alexander disease type II' - 'glial fibrillary acidic protein' SubClassOf 'gene' - 'glial fibrillary acidic protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alexander disease type I' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Alexander disease type I' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Alexander disease type II' + 'glial fibrillary acidic protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_261144 Label: 14q12 microdeletion syndrome - '14q12 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - '14q12 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '14q12 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '14q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + '14q12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_320176 Label: structural maintenance of chromosomes flexible hinge domain containing 1 - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy' - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'gene' - 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.32"^^http://www.w3.org/2001/XMLSchema#string + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy' + 'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2101 Label: Grubben-de Cock-Borghgraef syndrome - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'malformation syndrome' - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'malformation syndrome' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122076 Label: glial cell derived neurotrophic factor - 'glial cell derived neurotrophic factor' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'glial cell derived neurotrophic factor' SubClassOf 'gene' - 'glial cell derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'glial cell derived neurotrophic factor' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'glial cell derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glial cell derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159394 Label: tubulin, alpha 1a - 'tubulin, alpha 1a' SubClassOf 'gene' - 'tubulin, alpha 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to TUBA1A mutation' + 'tubulin, alpha 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly due to TUBA1A mutation' + 'tubulin, alpha 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'tubulin, alpha 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_250175 Label: magnesium transporter 1 - 'magnesium transporter 1' SubClassOf 'gene' - 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' - 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'magnesium transporter 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'magnesium transporter 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' + 'magnesium transporter 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2108 Label: Hallermann-Streiff syndrome - 'Hallermann-Streiff syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hallermann-Streiff syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Craniofacial anomaly with cataract' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Ectodermal malformation syndrome associated with ocular features' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Congenital absence of the eyebrow/eyelashes' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Hallermann-Streiff syndrome' SubClassOf 'malformation syndrome' - 'Hallermann-Streiff syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hallermann-Streiff syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal malformation syndrome associated with ocular features' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hallermann-Streiff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hallermann-Streiff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hallermann-Streiff syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hallermann-Streiff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniofacial anomaly with cataract' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Hallermann-Streiff syndrome' SubClassOf 'malformation syndrome' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of the eyebrow/eyelashes' + 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2107 Label: Hall-Riggs syndrome - 'Hall-Riggs syndrome' SubClassOf 'malformation syndrome' - 'Hall-Riggs syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hall-Riggs syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hall-Riggs syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hall-Riggs syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf 'malformation syndrome' + 'Hall-Riggs syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hall-Riggs syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2102 Label: GTP cyclohydrolase I deficiency - 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'GTP cyclohydrolase I deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'GTP cyclohydrolase I deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + 'GTP cyclohydrolase I deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'GTP cyclohydrolase I deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178396 Label: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some 'sporadic' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'disease' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'disease' + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_2103 Label: Guillain-Barr� syndrome - 'Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Guillain-Barr� syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Guillain-Barr� syndrome' SubClassOf 'group of disorders' - 'Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Guillain-Barr� syndrome' SubClassOf 'group of disorders' + 'Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Guillain-Barr� syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.45"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_236638 Label: Sp7 transcription factor - 'Sp7 transcription factor' SubClassOf 'gene' - 'Sp7 transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'Sp7 transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'Sp7 transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'Sp7 transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183490 Label: Genetic photodermatosis - 'Genetic photodermatosis' SubClassOf 'group of disorders' + 'Genetic photodermatosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304804 Label: nuclear receptor subfamily 1, group H, member 4 - 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' - 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'gene' + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy' + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 1, group H, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159390 Label: zinc finger, FYVE domain containing 26 - 'zinc finger, FYVE domain containing 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 15' - 'zinc finger, FYVE domain containing 26' SubClassOf 'gene' + 'zinc finger, FYVE domain containing 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger, FYVE domain containing 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 15' + 'zinc finger, FYVE domain containing 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183494 Label: Genetic immune deficiency with skin involvement - 'Genetic immune deficiency with skin involvement' SubClassOf 'group of disorders' + 'Genetic immune deficiency with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119157 Label: calcium channel, voltage-dependent, L type, alpha 1S subunit - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with transient compartment-like syndrome' - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'gene' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypokalemic periodic paralysis' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with transient compartment-like syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183497 Label: Genetic neuromuscular disease - 'Genetic neuromuscular disease' SubClassOf 'group of disorders' + 'Genetic neuromuscular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122064 Label: ganglioside induced differentiation associated protein 1 - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2H' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4A' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'gene' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' - 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2H' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4A' + 'ganglioside induced differentiation associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ganglioside induced differentiation associated protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' + 'ganglioside induced differentiation associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' Class: http://www.orpha.net/ORDO/Orphanet_178389 Label: Osteopetrosis - hypogammaglobulinemia - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'part_of' some 'Osteopetrosis' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'disease' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'disease' + 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122066 Label: growth differentiation factor 5 - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibular aplasia - complex brachydactyly' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Grebe type' - 'growth differentiation factor 5' SubClassOf 'gene' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A1' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Hunter-Thomson type' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Angel-shaped phalango-epiphyseal dysplasia' - 'growth differentiation factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal symphalangism' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fibular aplasia - complex brachydactyly' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Angel-shaped phalango-epiphyseal dysplasia' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Multiple synostoses syndrome' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Grebe type' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type A2' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Hunter-Thomson type' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type A1' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brachydactyly type C' + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Proximal symphalangism' Class: http://www.orpha.net/ORDO/Orphanet_119164 Label: calcium channel, voltage-dependent, beta 2 subunit - 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, beta 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122062 Label: glycine cleavage system protein H (aminomethyl carrier) - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' - 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'gene' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical glycine encephalopathy' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal glycine encephalopathy' + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine cleavage system protein H (aminomethyl carrier)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile glycine encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_250181 Label: growth differentiation factor 3 - 'growth differentiation factor 3' SubClassOf 'gene' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' - 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' + 'growth differentiation factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'growth differentiation factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178382 Label: Congenital vertical talus - 'Congenital vertical talus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital vertical talus' SubClassOf 'part_of' some 'Congenital deformities of limbs' - 'Congenital vertical talus' SubClassOf 'morphological anomaly' - 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital vertical talus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital vertical talus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital vertical talus' SubClassOf 'morphological anomaly' + 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital vertical talus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital vertical talus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of limbs' Class: http://www.orpha.net/ORDO/Orphanet_250183 Label: polymerase (RNA) I polypeptide C, 30kDa - 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'gene' - 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide C, 30kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122069 Label: GDP dissociation inhibitor 1 - 'GDP dissociation inhibitor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'GDP dissociation inhibitor 1' SubClassOf 'gene' + 'GDP dissociation inhibitor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'GDP dissociation inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'GDP dissociation inhibitor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_35696 Label: Mitochondrial disorder due to a defect in mitochondrial protein synthesis - 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of disorders' + 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363454 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'clinical subtype' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'part_of' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_35698 Label: Mitochondrial DNA depletion syndrome - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of disorders' - 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial DNA depletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75326 Label: Retinal arterial tortuosity - 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some 'sporadic' - 'Retinal arterial tortuosity' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Retinal arterial tortuosity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Retinal arterial tortuosity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Retinal arterial tortuosity' SubClassOf 'disease' - 'Retinal arterial tortuosity' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Retinal arterial tortuosity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Retinal arterial tortuosity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Retinal arterial tortuosity' SubClassOf 'disease' + 'Retinal arterial tortuosity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_75327 Label: North Carolina macular dystrophy - 'North Carolina macular dystrophy' SubClassOf 'disease' - 'North Carolina macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'North Carolina macular dystrophy' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'North Carolina macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'North Carolina macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'North Carolina macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'North Carolina macular dystrophy' SubClassOf 'disease' + 'North Carolina macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'North Carolina macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'North Carolina macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119168 Label: calcium channel, voltage-dependent, beta 4 subunit - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' - 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 5' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 5' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'calcium channel, voltage-dependent, beta 4 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_327795 Label: TIA1 cytotoxic granule-associated RNA binding protein - 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Welander type' - 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf 'gene' + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Distal myopathy, Welander type' + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'TIA1 cytotoxic granule-associated RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_53035 Label: Caroli disease - 'Caroli disease' SubClassOf 'malformation syndrome' - 'Caroli disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Caroli disease' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Caroli disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Caroli disease' SubClassOf 'part_of' some 'Rare biliary tract disease' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Caroli disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Caroli disease' SubClassOf 'malformation syndrome' + 'Caroli disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_75325 Label: Osteosclerosis - ichthyosis - premature ovarian failure - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'disease' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'disease' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_159373 Label: UPF3 regulator of nonsense transcripts homolog B (yeast) - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'gene' - 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25-q26"^^http://www.w3.org/2001/XMLSchema#string + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'UPF3 regulator of nonsense transcripts homolog B (yeast)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' Class: http://www.orpha.net/ORDO/Orphanet_122095 Label: growth hormone receptor - 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to partial GHR deficiency' - 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome' - 'growth hormone receptor' SubClassOf 'gene' + 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to partial GHR deficiency' + 'growth hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laron syndrome' + 'growth hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122099 Label: gastric intrinsic factor (vitamin B synthesis) - 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'gene' - 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital intrinsic factor deficiency' + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'gastric intrinsic factor (vitamin B synthesis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital intrinsic factor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_183469 Label: Genetic hypopigmentation of the skin - 'Genetic hypopigmentation of the skin' SubClassOf 'group of disorders' + 'Genetic hypopigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_26106 Label: Familial gastric cancer - 'Familial gastric cancer' SubClassOf 'disease' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Gastric cancer' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Familial gastric cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial gastric cancer' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial gastric cancer' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Familial gastric cancer' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Familial gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Familial gastric cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial gastric cancer' SubClassOf 'disease' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_178377 Label: Osteosclerosis-developmental delay-craniosynostosis syndrome - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'malformation syndrome' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'malformation syndrome' + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_261120 Label: 14q11.2 microdeletion syndrome - '14q11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - '14q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '14q11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '14q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + '14q11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '14q11.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '14q11.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122097 Label: growth hormone releasing hormone receptor - 'growth hormone releasing hormone receptor' SubClassOf 'gene' - 'growth hormone releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_35687 Label: Erdheim-Chester disease - 'Erdheim-Chester disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' - 'Erdheim-Chester disease' SubClassOf 'disease' - 'Erdheim-Chester disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Systemic non-Langerhans cell histiocytosis' - 'Erdheim-Chester disease' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Erdheim-Chester disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Erdheim-Chester disease' SubClassOf 'disease' + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-Langerhans cell histiocytosis' + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Erdheim-Chester disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic non-Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_35688 Label: Madelung deformity - 'Madelung deformity' SubClassOf 'morphological anomaly' - 'Madelung deformity' SubClassOf 'part_of' some 'Joint formation defects' - 'Madelung deformity' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Madelung deformity' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Madelung deformity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Madelung deformity' SubClassOf 'has_prevalence' some 'Unknown' + 'Madelung deformity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Madelung deformity' SubClassOf 'morphological anomaly' + 'Madelung deformity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Madelung deformity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Madelung deformity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_397709 Label: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_35686 Label: Serpiginous choroiditis - 'Serpiginous choroiditis' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' - 'Serpiginous choroiditis' SubClassOf 'disease' + 'Serpiginous choroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-infectious posterior uveitis' + 'Serpiginous choroiditis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363489 Label: Testicular sex cord-stromal tumor - 'Testicular sex cord-stromal tumor' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Testicular sex cord-stromal tumor' SubClassOf 'disease' + 'Testicular sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular sex cord-stromal tumor' SubClassOf 'disease' + 'Testicular sex cord-stromal tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' + 'Testicular sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_35689 Label: Primary lateral sclerosis - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Motor neuron disease' - 'Primary lateral sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Primary lateral sclerosis' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary lateral sclerosis' SubClassOf 'disease' - 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor neuron disease' + 'Primary lateral sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary lateral sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Primary lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Primary lateral sclerosis' SubClassOf 'disease' + 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary lateral sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_179419 Label: klotho - 'klotho' SubClassOf 'gene' - 'klotho' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial tumoral calcinosis' + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'klotho' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial tumoral calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_183472 Label: Genetic dermis disorder - 'Genetic dermis disorder' SubClassOf 'group of disorders' + 'Genetic dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122092 Label: growth hormone 1 - 'growth hormone 1' SubClassOf 'gene' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type II' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to growth hormone qualitative anomaly' - 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' + 'growth hormone 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22-q24"^^http://www.w3.org/2001/XMLSchema#string + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type II' + 'growth hormone 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to growth hormone qualitative anomaly' + 'growth hormone 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' Class: http://www.orpha.net/ORDO/Orphanet_159370 Label: chloride channel, voltage-sensitive Ka - 'chloride channel, voltage-sensitive Ka' SubClassOf 'gene' - 'chloride channel, voltage-sensitive Ka' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Ka' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363483 Label: Testicular teratoma - 'Testicular teratoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Testicular teratoma' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Testicular teratoma' SubClassOf 'disease' + 'Testicular teratoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular teratoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Testicular teratoma' SubClassOf 'disease' + 'Testicular teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' Class: http://www.orpha.net/ORDO/Orphanet_122083 Label: gamma-glutamyl carboxylase - 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' - 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' - 'gamma-glutamyl carboxylase' SubClassOf 'gene' + 'gamma-glutamyl carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' + 'gamma-glutamyl carboxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' + 'gamma-glutamyl carboxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284786 Label: Qualitative or quantitative defects of troponin - 'Qualitative or quantitative defects of troponin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of troponin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_250165 Label: Genetic polycythemia - 'Genetic polycythemia' SubClassOf 'group of disorders' + 'Genetic polycythemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label: calcium channel, voltage-dependent, L type, alpha 1C subunit - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Timothy syndrome' - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Timothy syndrome' + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1C subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_250168 Label: polymerase (RNA) I polypeptide D, 16kDa - 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'gene' - 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Treacher-Collins syndrome' + 'polymerase (RNA) I polypeptide D, 16kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122086 Label: gamma-glutamyltransferase 1 - 'gamma-glutamyltransferase 1' SubClassOf 'gene' - 'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency' + 'gamma-glutamyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-glutamyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_179413 Label: suppression of tumorigenicity 14 (colon carcinoma) - 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'gene' - 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-hypotrichosis syndrome' + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24-q25"^^http://www.w3.org/2001/XMLSchema#string + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'suppression of tumorigenicity 14 (colon carcinoma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-hypotrichosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183478 Label: Genetic skin vascular disorder - 'Genetic skin vascular disorder' SubClassOf 'group of disorders' + 'Genetic skin vascular disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159387 Label: transmembrane channel-like 8 - 'transmembrane channel-like 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' - 'transmembrane channel-like 8' SubClassOf 'gene' + 'transmembrane channel-like 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' + 'transmembrane channel-like 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane channel-like 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178364 Label: Syndromic microphthalmia type 5 - 'Syndromic microphthalmia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndromic microphthalmia type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic microphthalmia type 5' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Syndromic microphthalmia type 5' SubClassOf 'malformation syndrome' - 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Syndromic microphthalmia type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic microphthalmia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic microphthalmia type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic microphthalmia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndromic microphthalmia type 5' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_59135 Label: Laing early-onset distal myopathy - 'Laing early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Laing early-onset distal myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'Laing early-onset distal myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Laing early-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Laing early-onset distal myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Laing early-onset distal myopathy' SubClassOf 'disease' + 'Laing early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' + 'Laing early-onset distal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Laing early-onset distal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Laing early-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397715 Label: Joubert syndrome with Jeune asphyxiating thoracic dystrophy - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'malformation syndrome' - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363478 Label: Paratesticular adenocarcinoma - 'Paratesticular adenocarcinoma' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Paratesticular adenocarcinoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paratesticular adenocarcinoma' SubClassOf 'disease' + 'Paratesticular adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) + 'Paratesticular adenocarcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paratesticular adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular and paratesticular tumor' + 'Paratesticular adenocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183487 Label: Genetic skin tumor - 'Genetic skin tumor' SubClassOf 'group of disorders' + 'Genetic skin tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_248111 Label: Juvenile Huntington disease - 'Juvenile Huntington disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' - 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Juvenile Huntington disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Juvenile Huntington disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Juvenile Huntington disease' SubClassOf 'disease' + 'Juvenile Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with chorea' + 'Juvenile Huntington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Juvenile Huntington disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Juvenile Huntington disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile Huntington disease' SubClassOf 'disease' + 'Juvenile Huntington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_183481 Label: Genetic mixed dermis disorder - 'Genetic mixed dermis disorder' SubClassOf 'group of disorders' + 'Genetic mixed dermis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363472 Label: Testicular and paratesticular tumor - 'Testicular and paratesticular tumor' SubClassOf 'group of disorders' + 'Testicular and paratesticular tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C030 value "87.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular and paratesticular tumor' SubClassOf 'group of disorders' + 'Testicular and paratesticular tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_119148 Label: calcium channel, voltage-dependent, L type, alpha 1F subunit - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some '�land Islands eye disease' - 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some '�land Islands eye disease' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium channel, voltage-dependent, L type, alpha 1F subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_122080 Label: growth factor independent 1 transcription repressor - 'growth factor independent 1 transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' - 'growth factor independent 1 transcription repressor' SubClassOf 'gene' + 'growth factor independent 1 transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22"^^http://www.w3.org/2001/XMLSchema#string + 'growth factor independent 1 transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' + 'growth factor independent 1 transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_179408 Label: netrin G1 - 'netrin G1' SubClassOf 'gene' - 'netrin G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' + 'netrin G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2-p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'netrin G1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'netrin G1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183484 Label: Genetic subcutaneous tissue disorder - 'Genetic subcutaneous tissue disorder' SubClassOf 'group of disorders' + 'Genetic subcutaneous tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281616 Label: nudE neurodevelopment protein 1 - 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydranencephaly' - 'nudE neurodevelopment protein 1' SubClassOf 'gene' - 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microlissencephaly' + 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydranencephaly' + 'nudE neurodevelopment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string + 'nudE neurodevelopment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nudE neurodevelopment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microlissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_209038 Label: Qualitative or quantitative defects of myofibrillar proteins - 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75382 Label: Oguchi disease - 'Oguchi disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oguchi disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Oguchi disease' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oguchi disease' SubClassOf 'malformation syndrome' + 'Oguchi disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oguchi disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oguchi disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oguchi disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363417 Label: Temtamy preaxial brachydactyly syndrome - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'malformation syndrome' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'malformation syndrome' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Temtamy preaxial brachydactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Temtamy preaxial brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2149 Label: Nodular neuronal heterotopia - 'Nodular neuronal heterotopia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nodular neuronal heterotopia' SubClassOf 'has_prevalence' some 'Unknown' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nodular neuronal heterotopia' SubClassOf 'morphological anomaly' - 'Nodular neuronal heterotopia' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Nodular neuronal heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Nodular neuronal heterotopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Nodular neuronal heterotopia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2148 Label: Lissencephaly type 1 due to doublecortin gene mutation - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'disease' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'disease' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_75381 Label: Cystoid macular dystrophy - 'Cystoid macular dystrophy' SubClassOf 'disease' - 'Cystoid macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cystoid macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cystoid macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cystoid macular dystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Cystoid macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Cystoid macular dystrophy' SubClassOf 'disease' + 'Cystoid macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cystoid macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cystoid macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_397735 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_183447 Label: Genetic epidermal appendage anomaly - 'Genetic epidermal appendage anomaly' SubClassOf 'group of disorders' + 'Genetic epidermal appendage anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2145 Label: Craniosynostosis, Herrmann-Opitz type - 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'malformation syndrome' - 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Craniosynostosis, Herrmann-Opitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_179401 Label: ADP-ribosylation factor-like 13B - 'ADP-ribosylation factor-like 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'ADP-ribosylation factor-like 13B' SubClassOf 'gene' + 'ADP-ribosylation factor-like 13B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'ADP-ribosylation factor-like 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q11"^^http://www.w3.org/2001/XMLSchema#string + 'ADP-ribosylation factor-like 13B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2143 Label: Donnai-Barrow syndrome - 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Donnai-Barrow syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Donnai-Barrow syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Donnai-Barrow syndrome' SubClassOf 'malformation syndrome' - 'Donnai-Barrow syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Donnai-Barrow syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Donnai-Barrow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Donnai-Barrow syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_42738 Label: Severe congenital neutropenia - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe congenital neutropenia' SubClassOf 'group of disorders' - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe congenital neutropenia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.077"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe congenital neutropenia' SubClassOf 'group of disorders' + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe congenital neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe congenital neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2141 Label: Diaphragmatic defect - limb deficiency - skull defect - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'malformation syndrome' - 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'malformation syndrome' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2140 Label: Congenital diaphragmatic hernia - 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenital diaphragmatic hernia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Congenital diaphragmatic hernia' SubClassOf 'morphological anomaly' - 'Congenital diaphragmatic hernia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital diaphragmatic hernia' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or thoracic malformation' + 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some 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(http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'morphological anomaly' + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or thoracic malformation' + 'Congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "39.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital diaphragmatic hernia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75389 Label: Brain malformation - congenital heart disease - postaxial polydactyly - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261102 Label: Distal 7q11.23 microduplication syndrome - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 7' - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal 7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal 7q11.23 microduplication syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_119113 Label: M-phase specific PLK1 interacting protein - 'M-phase specific PLK1 interacting protein' SubClassOf 'gene' - 'M-phase specific PLK1 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'M-phase specific PLK1 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string + 'M-phase specific PLK1 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'M-phase specific PLK1 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_183450 Label: Genetic hair anomaly - 'Genetic hair anomaly' SubClassOf 'group of disorders' + 'Genetic hair anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119117 Label: carbonic anhydrase II - 'carbonic anhydrase II' SubClassOf 'gene' - 'carbonic anhydrase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis with renal tubular acidosis' + 'carbonic anhydrase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'carbonic anhydrase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbonic anhydrase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopetrosis with renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_183454 Label: Genetic nail anomaly - 'Genetic nail anomaly' SubClassOf 'group of disorders' + 'Genetic nail anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397725 Label: COASY protein-associated neurodegeneration - 'COASY protein-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'COASY protein-associated neurodegeneration' SubClassOf 'disease' + 'COASY protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'COASY protein-associated neurodegeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363424 Label: Hypotonia-cerebral atrophy-hyperglycinemia syndrome - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'disease' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'disease' + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_209030 Label: Qualitative or quantitative defects of protein O-mannosyltransferase 1 - 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209033 Label: Qualitative or quantitative defects of protein O-mannosyltransferase 2 - 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209027 Label: Qualitative or quantitative defects of protein glycosyltransferase-like - 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2139 Label: Hern�ndez-Aguirre Negrete syndrome - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'malformation syndrome' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'malformation syndrome' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hern�ndez-Aguirre Negrete syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_363409 Label: Fetal akinesia-cerebral and retinal hemorrhage syndrome - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'disease' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'part_of' some 'Congenital myopathy' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'disease' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2136 Label: Hennekam syndrome - 'Hennekam syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hennekam syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hennekam syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hennekam syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hennekam syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hennekam syndrome' SubClassOf 'malformation syndrome' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hennekam syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Hennekam syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hennekam syndrome' SubClassOf 'malformation syndrome' + 'Hennekam syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2135 Label: Hennekam-Beemer syndrome - 'Hennekam-Beemer syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hennekam-Beemer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hennekam-Beemer syndrome' SubClassOf 'malformation syndrome' - 'Hennekam-Beemer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hennekam-Beemer syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Hennekam-Beemer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hennekam-Beemer syndrome' SubClassOf 'malformation syndrome' + 'Hennekam-Beemer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hennekam-Beemer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2138 Label: 46,XX ovotesticular disorder of sex development - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some '46,XX disorder of gonadal development' - '46,XX ovotesticular disorder of sex development' SubClassOf 'malformation syndrome' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some 'sporadic' + '46,XX ovotesticular disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + '46,XX ovotesticular disorder of sex development' SubClassOf 'malformation syndrome' + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of gonadal development' + '46,XX ovotesticular disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '46,XX ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' Class: http://www.orpha.net/ORDO/Orphanet_397744 Label: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'disease' - 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2137 Label: Chronic autoimmune hepatitis - 'Chronic autoimmune hepatitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic autoimmune hepatitis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Chronic autoimmune hepatitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic autoimmune hepatitis' SubClassOf 'disease' - 'Chronic autoimmune hepatitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf 'disease' + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic autoimmune hepatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic autoimmune hepatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75373 Label: Progressive bifocal chorioretinal atrophy - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'disease' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Progressive bifocal chorioretinal atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'disease' + 'Progressive bifocal chorioretinal atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159367 Label: sprouty-related, EVH1 domain containing 1 - 'sprouty-related, EVH1 domain containing 1' SubClassOf 'gene' - 'sprouty-related, EVH1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legius syndrome' + 'sprouty-related, EVH1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sprouty-related, EVH1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'sprouty-related, EVH1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Legius syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2132 Label: Hemoglobin C disease - 'Hemoglobin C disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hemoglobin C disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin C disease' SubClassOf 'disease' - 'Hemoglobin C disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Hemoglobin C disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin C disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "166.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin C disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26137 Label: Juvenile temporal arteritis - 'Juvenile temporal arteritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile temporal arteritis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile temporal arteritis' SubClassOf 'disease' - 'Juvenile temporal arteritis' SubClassOf 'part_of' some 'Rare vascular disease' + 'Juvenile temporal arteritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile temporal arteritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juvenile temporal arteritis' SubClassOf 'disease' + 'Juvenile temporal arteritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_75374 Label: Bradyopsia - 'Bradyopsia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bradyopsia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Bradyopsia' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Bradyopsia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bradyopsia' SubClassOf 'disease' + 'Bradyopsia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bradyopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bradyopsia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bradyopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Bradyopsia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2131 Label: Alternating hemiplegia of childhood - 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alternating hemiplegia of childhood' SubClassOf 'has_prevalence' some 'Unknown' - 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some 'sporadic' - 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alternating hemiplegia of childhood' SubClassOf 'disease' - 'Alternating hemiplegia of childhood' SubClassOf 'part_of' some 'Alternating hemiplegia' + 'Alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alternating hemiplegia' + 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alternating hemiplegia of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Alternating hemiplegia of childhood' SubClassOf 'disease' + 'Alternating hemiplegia of childhood' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Alternating hemiplegia of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2134 Label: Atypical hemolytic-uremic syndrome - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'disease' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Atypical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Atypical hemolytic-uremic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'disease' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Atypical hemolytic-uremic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atypical hemolytic-uremic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_75376 Label: Familial drusen - 'Familial drusen' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial drusen' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial drusen' SubClassOf 'part_of' some 'Disease predisposing to age-related macular degeneration' - 'Familial drusen' SubClassOf 'part_of' some 'Familial flecked retinopathy' - 'Familial drusen' SubClassOf 'disease' - 'Familial drusen' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Familial drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease predisposing to age-related macular degeneration' + 'Familial drusen' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial drusen' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' + 'Familial drusen' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2133 Label: Hemoglobin E disease - 'Hemoglobin E disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin E disease' SubClassOf 'disease' - 'Hemoglobin E disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin E disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hemoglobin E disease' SubClassOf 'disease' + 'Hemoglobin E disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_75377 Label: Central areolar choroidal dystrophy - 'Central areolar choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Central areolar choroidal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Central areolar choroidal dystrophy' SubClassOf 'disease' - 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Central areolar choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Central areolar choroidal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Central areolar choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Central areolar choroidal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Central areolar choroidal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_261112 Label: Monosomy 9p - 'Monosomy 9p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 9' - 'Monosomy 9p' SubClassOf 'malformation syndrome' + 'Monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 9' + 'Monosomy 9p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75378 Label: Oligocone trichromacy - 'Oligocone trichromacy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oligocone trichromacy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Oligocone trichromacy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Oligocone trichromacy' SubClassOf 'disease' - 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Oligocone trichromacy' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Oligocone trichromacy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oligocone trichromacy' SubClassOf 'disease' + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Oligocone trichromacy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oligocone trichromacy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oligocone trichromacy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Oligocone trichromacy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_119122 Label: carbonic anhydrase IV - 'carbonic anhydrase IV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'carbonic anhydrase IV' SubClassOf 'gene' + 'carbonic anhydrase IV' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'carbonic anhydrase IV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'carbonic anhydrase IV' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2130 Label: Hemimelia - 'Hemimelia' SubClassOf 'group of disorders' + 'Hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hemimelia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159362 Label: visual system homeobox 2 - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' - 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'visual system homeobox 2' SubClassOf 'gene' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' + 'visual system homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'visual system homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'visual system homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159360 Label: potassium channel, subfamily V, member 2 - 'potassium channel, subfamily V, member 2' SubClassOf 'gene' - 'potassium channel, subfamily V, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone dystrophy with supernormal rod response' + 'potassium channel, subfamily V, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily V, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel, subfamily V, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone dystrophy with supernormal rod response' Class: http://www.orpha.net/ORDO/Orphanet_183460 Label: Genetic sebaceous gland anomaly - 'Genetic sebaceous gland anomaly' SubClassOf 'group of disorders' + 'Genetic sebaceous gland anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_406000 Label: SRY (sex determining region Y)-box 11 - 'SRY (sex determining region Y)-box 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' - 'SRY (sex determining region Y)-box 11' SubClassOf 'gene' + 'SRY (sex determining region Y)-box 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SRY (sex determining region Y)-box 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119129 Label: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign paroxysmal torticollis of infancy' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial paroxysmal ataxia' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 6' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign paroxysmal torticollis of infancy' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 6' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial paroxysmal ataxia' Class: http://www.orpha.net/ORDO/Orphanet_183463 Label: Genetic pigmentation anomaly of the skin - 'Genetic pigmentation anomaly of the skin' SubClassOf 'group of disorders' + 'Genetic pigmentation anomaly of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183466 Label: Genetic hyperpigmentation of the skin - 'Genetic hyperpigmentation of the skin' SubClassOf 'group of disorders' + 'Genetic hyperpigmentation of the skin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119127 Label: calcium binding protein 4 - 'calcium binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'calcium binding protein 4' SubClassOf 'gene' + 'calcium binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'calcium binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363412 Label: Hypomyelination with brain stem and spinal cord involvement and leg spasticity - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'disease' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'disease' + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209024 Label: Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397755 Label: Periodic paralysis with transient compartment-like syndrome - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Periodic paralysis' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'disease' - 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'disease' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_2126 Label: Solitary fibrous tumor - 'Solitary fibrous tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Solitary fibrous tumor' SubClassOf 'disease' - 'Solitary fibrous tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Solitary fibrous tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Solitary fibrous tumor' SubClassOf 'disease' + 'Solitary fibrous tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Solitary fibrous tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_209019 Label: Solid tumor associated with an acquired peripheral neuropathy - 'Solid tumor associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Solid tumor associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159339 Label: cation channel, sperm associated 2 - 'cation channel, sperm associated 2' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' - 'cation channel, sperm associated 2' SubClassOf 'gene' + 'cation channel, sperm associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cation channel, sperm associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.3"^^http://www.w3.org/2001/XMLSchema#string + 'cation channel, sperm associated 2' SubClassOf 'Role in the phenotype of' some 'Deafness-infertility syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2124 Label: Cavernous hemangiomas of face - supraumbilical midline raphe - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'part_of' some 'Vascular tumor' - 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'malformation syndrome' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'malformation syndrome' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' Class: http://www.orpha.net/ORDO/Orphanet_397750 Label: Periodic paralysis with later-onset distal motor neuropathy - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Periodic paralysis' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'disease' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'disease' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_59181 Label: Sorsby's fundus dystrophy - 'Sorsby's fundus dystrophy' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Sorsby's fundus dystrophy' SubClassOf 'disease' - 'Sorsby's fundus dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Sorsby's fundus dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sorsby's fundus dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Sorsby's fundus dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sorsby's fundus dystrophy' SubClassOf 'disease' + 'Sorsby's fundus dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sorsby's fundus dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_209016 Label: Hematological disease associated with an acquired peripheral neuropathy - 'Hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2128 Label: Hemihypertrophy - 'Hemihypertrophy' SubClassOf 'morphological anomaly' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Hemihypertrophy' SubClassOf 'part_of' some 'Macroglossia' + 'Hemihypertrophy' SubClassOf 'morphological anomaly' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_406016 Label: DNA (cytosine-5-)-methyltransferase 3 alpha - 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'gene' - 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature-intellectual disability-facial dysmorphism syndrome' + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature-intellectual disability-facial dysmorphism syndrome' + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320192 Label: cytochrome P450, family 26, subfamily C, polypeptide 1 - 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type IV' + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Focal facial dermal dysplasia type IV' + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2123 Label: Diffuse neonatal hemangiomatosis - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'part_of' some 'Vascular tumor' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'malformation syndrome' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse neonatal hemangiomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse neonatal hemangiomatosis' SubClassOf 'malformation syndrome' + 'Diffuse neonatal hemangiomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse neonatal hemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_320199 Label: La ribonucleoprotein domain family, member 7 - 'La ribonucleoprotein domain family, member 7' SubClassOf 'gene' - 'La ribonucleoprotein domain family, member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Alazami type' + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Microcephalic primordial dwarfism, Alazami type' + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'La ribonucleoprotein domain family, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159333 Label: lipase, member H - 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' - 'lipase, member H' SubClassOf 'gene' + 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'lipase, member H' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'lipase, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, member H' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183426 Label: Genetic epidermal disorder - 'Genetic epidermal disorder' SubClassOf 'group of disorders' + 'Genetic epidermal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2122 Label: Kaposiform hemangioendothelioma - 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Kaposiform hemangioendothelioma' SubClassOf 'disease' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Kaposiform hemangioendothelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Kaposiform hemangioendothelioma' SubClassOf 'disease' + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Kaposiform hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Kaposiform hemangioendothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kaposiform hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_200418 Label: Immunodeficiency with factor I anomaly - 'Immunodeficiency with factor I anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immunodeficiency with factor I anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency with factor I anomaly' SubClassOf 'disease' - 'Immunodeficiency with factor I anomaly' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor I anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency with factor I anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor I anomaly' SubClassOf 'disease' + 'Immunodeficiency with factor I anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_199900 Label: kin of IRRE like 3 (Drosophila) - 'kin of IRRE like 3 (Drosophila)' SubClassOf 'gene' - 'kin of IRRE like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'kin of IRRE like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'kin of IRRE like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'kin of IRRE like 3 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406010 Label: activity-dependent neuroprotector homeobox - 'activity-dependent neuroprotector homeobox' SubClassOf 'gene' - 'activity-dependent neuroprotector homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' + 'activity-dependent neuroprotector homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'activity-dependent neuroprotector homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' + 'activity-dependent neuroprotector homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363440 Label: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_200421 Label: Immunodeficiency with factor H anomaly - 'Immunodeficiency with factor H anomaly' SubClassOf 'disease' - 'Immunodeficiency with factor H anomaly' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency with factor H anomaly' SubClassOf 'disease' + 'Immunodeficiency with factor H anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' Class: http://www.orpha.net/ORDO/Orphanet_315800 Label: HEAT repeat containing 2 - 'HEAT repeat containing 2' SubClassOf 'gene' - 'HEAT repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'HEAT repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'HEAT repeat containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'HEAT repeat containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_30391 Label: Biliary atresia - 'Biliary atresia' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' - 'Biliary atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Biliary atresia' SubClassOf 'morphological anomaly' - 'Biliary atresia' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Biliary atresia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Biliary atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic visceral malformation' + 'Biliary atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Biliary atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf 'morphological anomaly' + 'Biliary atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Biliary atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410068) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "32.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_209013 Label: Acquired amyloid peripheral neuropathy - 'Acquired amyloid peripheral neuropathy' SubClassOf 'group of disorders' + 'Acquired amyloid peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363444 Label: Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'disease' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'disease' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209010 Label: Peripheral neuropathy associated with monoclonal gammopathy - 'Peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'group of disorders' + 'Peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363447 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'disease' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'disease' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_2114 Label: Hip dysplasia, Beukes type - 'Hip dysplasia, Beukes type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hip dysplasia, Beukes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hip dysplasia, Beukes type' SubClassOf 'disease' - 'Hip dysplasia, Beukes type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hip dysplasia, Beukes type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Hip dysplasia, Beukes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hip dysplasia, Beukes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hip dysplasia, Beukes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hip dysplasia, Beukes type' SubClassOf 'disease' + 'Hip dysplasia, Beukes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_363429 Label: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2116 Label: Hartnup disease - 'Hartnup disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hartnup disease' SubClassOf 'part_of' some 'Disorder of neutral amino acid transport' - 'Hartnup disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hartnup disease' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Hartnup disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hartnup disease' SubClassOf 'disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Hartnup disease' SubClassOf 'part_of' some 'Rare photodermatosis' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neutral amino acid transport' + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Hartnup disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hartnup disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hartnup disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hartnup disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2115 Label: Harrod syndrome - 'Harrod syndrome' SubClassOf 'malformation syndrome' - 'Harrod syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Harrod syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Harrod syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Harrod syndrome' SubClassOf 'malformation syndrome' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_209004 Label: Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy - 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'disease' + 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2118 Label: Hawkinsinuria - 'Hawkinsinuria' SubClassOf 'disease' - 'Hawkinsinuria' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' - 'Hawkinsinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hawkinsinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hawkinsinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hawkinsinuria' SubClassOf 'disease' + 'Hawkinsinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hawkinsinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hawkinsinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_2117 Label: Hartsfield-Bixler-Demyer syndrome - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'malformation syndrome' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'malformation syndrome' + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hartsfield-Bixler-Demyer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_209007 Label: Systemic inflammatory disease associated with an acquired peripheral neuropathy - 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' + 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2119 Label: HEC syndrome - 'HEC syndrome' SubClassOf 'part_of' some 'Restrictive cardiomyopathy' - 'HEC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'HEC syndrome' SubClassOf 'part_of' some 'Dilated cardiomyopathy' - 'HEC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'HEC syndrome' SubClassOf 'malformation syndrome' + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dilated cardiomyopathy' + 'HEC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'HEC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HEC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'HEC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Restrictive cardiomyopathy' + 'HEC syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159341 Label: tau tubulin kinase 2 - 'tau tubulin kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 11' - 'tau tubulin kinase 2' SubClassOf 'gene' + 'tau tubulin kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 11' + 'tau tubulin kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tau tubulin kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183438 Label: Genetic erythrokeratoderma - 'Genetic erythrokeratoderma' SubClassOf 'group of disorders' + 'Genetic erythrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159345 Label: cholinergic receptor, nicotinic, alpha 2 (neuronal) - 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' - 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2110 Label: Hallux varus - preaxial polysyndactyly - 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' - 'Hallux varus - preaxial polysyndactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' + 'Hallux varus - preaxial polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' Class: http://www.orpha.net/ORDO/Orphanet_183435 Label: Inherited ichthyosis - 'Inherited ichthyosis' SubClassOf 'group of disorders' + 'Inherited ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Inherited ichthyosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_109011 Label: Non-syndromic limb malformation - 'Non-syndromic limb malformation' SubClassOf 'group of disorders' + 'Non-syndromic limb malformation' SubClassOf 'group of disorders' + 'Non-syndromic limb malformation' SubClassOf 'Genetic congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_183441 Label: Genetic acrokeratoderma - 'Genetic acrokeratoderma' SubClassOf 'group of disorders' + 'Genetic acrokeratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119106 Label: complement component 2 - 'complement component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 2' SubClassOf 'gene' + 'complement component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183444 Label: Genetic porokeratosis - 'Genetic porokeratosis' SubClassOf 'group of disorders' + 'Genetic porokeratosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119101 Label: BUB1 mitotic checkpoint serine/threonine kinase B - 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'gene' - 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15"^^http://www.w3.org/2001/XMLSchema#string + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mosaic variegated aneuploidy syndrome' + 'BUB1 mitotic checkpoint serine/threonine kinase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363432 Label: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' - 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'clinical subtype' + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' + 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_95409 Label: Acute adrenal insufficiency - 'Acute adrenal insufficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acute adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute adrenal insufficiency' SubClassOf 'part_of' some 'Primary adrenal insufficiency' - 'Acute adrenal insufficiency' SubClassOf 'clinical syndrome' + 'Acute adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acute adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Acute adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary adrenal insufficiency' + 'Acute adrenal insufficiency' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397758 Label: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'disease' - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'disease' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_64720 Label: Leiomyosarcoma - 'Leiomyosarcoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated mesenchymal tumor' - 'Leiomyosarcoma' SubClassOf 'disease' - 'Leiomyosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Leiomyosarcoma' SubClassOf 'disease' + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_117957 Label: POU class 4 homeobox 3 - 'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'POU class 4 homeobox 3' SubClassOf 'gene' + 'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'POU class 4 homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 4 homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_109009 Label: Syndrome with limb malformations as a major feature - 'Syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' + 'Syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_109007 Label: Arthrogryposis syndrome - 'Arthrogryposis syndrome' SubClassOf 'group of disorders' + 'Arthrogryposis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95434 Label: Autosomal recessive cerebellar ataxia - saccadic intrusion - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_117952 Label: POU class 3 homeobox 4 - 'POU class 3 homeobox 4' SubClassOf 'Role in the phenotype of' some 'Developmental delay - deafness, Hildebrand type' - 'POU class 3 homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mixed deafness with perilymphatic gusher' - 'POU class 3 homeobox 4' SubClassOf 'gene' + 'POU class 3 homeobox 4' SubClassOf 'Role in the phenotype of' some 'Developmental delay - deafness, Hildebrand type' + 'POU class 3 homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mixed deafness with perilymphatic gusher' + 'POU class 3 homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POU class 3 homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95443 Label: Mesocardia - 'Mesocardia' SubClassOf 'part_of' some 'Heart position anomaly' - 'Mesocardia' SubClassOf 'morphological anomaly' + 'Mesocardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart position anomaly' + 'Mesocardia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_404514 Label: Acquired kidney disease-associated renal cell carcinoma - 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_178315 Label: Undifferentiated embryonal sarcoma of the liver - 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'part_of' some 'Rare hepatic tumor' - 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_123243 Label: microphthalmia-associated transcription factor - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Clear cell renal carcinoma' - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' - 'microphthalmia-associated transcription factor' SubClassOf 'gene' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' - 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Papillary renal cell carcinoma' - 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tietz syndrome' + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Waardenburg syndrome type 2' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' + 'microphthalmia-associated transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.1-p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular albinism with congenital sensorineural deafness' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Papillary renal cell carcinoma' + 'microphthalmia-associated transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tietz syndrome' + 'microphthalmia-associated transcription factor' SubClassOf 'Major susceptibility factor in' some 'Clear cell papillary renal cell carcinoma' + 'microphthalmia-associated transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_404511 Label: Clear cell papillary renal cell carcinoma - 'Clear cell papillary renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell papillary renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_123245 Label: McKusick-Kaufman syndrome (Gen) - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'gene' - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'McKusick-Kaufman syndrome' + 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'McKusick-Kaufman syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'McKusick-Kaufman syndrome (Gen)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string + 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'McKusick-Kaufman syndrome' Class: http://www.orpha.net/ORDO/Orphanet_37042 Label: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'disease' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Severe immune-mediated enteropathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'disease' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117969 Label: protoporphyrinogen oxidase - 'protoporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' - 'protoporphyrinogen oxidase' SubClassOf 'gene' + 'protoporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protoporphyrinogen oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'protoporphyrinogen oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria variegata' Class: http://www.orpha.net/ORDO/Orphanet_95427 Label: Secondary short bowel syndrome - 'Secondary short bowel syndrome' SubClassOf 'part_of' some 'Short bowel syndrome' - 'Secondary short bowel syndrome' SubClassOf 'disease' + 'Secondary short bowel syndrome' SubClassOf 'disease' + 'Secondary short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short bowel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95428 Label: COG8-CDG - 'COG8-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'COG8-CDG' SubClassOf 'part_of' some 'Defect in conserved oligomeric Golgi complex' - 'COG8-CDG' SubClassOf 'disease' - 'COG8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'COG8-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'COG8-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'COG8-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Defect in conserved oligomeric Golgi complex' + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'COG8-CDG' SubClassOf 'disease' + 'COG8-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'COG8-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'COG8-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'COG8-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_95429 Label: Angioma serpiginosum - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Skin vascular disease' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'sporadic' - 'Angioma serpiginosum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Angioma serpiginosum' SubClassOf 'disease' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angioma serpiginosum' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Angioma serpiginosum' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Angioma serpiginosum' SubClassOf 'part_of' some 'Vascular tumor' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Angioma serpiginosum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Angioma serpiginosum' SubClassOf 'disease' + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angioma serpiginosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Angioma serpiginosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_117964 Label: peroxisome proliferator-activated receptor gamma - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PPARG mutations' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'peroxisome proliferator-activated receptor gamma' SubClassOf 'gene' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PPARG mutations' + 'peroxisome proliferator-activated receptor gamma' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'peroxisome proliferator-activated receptor gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisome proliferator-activated receptor gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117961 Label: POU class 6 homeobox 2 - 'POU class 6 homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' - 'POU class 6 homeobox 2' SubClassOf 'gene' + 'POU class 6 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 6 homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Nephroblastoma' + 'POU class 6 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95431 Label: Twin to twin transfusion syndrome - 'Twin to twin transfusion syndrome' SubClassOf 'part_of' some 'Rare hematologic disease' - 'Twin to twin transfusion syndrome' SubClassOf 'disease' - 'Twin to twin transfusion syndrome' SubClassOf 'part_of' some 'Rare immune disease' + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' + 'Twin to twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hematologic disease' + 'Twin to twin transfusion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95430 Label: Congenital tracheomalacia - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Tracheal anomaly' - 'Congenital tracheomalacia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital tracheomalacia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital tracheomalacia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital tracheomalacia' SubClassOf 'morphological anomaly' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' + 'Congenital tracheomalacia' SubClassOf 'morphological anomaly' + 'Congenital tracheomalacia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_178303 Label: 8q22.1 microdeletion syndrome - '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - '8q22.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q22.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '8q22.1 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8q22.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '8q22.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q22.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '8q22.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '8q22.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' Class: http://www.orpha.net/ORDO/Orphanet_95433 Label: Autosomal recessive cerebellar ataxia - blindness - deafness - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_404521 Label: Spinal muscular atrophy with respiratory distress type 2 - 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'disease' - 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy' + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'disease' + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_95432 Label: Primary progressive aphasia - 'Primary progressive aphasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Primary progressive aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary progressive aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary progressive aphasia' SubClassOf 'group of disorders' + 'Primary progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary progressive aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Primary progressive aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary progressive aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary progressive aphasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178307 Label: Reticulate acropigmentation of Kitamura - 'Reticulate acropigmentation of Kitamura' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'disease' - 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Reticulate acropigmentation of Kitamura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'disease' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Reticulate acropigmentation of Kitamura' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123238 Label: major intrinsic protein of lens fiber - 'major intrinsic protein of lens fiber' SubClassOf 'gene' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' - 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'major intrinsic protein of lens fiber' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'major intrinsic protein of lens fiber' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'major intrinsic protein of lens fiber' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_64722 Label: Granulomatous mastitis - 'Granulomatous mastitis' SubClassOf 'part_of' some 'Rare non-malformative breast disease' - 'Granulomatous mastitis' SubClassOf 'disease' + 'Granulomatous mastitis' SubClassOf 'disease' + 'Granulomatous mastitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative breast disease' Class: http://www.orpha.net/ORDO/Orphanet_89043 Label: Rare dementia - 'Rare dementia' SubClassOf 'group of disorders' + 'Rare dementia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252206 Label: Melanoma and neural system tumor syndrome - 'Melanoma and neural system tumor syndrome' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Melanoma and neural system tumor syndrome' SubClassOf 'disease' + 'Melanoma and neural system tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Melanoma and neural system tumor syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117978 Label: palmitoyl-protein thioesterase 1 - 'palmitoyl-protein thioesterase 1' SubClassOf 'gene' - 'palmitoyl-protein thioesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN1 disease' + 'palmitoyl-protein thioesterase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN1 disease' + 'palmitoyl-protein thioesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'palmitoyl-protein thioesterase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95458 Label: Tricuspid valve prolapse - 'Tricuspid valve prolapse' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Tricuspid valve prolapse' SubClassOf 'morphological anomaly' + 'Tricuspid valve prolapse' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Tricuspid valve prolapse' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95459 Label: Congenital tricuspid stenosis - 'Congenital tricuspid stenosis' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Congenital tricuspid stenosis' SubClassOf 'morphological anomaly' + 'Congenital tricuspid stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Congenital tricuspid stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_117973 Label: protein phosphatase 2, regulatory subunit B, beta - 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'gene' - 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 12' + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q32"^^http://www.w3.org/2001/XMLSchema#string + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 12' + 'protein phosphatase 2, regulatory subunit B, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95457 Label: Tricuspid valve agenesis - 'Tricuspid valve agenesis' SubClassOf 'morphological anomaly' - 'Tricuspid valve agenesis' SubClassOf 'part_of' some 'Congenital tricuspid malformation' + 'Tricuspid valve agenesis' SubClassOf 'morphological anomaly' + 'Tricuspid valve agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_95462 Label: Accessory tricuspid valve tissue - 'Accessory tricuspid valve tissue' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Accessory tricuspid valve tissue' SubClassOf 'morphological anomaly' + 'Accessory tricuspid valve tissue' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Accessory tricuspid valve tissue' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_394081 Label: lipoyltransferase 1 - 'lipoyltransferase 1' SubClassOf 'gene' - 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoyl transferase 1 deficiency' - 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'lipoyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoyl transferase 1 deficiency' + 'lipoyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123263 Label: mutL homolog 1 - 'mutL homolog 1' SubClassOf 'gene' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' - 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'mutL homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutL homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' + 'mutL homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251287 Label: Benign concentric annular macular dystrophy - 'Benign concentric annular macular dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Benign concentric annular macular dystrophy' SubClassOf 'disease' - 'Benign concentric annular macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Benign concentric annular macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Benign concentric annular macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign concentric annular macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Benign concentric annular macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign concentric annular macular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95461 Label: Straddling or overriding tricuspid valve - 'Straddling or overriding tricuspid valve' SubClassOf 'morphological anomaly' - 'Straddling or overriding tricuspid valve' SubClassOf 'part_of' some 'Congenital tricuspid malformation' + 'Straddling or overriding tricuspid valve' SubClassOf 'morphological anomaly' + 'Straddling or overriding tricuspid valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' Class: http://www.orpha.net/ORDO/Orphanet_95465 Label: Cleft mitral valve - 'Cleft mitral valve' SubClassOf 'morphological anomaly' - 'Cleft mitral valve' SubClassOf 'part_of' some 'Congenital mitral malformation' + 'Cleft mitral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral malformation' + 'Cleft mitral valve' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95464 Label: Congenital mitral valve insufficiency and/or stenosis - 'Congenital mitral valve insufficiency and/or stenosis' SubClassOf 'group of disorders' + 'Congenital mitral valve insufficiency and/or stenosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95463 Label: Anomaly of the tricuspid subvalvular apparatus - 'Anomaly of the tricuspid subvalvular apparatus' SubClassOf 'group of disorders' + 'Anomaly of the tricuspid subvalvular apparatus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252212 Label: Malignant triton tumor - 'Malignant triton tumor' SubClassOf 'part_of' some 'Malignant peripheral nerve sheath tumor' - 'Malignant triton tumor' SubClassOf 'clinical subtype' + 'Malignant triton tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant peripheral nerve sheath tumor' + 'Malignant triton tumor' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_408636 Label: solute carrier family 26 (anion exchanger), member 8 - 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' - 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'gene' + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123269 Label: mutL homolog 3 - 'mutL homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'mutL homolog 3' SubClassOf 'gene' + 'mutL homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mutL homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'mutL homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212927 Label: fat mass and obesity associated - 'fat mass and obesity associated' SubClassOf 'gene' - 'fat mass and obesity associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal polymalformative syndrome, Boissel type' + 'fat mass and obesity associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fat mass and obesity associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal polymalformative syndrome, Boissel type' + 'fat mass and obesity associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251282 Label: Autosomal dominant spastic ataxia type 1 - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'part_of' some 'Autosomal dominant spastic ataxia' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'disease' - 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant spastic ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant spastic ataxia' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'disease' + 'Autosomal dominant spastic ataxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_408642 Label: septin 12 - 'septin 12' SubClassOf 'gene' - 'septin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'septin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'septin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'septin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_179490 Label: Obesity due to congenital leptin resistance - 'Obesity due to congenital leptin resistance' SubClassOf 'group of disorders' + 'Obesity due to congenital leptin resistance' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117989 Label: papillary renal cell carcinoma (translocation-associated) - 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'gene' + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'papillary renal cell carcinoma (translocation-associated)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_117983 Label: polyglutamine binding protein 1 - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Sutherland-Haan type' - 'polyglutamine binding protein 1' SubClassOf 'gene' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hamel cerebro-palato-cardiac syndrome' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Golabi-Ito-Hall type' - 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Porteous type' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Sutherland-Haan type' + 'polyglutamine binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polyglutamine binding protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hamel cerebro-palato-cardiac syndrome' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Golabi-Ito-Hall type' + 'polyglutamine binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Porteous type' Class: http://www.orpha.net/ORDO/Orphanet_95448 Label: Aortic valve atresia - 'Aortic valve atresia' SubClassOf 'clinical subtype' - 'Aortic valve atresia' SubClassOf 'part_of' some 'Congenital aortic valve stenosis' + 'Aortic valve atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital aortic valve stenosis' + 'Aortic valve atresia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_95449 Label: Congenital aortic valve insufficiency - 'Congenital aortic valve insufficiency' SubClassOf 'part_of' some 'Aortic malformation' - 'Congenital aortic valve insufficiency' SubClassOf 'disease' + 'Congenital aortic valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' + 'Congenital aortic valve insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123253 Label: Meckel syndrome, type 1 - 'Meckel syndrome, type 1' SubClassOf 'gene' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' + 'Meckel syndrome, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' + 'Meckel syndrome, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21-q24"^^http://www.w3.org/2001/XMLSchema#string + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95455 Label: Toxic epidermal necrolysis - 'Toxic epidermal necrolysis' SubClassOf 'disease' - 'Toxic epidermal necrolysis' SubClassOf 'has_inheritance' some 'sporadic' - 'Toxic epidermal necrolysis' SubClassOf 'part_of' some 'Toxic dermatosis' - 'Toxic epidermal necrolysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Toxic epidermal necrolysis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Toxic epidermal necrolysis' SubClassOf 'disease' + 'Toxic epidermal necrolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.189"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) + 'Toxic epidermal necrolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic epidermal necrolysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Toxic epidermal necrolysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.19"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_75392 Label: Ehlers-Danlos syndrome, periodontitis type - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_prevalence' some 'Unknown' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251290 Label: Parietal foramina with cleidocranial dysplasia - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'malformation syndrome' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Parietal foramina with cleidocranial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75391 Label: Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'disease' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'Primary immunodeficiency due to a defect in innate immunity' - 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary immunodeficiency due to a defect in innate immunity' + 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404507 Label: Chondromyxoid fibroma - 'Chondromyxoid fibroma' SubClassOf 'disease' - 'Chondromyxoid fibroma' SubClassOf 'part_of' some 'Rare bone tumor' + 'Chondromyxoid fibroma' SubClassOf 'disease' + 'Chondromyxoid fibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_179494 Label: Obesity due to leptin receptor gene deficiency - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'part_of' some 'Obesity due to congenital leptin resistance' - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'disease' - 'Obesity due to leptin receptor gene deficiency' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Obesity due to leptin receptor gene deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Obesity due to congenital leptin resistance' + 'Obesity due to leptin receptor gene deficiency' SubClassOf 'disease' + 'Obesity due to leptin receptor gene deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_123257 Label: megalencephalic leukoencephalopathy with subcortical cysts 1 - 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'gene' - 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'megalencephalic leukoencephalopathy with subcortical cysts 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251295 Label: Pigmented paravenous retinochoroidal atrophy - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'disease' - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117992 Label: progressive rod-cone degeneration - 'progressive rod-cone degeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'progressive rod-cone degeneration' SubClassOf 'gene' + 'progressive rod-cone degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'progressive rod-cone degeneration' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'progressive rod-cone degeneration' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_117995 Label: perforin 1 (pore forming protein) - 'perforin 1 (pore forming protein)' SubClassOf 'gene' - 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' - 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal post-viral neurodegenerative disorder' - 'perforin 1 (pore forming protein)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hemophagocytic lymphohistiocytosis' + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22"^^http://www.w3.org/2001/XMLSchema#string + 'perforin 1 (pore forming protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal post-viral neurodegenerative disorder' + 'perforin 1 (pore forming protein)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic aplastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_408654 Label: dynein, axonemal, heavy chain 1 - 'dynein, axonemal, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' - 'dynein, axonemal, heavy chain 1' SubClassOf 'gene' + 'dynein, axonemal, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'dynein, axonemal, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21-p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251262 Label: Familial osteochondritis dissecans - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Osteonecrosis of genetic origin' - 'Familial osteochondritis dissecans' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial osteochondritis dissecans' SubClassOf 'disease' - 'Familial osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' - 'Familial osteochondritis dissecans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Osteonecrosis' + 'Familial osteochondritis dissecans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggrecan-related bone disorder' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis' + 'Familial osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial osteochondritis dissecans' SubClassOf 'disease' + 'Familial osteochondritis dissecans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteonecrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_123201 Label: MET proto-oncogene, receptor tyrosine kinase - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'gene' - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary renal cell carcinoma' + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_64755 Label: Becker nevus syndrome - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Becker nevus syndrome' SubClassOf 'disease' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Becker nevus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Becker nevus syndrome' SubClassOf 'disease' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_284790 Label: Qualitative or quantitative defects of tropomyosin - 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123207 Label: mitofusin 2 - 'mitofusin 2' SubClassOf 'gene' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 5' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 6' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' - 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to MFN2 deficiency' + 'mitofusin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'mitofusin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 5' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary motor and sensory neuropathy type 6' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' + 'mitofusin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe early-onset axonal neuropathy due to MFN2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_212909 Label: forkhead box F1 - 'forkhead box F1' SubClassOf 'gene' - 'forkhead box F1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alveolar capillary dysplasia' + 'forkhead box F1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box F1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box F1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital alveolar capillary dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_95487 Label: Atypical arterial duct - 'Atypical arterial duct' SubClassOf 'clinical subtype' - 'Atypical arterial duct' SubClassOf 'part_of' some 'Patent arterial duct' + 'Atypical arterial duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patent arterial duct' + 'Atypical arterial duct' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119194 Label: caveolin 3 - 'caveolin 3' SubClassOf 'gene' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1C' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rippling muscle disease' - 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rippling muscle disease' + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1C' + 'caveolin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caveolin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'caveolin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95488 Label: Non-acquired pituitary hormone deficiency - 'Non-acquired pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Non-acquired pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178355 Label: Smith-McCort dysplasia - 'Smith-McCort dysplasia' SubClassOf 'disease' - 'Smith-McCort dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Smith-McCort dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Smith-McCort dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Smith-McCort dysplasia' SubClassOf 'disease' + 'Smith-McCort dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_95485 Label: Arterial duct anomaly - 'Arterial duct anomaly' SubClassOf 'group of disorders' + 'Arterial duct anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119192 Label: catalase - 'catalase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acatalasemia' - 'catalase' SubClassOf 'gene' + 'catalase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catalase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'catalase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acatalasemia' Class: http://www.orpha.net/ORDO/Orphanet_95486 Label: Premature closure of the arterial duct - 'Premature closure of the arterial duct' SubClassOf 'part_of' some 'Arterial duct anomaly' - 'Premature closure of the arterial duct' SubClassOf 'morphological anomaly' + 'Premature closure of the arterial duct' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arterial duct anomaly' + 'Premature closure of the arterial duct' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_95483 Label: Univentricular cardiopathy - 'Univentricular cardiopathy' SubClassOf 'group of disorders' + 'Univentricular cardiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95484 Label: Aneurysm or dilatation of ascending aorta - 'Aneurysm or dilatation of ascending aorta' SubClassOf 'part_of' some 'Ascending aorta anomaly' - 'Aneurysm or dilatation of ascending aorta' SubClassOf 'morphological anomaly' + 'Aneurysm or dilatation of ascending aorta' SubClassOf 'morphological anomaly' + 'Aneurysm or dilatation of ascending aorta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' Class: http://www.orpha.net/ORDO/Orphanet_119199 Label: cystathionine-beta-synthase - 'cystathionine-beta-synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical homocystinuria' - 'cystathionine-beta-synthase' SubClassOf 'gene' + 'cystathionine-beta-synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classical homocystinuria' + 'cystathionine-beta-synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'cystathionine-beta-synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363494 Label: Testicular non seminomatous germ cell tumor - 'Testicular non seminomatous germ cell tumor' SubClassOf 'part_of' some 'Testicular germ cell tumor' - 'Testicular non seminomatous germ cell tumor' SubClassOf 'disease' + 'Testicular non seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.21"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular non seminomatous germ cell tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "33.53"^^http://www.w3.org/2001/XMLSchema#string) + 'Testicular non seminomatous germ cell tumor' SubClassOf 'disease' + 'Testicular non seminomatous germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Testicular germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_56425 Label: Cold agglutinin disease - 'Cold agglutinin disease' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia, cold type' - 'Cold agglutinin disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cold agglutinin disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cold agglutinin disease' SubClassOf 'disease' - 'Cold agglutinin disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Cold agglutinin disease' SubClassOf 'disease' + 'Cold agglutinin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia, cold type' + 'Cold agglutinin disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Cold agglutinin disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cold agglutinin disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_212921 Label: adaptor-related protein complex 4, mu 1 subunit - 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability and progressive spastic paraplegia' + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 4, mu 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212917 Label: urocanate hydratase 1 - 'urocanate hydratase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Urocanic aciduria' - 'urocanate hydratase 1' SubClassOf 'gene' + 'urocanate hydratase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'urocanate hydratase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Urocanic aciduria' + 'urocanate hydratase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251270 Label: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'gene' - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' - 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 2' + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' Class: http://www.orpha.net/ORDO/Orphanet_267449 Label: mitochondrially encoded tRNA valine - 'mitochondrially encoded tRNA valine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA valine' SubClassOf 'gene' + 'mitochondrially encoded tRNA valine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA valine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA valine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178342 Label: Inflammatory myofibroblastic tumor - 'Inflammatory myofibroblastic tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Inflammatory myofibroblastic tumor' SubClassOf 'disease' + 'Inflammatory myofibroblastic tumor' SubClassOf 'disease' + 'Inflammatory myofibroblastic tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_95474 Label: Double-orifice mitral valve - 'Double-orifice mitral valve' SubClassOf 'clinical subtype' - 'Double-orifice mitral valve' SubClassOf 'part_of' some 'Cleft mitral valve' + 'Double-orifice mitral valve' SubClassOf 'clinical subtype' + 'Double-orifice mitral valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleft mitral valve' Class: http://www.orpha.net/ORDO/Orphanet_251279 Label: Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'part_of' some 'Isolated anophthalmia - microphthalmia' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'disease' - 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anophthalmia - microphthalmia' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'disease' + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178345 Label: Aromatase excess syndrome - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle of genetic origin' - 'Aromatase excess syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle' - 'Aromatase excess syndrome' SubClassOf 'disease' - 'Aromatase excess syndrome' SubClassOf 'part_of' some 'Precocious puberty' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Precocious puberty' + 'Aromatase excess syndrome' SubClassOf 'disease' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle' + 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anomaly of puberty or/and menstrual cycle of genetic origin' + 'Aromatase excess syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251274 Label: Familial hyperaldosteronism type III - 'Familial hyperaldosteronism type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial hyperaldosteronism type III' SubClassOf 'disease' - 'Familial hyperaldosteronism type III' SubClassOf 'part_of' some 'Familial hyperaldosteronism' - 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial hyperaldosteronism type III' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial hyperaldosteronism type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperaldosteronism' + 'Familial hyperaldosteronism type III' SubClassOf 'disease' + 'Familial hyperaldosteronism type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial hyperaldosteronism type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial hyperaldosteronism type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_29072 Label: Hereditary pheochromocytoma-paraganglioma - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Genetic hypertension' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Genetic endocrine tumor' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'disease' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic endocrine tumor' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'disease' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_34592 Label: Immunodeficiency by defective expression of HLA class 1 - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'disease' + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119179 Label: caspase 10, apoptosis-related cysteine peptidase - 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'gene' - 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase 10, apoptosis-related cysteine peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_29073 Label: Multiple myeloma - 'Multiple myeloma' SubClassOf 'disease' - 'Multiple myeloma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Multiple myeloma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple myeloma' SubClassOf 'part_of' some 'Hematological disease associated with an acquired peripheral neuropathy' - 'Multiple myeloma' SubClassOf 'part_of' some 'Plasma cell tumor' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple myeloma' SubClassOf 'disease' + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disease associated with an acquired peripheral neuropathy' + 'Multiple myeloma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64741 Label: Pulmonary blastoma - 'Pulmonary blastoma' SubClassOf 'disease' - 'Pulmonary blastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary blastoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Pulmonary blastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pulmonary blastoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Pulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Pulmonary blastoma' SubClassOf 'disease' + 'Pulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_64740 Label: Recurrent acute pancreatitis - 'Recurrent acute pancreatitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Recurrent acute pancreatitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Recurrent acute pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Recurrent acute pancreatitis' SubClassOf 'disease' - 'Recurrent acute pancreatitis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Recurrent acute pancreatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Recurrent acute pancreatitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Recurrent acute pancreatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Recurrent acute pancreatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Recurrent acute pancreatitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64743 Label: Hepatoportal sclerosis - 'Hepatoportal sclerosis' SubClassOf 'part_of' some 'Rare vascular liver disease' - 'Hepatoportal sclerosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hepatoportal sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatoportal sclerosis' SubClassOf 'disease' + 'Hepatoportal sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vascular liver disease' + 'Hepatoportal sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hepatoportal sclerosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64742 Label: Pleuropulmonary blastoma - 'Pleuropulmonary blastoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleuropulmonary blastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pleuropulmonary blastoma' SubClassOf 'disease' - 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pleuropulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Pleuropulmonary blastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleuropulmonary blastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pleuropulmonary blastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pleuropulmonary blastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178330 Label: Heinz body anemia - 'Heinz body anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heinz body anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Heinz body anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Heinz body anemia' SubClassOf 'disease' + 'Heinz body anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heinz body anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heinz body anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Heinz body anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64734 Label: Iridocorneal endothelial syndrome - 'Iridocorneal endothelial syndrome' SubClassOf 'disease' - 'Iridocorneal endothelial syndrome' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Iridocorneal endothelial syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Iridocorneal endothelial syndrome' SubClassOf 'part_of' some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Iridocorneal endothelial syndrome' SubClassOf 'disease' + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Iridocorneal endothelial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Iridocorneal endothelial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123227 Label: macrophage migration inhibitory factor (glycosylation-inhibiting factor) - 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' - 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'gene' + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'macrophage migration inhibitory factor (glycosylation-inhibiting factor)' SubClassOf 'Major susceptibility factor in' some 'Systemic-onset juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_168943 Label: Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 - 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' SubClassOf 'group of disorders' + 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_179462 Label: coronin, actin binding protein, 1A - 'coronin, actin binding protein, 1A' SubClassOf 'gene' - 'coronin, actin binding protein, 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to CORO1A deficiency' + 'coronin, actin binding protein, 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'coronin, actin binding protein, 1A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coronin, actin binding protein, 1A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to CORO1A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_64739 Label: Ovarian hyperstimulation syndrome - 'Ovarian hyperstimulation syndrome' SubClassOf 'part_of' some 'Rare non-malformative uterine adnexal disease' - 'Ovarian hyperstimulation syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Ovarian hyperstimulation syndrome' SubClassOf 'disease' + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-malformative uterine adnexal disease' + 'Ovarian hyperstimulation syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168940 Label: Chronic eosinophilic leukemia - 'Chronic eosinophilic leukemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Chronic eosinophilic leukemia' SubClassOf 'disease' + 'Chronic eosinophilic leukemia' SubClassOf 'disease' + 'Chronic eosinophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_178338 Label: UV-sensitive syndrome - 'UV-sensitive syndrome' SubClassOf 'disease' - 'UV-sensitive syndrome' SubClassOf 'part_of' some 'Rare photodermatosis' - 'UV-sensitive syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'UV-sensitive syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'UV-sensitive syndrome' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'UV-sensitive syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'UV-sensitive syndrome' SubClassOf 'disease' + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'UV-sensitive syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'UV-sensitive syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'UV-sensitive syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_123221 Label: midline 1 - 'midline 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Opitz G/BBB syndrome' - 'midline 1' SubClassOf 'gene' + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked Opitz G/BBB syndrome' + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'midline 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119172 Label: calpain 3, (p94) - 'calpain 3, (p94)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2A' - 'calpain 3, (p94)' SubClassOf 'gene' + 'calpain 3, (p94)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2A' + 'calpain 3, (p94)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'calpain 3, (p94)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269573 Label: Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178333 Label: �land Islands eye disease - '�land Islands eye disease' SubClassOf 'part_of' some 'Retinal dystrophy' - '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '�land Islands eye disease' SubClassOf 'disease' - '�land Islands eye disease' SubClassOf 'has_inheritance' some 'x linked recessive' - '�land Islands eye disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '�land Islands eye disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '�land Islands eye disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '�land Islands eye disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + '�land Islands eye disease' SubClassOf 'disease' + '�land Islands eye disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_269570 Label: Genetic syndrome with a Dandy-Walker malformation as major feature - 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_212902 Label: interleukin 1 receptor antagonist - 'interleukin 1 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sterile multifocal osteomyelitis with periostitis and pustulosis' - 'interleukin 1 receptor antagonist' SubClassOf 'gene' + 'interleukin 1 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sterile multifocal osteomyelitis with periostitis and pustulosis' + 'interleukin 1 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 1 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_34587 Label: Glycogen storage disease due to LAMP-2 deficiency - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Lysosomal glycogen storage disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Glycogen storage disease with hypertrophic cardiomyopathy' - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease with hypertrophic cardiomyopathy' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_64754 Label: Nevus comedonicus syndrome - 'Nevus comedonicus syndrome' SubClassOf 'disease' - 'Nevus comedonicus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Nevus comedonicus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Nevus comedonicus syndrome' SubClassOf 'disease' + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Nevus comedonicus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' Class: http://www.orpha.net/ORDO/Orphanet_64753 Label: Spinocerebellar ataxia with axonal neuropathy type 2 - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'disease' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'disease' + 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168947 Label: Myeloid neoplasm associated with PDGFRA rearrangement - 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' - 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'disease' + 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRA rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64752 Label: Hereditary sensory and autonomic neuropathy type 5 - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'disease' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_64751 Label: Hereditary motor and sensory neuropathy type 5 - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'disease' - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_225404 Label: glycoprotein VI (platelet) - 'glycoprotein VI (platelet)' SubClassOf 'gene' - 'glycoprotein VI (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bleeding diathesis due to glycoprotein VI deficiency' + 'glycoprotein VI (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein VI (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein VI (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bleeding diathesis due to glycoprotein VI deficiency' Class: http://www.orpha.net/ORDO/Orphanet_64746 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'group of disorders' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_123219 Label: matrix Gla protein - 'matrix Gla protein' SubClassOf 'gene' - 'matrix Gla protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keutel syndrome' + 'matrix Gla protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.3"^^http://www.w3.org/2001/XMLSchema#string + 'matrix Gla protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'matrix Gla protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keutel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_64747 Label: X-linked Charcot-Marie-Tooth disease - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Charcot-Marie-Tooth disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_178320 Label: Acute lung injury - 'Acute lung injury' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Acute lung injury' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Acute lung injury' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lung injury' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "65.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute lung injury' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Acute lung injury' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64744 Label: Riedel thyroiditis - 'Riedel thyroiditis' SubClassOf 'disease' - 'Riedel thyroiditis' SubClassOf 'part_of' some 'Rare adult hypothyroidism' - 'Riedel thyroiditis' SubClassOf 'has_prevalence' some 'Unknown' + 'Riedel thyroiditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare adult hypothyroidism' + 'Riedel thyroiditis' SubClassOf 'disease' + 'Riedel thyroiditis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.06"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168956 Label: Hypereosinophilic syndrome - 'Hypereosinophilic syndrome' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Hypereosinophilic syndrome' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' - 'Hypereosinophilic syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hypereosinophilic syndrome' SubClassOf 'disease' + 'Hypereosinophilic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypereosinophilic syndrome' SubClassOf 'disease' + 'Hypereosinophilic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Hypereosinophilic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.027"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_64745 Label: Pruritic urticarial papules and plaques of pregnancy - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'disease' - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'part_of' some 'Rare urticaria' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf 'disease' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'Pruritic urticarial papules and plaques of pregnancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_123216 Label: mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase - 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MGAT2-CDG' - 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'gene' + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MGAT2-CDG' + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21"^^http://www.w3.org/2001/XMLSchema#string + 'mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269567 Label: Genetic syndrome with a cerebellar malformation as major feature - 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168950 Label: Myeloid neoplasm associated with PDGFRB rearrangement - 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'disease' - 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64748 Label: Dejerine-Sottas syndrome - 'Dejerine-Sottas syndrome' SubClassOf 'disease' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dejerine-Sottas syndrome' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dejerine-Sottas syndrome' SubClassOf 'disease' + 'Dejerine-Sottas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Dejerine-Sottas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dejerine-Sottas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_95491 Label: Congenital coronary artery aneurysm - 'Congenital coronary artery aneurysm' SubClassOf 'morphological anomaly' - 'Congenital coronary artery aneurysm' SubClassOf 'part_of' some 'Coronary artery congenital malformation' + 'Congenital coronary artery aneurysm' SubClassOf 'morphological anomaly' + 'Congenital coronary artery aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coronary artery congenital malformation' Class: http://www.orpha.net/ORDO/Orphanet_64749 Label: Charcot-Marie-Tooth disease type 4 - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'group of disorders' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'group of disorders' + 'Charcot-Marie-Tooth disease type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_123212 Label: membrane frizzled-related protein - 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nanophthalmia' - 'membrane frizzled-related protein' SubClassOf 'gene' - 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' + 'membrane frizzled-related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nanophthalmia' + 'membrane frizzled-related protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'membrane frizzled-related protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' Class: http://www.orpha.net/ORDO/Orphanet_168953 Label: Myeloid neoplasm associated with FGFR1 rearrangement - 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'part_of' some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' - 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'disease' + 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1' + 'Myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119185 Label: calcium-sensing receptor - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bartter syndrome with hypocalcemia' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 1' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' - 'calcium-sensing receptor' SubClassOf 'gene' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hypocalcemia' - 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal severe primary hyperparathyroidism' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Bartter syndrome with hypocalcemia' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial hypocalciuric hypercalcemia type 1' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autosomal dominant hypocalcemia' + 'calcium-sensing receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' + 'calcium-sensing receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Neonatal severe primary hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_179459 Label: bone morphogenetic protein 2 - 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' - 'bone morphogenetic protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'bone morphogenetic protein 2' SubClassOf 'gene' + 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' + 'bone morphogenetic protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' + 'bone morphogenetic protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95493 Label: Abnormal origin or aberrant course of coronary artery - 'Abnormal origin or aberrant course of coronary artery' SubClassOf 'group of disorders' + 'Abnormal origin or aberrant course of coronary artery' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269564 Label: Genetic syndrome with a central nervous system malformation as major feature - 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95494 Label: Combined pituitary hormone deficiencies, genetic forms - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'part_of' some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'disease' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_prevalence' some 'Unknown' - 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'disease' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_95495 Label: Disease associated with non-acquired combined pituitary hormone deficiency - 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95496 Label: Pituitary stalk interruption syndrome - 'Pituitary stalk interruption syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pituitary stalk interruption syndrome' SubClassOf 'morphological anomaly' - 'Pituitary stalk interruption syndrome' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' - 'Pituitary stalk interruption syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pituitary stalk interruption syndrome' SubClassOf 'morphological anomaly' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pituitary stalk interruption syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' + 'Pituitary stalk interruption syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269560 Label: Genetic cerebellar malformation - 'Genetic cerebellar malformation' SubClassOf 'group of disorders' + 'Genetic cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119182 Label: calsequestrin 2 (cardiac muscle) - 'calsequestrin 2 (cardiac muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calsequestrin 2 (cardiac muscle)' SubClassOf 'gene' + 'calsequestrin 2 (cardiac muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calsequestrin 2 (cardiac muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'calsequestrin 2 (cardiac muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95498 Label: Congenital anomaly of superior vena cava - 'Congenital anomaly of superior vena cava' SubClassOf 'group of disorders' + 'Congenital anomaly of superior vena cava' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95499 Label: Congenital anomaly of the inferior vena cava - 'Congenital anomaly of the inferior vena cava' SubClassOf 'group of disorders' + 'Congenital anomaly of the inferior vena cava' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_394137 Label: corticotropin releasing hormone - 'corticotropin releasing hormone' SubClassOf 'gene' - 'corticotropin releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'corticotropin releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q13"^^http://www.w3.org/2001/XMLSchema#string + 'corticotropin releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'corticotropin releasing hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_269523 Label: Syndrome with a cerebellar malformation as major feature - 'Syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a cerebellar malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399980 Label: Rare genetic male infertility - 'Rare genetic male infertility' SubClassOf 'group of disorders' + 'Rare genetic male infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269528 Label: Syndrome with microcephaly as major feature - 'Syndrome with microcephaly as major feature' SubClassOf 'group of disorders' + 'Syndrome with microcephaly as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254525 Label: Paternal 14q32.2 microdeletion syndrome - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' Class: http://www.orpha.net/ORDO/Orphanet_182104 Label: Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease - 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'group of disorders' + 'Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123095 Label: lamin B1 - 'lamin B1' SubClassOf 'gene' - 'lamin B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal dominant leukodystrophy' + 'lamin B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal dominant leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_399983 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182108 Label: Thoracic malformation - 'Thoracic malformation' SubClassOf 'group of disorders' + 'Thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123090 Label: lamin A/C - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B1' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Emery-Dreifuss muscular dystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' - 'lamin A/C' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal codominant severe lipodystrophic laminopathy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heart-hand syndrome, Slovenian type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type A lipodystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1B' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to LMNA mutation' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, K�bberling type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Werner syndrome' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laminopathy type Decaudain-Vigouroux' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, Dunnigan type' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeria-associated arthropathy' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'lamin A/C' SubClassOf 'gene' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'LMNA-related cardiocutaneous progeria syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B1' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Emery-Dreifuss muscular dystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal restrictive dermopathy' + 'lamin A/C' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal codominant severe lipodystrophic laminopathy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heart-hand syndrome, Slovenian type' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mandibuloacral dysplasia with type A lipodystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1B' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy due to LMNA mutation' + 'lamin A/C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Werner syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laminopathy type Decaudain-Vigouroux' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hutchinson-Gilford progeria syndrome' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, K�bberling type' + 'lamin A/C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy, Dunnigan type' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeria-associated arthropathy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'LMNA-related cardiocutaneous progeria syndrome' Class: http://www.orpha.net/ORDO/Orphanet_182111 Label: Respiratory malformation - 'Respiratory malformation' SubClassOf 'group of disorders' + 'Respiratory malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254516 Label: Motor developmental delay due to 14q32.2 paternally expressed gene defect - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'malformation syndrome' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'part_of' some 'Syndromic obesity' - 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_280122 Label: sequestosome 1 - 'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'sequestosome 1' SubClassOf 'gene' + 'sequestosome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string + 'sequestosome 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_254519 Label: Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_117903 Label: phosphomannomutase 2 - 'phosphomannomutase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'PMM2-CDG' - 'phosphomannomutase 2' SubClassOf 'gene' + 'phosphomannomutase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'phosphomannomutase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphomannomutase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'PMM2-CDG' Class: http://www.orpha.net/ORDO/Orphanet_220737 Label: interleukin 31 receptor A - 'interleukin 31 receptor A' SubClassOf 'gene' - 'interleukin 31 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'interleukin 31 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 31 receptor A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 31 receptor A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_298500 Label: atonal homolog 7 (Drosophila) - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital blindness due to retinal non-attachment' - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' - 'atonal homolog 7 (Drosophila)' SubClassOf 'gene' - 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract microcornea with corneal opacity' + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital blindness due to retinal non-attachment' + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' + 'atonal homolog 7 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'atonal homolog 7 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract microcornea with corneal opacity' + 'atonal homolog 7 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269531 Label: Other syndrome with a central nervous system malformation as major feature - 'Other syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Other syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182101 Label: Idiopathic eosinophilic pneumonia - 'Idiopathic eosinophilic pneumonia' SubClassOf 'group of disorders' + 'Idiopathic eosinophilic pneumonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254509 Label: Iatrogenic botulism - 'Iatrogenic botulism' SubClassOf 'part_of' some 'Botulism' - 'Iatrogenic botulism' SubClassOf 'clinical subtype' - 'Iatrogenic botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Iatrogenic botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Iatrogenic botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Iatrogenic botulism' SubClassOf 'clinical subtype' + 'Iatrogenic botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Iatrogenic botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' Class: http://www.orpha.net/ORDO/Orphanet_220744 Label: collagen and calcium binding EGF domains 1 - 'collagen and calcium binding EGF domains 1' SubClassOf 'gene' - 'collagen and calcium binding EGF domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' + 'collagen and calcium binding EGF domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen and calcium binding EGF domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' + 'collagen and calcium binding EGF domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401212 Label: ubiquitin specific peptidase 9, X-linked - 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'gene' + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked non-syndromic intellectual disability' + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin specific peptidase 9, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269546 Label: Syndrome with a Dandy-Walker malformation as major feature - 'Syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269544 Label: immunoglobulin heavy variable 3-21 - 'immunoglobulin heavy variable 3-21' SubClassOf 'Modifying somatic mutation in' some 'B-cell chronic lymphocytic leukemia' - 'immunoglobulin heavy variable 3-21' SubClassOf 'gene' + 'immunoglobulin heavy variable 3-21' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy variable 3-21' SubClassOf 'Modifying somatic mutation in' some 'B-cell chronic lymphocytic leukemia' + 'immunoglobulin heavy variable 3-21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123076 Label: lectin, mannose-binding, 1 - 'lectin, mannose-binding, 1' SubClassOf 'gene' - 'lectin, mannose-binding, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'lectin, mannose-binding, 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined deficiency of factor V and factor VIII' + 'lectin, mannose-binding, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lectin, mannose-binding, 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_182127 Label: Extragonadal germinoma - 'Extragonadal germinoma' SubClassOf 'disease' - 'Extragonadal germinoma' SubClassOf 'part_of' some 'Extragonadal germ cell tumor' + 'Extragonadal germinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal germ cell tumor' + 'Extragonadal germinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123070 Label: lipopolysaccharide-induced TNF factor - 'lipopolysaccharide-induced TNF factor' SubClassOf 'gene' - 'lipopolysaccharide-induced TNF factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1C' + 'lipopolysaccharide-induced TNF factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3-p12"^^http://www.w3.org/2001/XMLSchema#string + 'lipopolysaccharide-induced TNF factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1C' + 'lipopolysaccharide-induced TNF factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_232288 Label: Alpha-thalassemia-related diseases - 'Alpha-thalassemia-related diseases' SubClassOf 'group of disorders' + 'Alpha-thalassemia-related diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182130 Label: Tumor of endocrine glands - 'Tumor of endocrine glands' SubClassOf 'group of disorders' + 'Tumor of endocrine glands' SubClassOf 'group of disorders' + 'Tumor of endocrine glands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Tumor of endocrine glands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "64.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_64692 Label: Oroya fever - 'Oroya fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Oroya fever' SubClassOf 'disease' + 'Oroya fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Oroya fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64694 Label: Trench fever - 'Trench fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Trench fever' SubClassOf 'disease' + 'Trench fever' SubClassOf 'disease' + 'Trench fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_280142 Label: Severe combined immunodeficiency due to LCK deficiency - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254534 Label: Maternal 14q32.2 hypermethylation syndrome - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'etiological subtype' - 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'etiological subtype' + 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_269557 Label: Genetic posterior fossa malformation - 'Genetic posterior fossa malformation' SubClassOf 'group of disorders' + 'Genetic posterior fossa malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_240760 Label: Nijmegen breakage syndrome-like disorder - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'malformation syndrome' - 'Nijmegen breakage syndrome-like disorder' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' + 'Nijmegen breakage syndrome-like disorder' SubClassOf 'malformation syndrome' + 'Nijmegen breakage syndrome-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_254531 Label: Paternal 14q32.2 hypomethylation syndrome - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'etiological subtype' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'part_of' some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'etiological subtype' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269553 Label: Genetic cerebral malformation - 'Genetic cerebral malformation' SubClassOf 'group of disorders' + 'Genetic cerebral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123085 Label: limb development membrane protein 1 - 'limb development membrane protein 1' SubClassOf 'gene' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, unilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' - 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, bilateral' + 'limb development membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laurin-Sandrow syndrome' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Triphalangeal thumb - polysyndactyly syndrome' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly type 4' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic tibiae - postaxial polydactyly' + 'limb development membrane protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, unilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral' + 'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adactyly of foot, bilateral' Class: http://www.orpha.net/ORDO/Orphanet_182117 Label: Non-syndromic urogenital tract malformation of female - 'Non-syndromic urogenital tract malformation of female' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of female' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269550 Label: Genetic non-syndromic central nervous system malformation - 'Genetic non-syndromic central nervous system malformation' SubClassOf 'group of disorders' + 'Genetic non-syndromic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182114 Label: Rare urogenital tumor - 'Rare urogenital tumor' SubClassOf 'group of disorders' + 'Rare urogenital tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare urogenital tumor' SubClassOf 'group of disorders' + 'Rare urogenital tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_182124 Label: Non-syndromic urogenital tract malformation of male and female - 'Non-syndromic urogenital tract malformation of male and female' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of male and female' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182121 Label: Non-syndromic urogenital tract malformation of male - 'Non-syndromic urogenital tract malformation of male' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation of male' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280133 Label: Complement component 3 deficiency - 'Complement component 3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Complement component 3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Complement component 3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Complement component 3 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' - 'Complement component 3 deficiency' SubClassOf 'disease' + 'Complement component 3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Complement component 3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Complement component 3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Complement component 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Complement component 3 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_64686 Label: Tolosa-Hunt syndrome - 'Tolosa-Hunt syndrome' SubClassOf 'disease' - 'Tolosa-Hunt syndrome' SubClassOf 'part_of' some 'Rare strabismus and restriction syndrome' + 'Tolosa-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare strabismus and restriction syndrome' + 'Tolosa-Hunt syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254528 Label: Maternal 14q32.2 microdeletion syndrome - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'etiological subtype' + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123053 Label: LIM homeobox 3 - 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' - 'LIM homeobox 3' SubClassOf 'gene' - 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'LIM homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' + 'LIM homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_1580 Label: Distal monosomy 10p - 'Distal monosomy 10p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - 'Distal monosomy 10p' SubClassOf 'malformation syndrome' - 'Distal monosomy 10p' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 10p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 10p' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Distal monosomy 10p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal monosomy 10p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + 'Distal monosomy 10p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal monosomy 10p' SubClassOf 'malformation syndrome' + 'Distal monosomy 10p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal monosomy 10p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1581 Label: Non-distal monosomy 10q - 'Non-distal monosomy 10q' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 10' - 'Non-distal monosomy 10q' SubClassOf 'malformation syndrome' + 'Non-distal monosomy 10q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 10' + 'Non-distal monosomy 10q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123055 Label: leukemia inhibitory factor receptor alpha - 'leukemia inhibitory factor receptor alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'St�ve-Wiedemann syndrome' - 'leukemia inhibitory factor receptor alpha' SubClassOf 'gene' + 'leukemia inhibitory factor receptor alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13-p12"^^http://www.w3.org/2001/XMLSchema#string + 'leukemia inhibitory factor receptor alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leukemia inhibitory factor receptor alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'St�ve-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97555 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'histopathological subtype' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_97556 Label: Congenital and infantile nephrotic syndrome - 'Congenital and infantile nephrotic syndrome' SubClassOf 'group of disorders' + 'Congenital and infantile nephrotic syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123058 Label: ligase IV, DNA, ATP-dependent - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'gene' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' - 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' + 'ligase IV, DNA, ATP-dependent' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ligase IV, DNA, ATP-dependent' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1587 Label: Monosomy 13q14 - 'Monosomy 13q14' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Syndromic epicanthus' - 'Monosomy 13q14' SubClassOf 'malformation syndrome' - 'Monosomy 13q14' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 13' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic epicanthus' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Monosomy 13q14' SubClassOf 'malformation syndrome' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 13q14' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 13' Class: http://www.orpha.net/ORDO/Orphanet_117944 Label: P450 (cytochrome) oxidoreductase - 'P450 (cytochrome) oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' - 'P450 (cytochrome) oxidoreductase' SubClassOf 'gene' + 'P450 (cytochrome) oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'P450 (cytochrome) oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' + 'P450 (cytochrome) oxidoreductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117948 Label: POU class 1 homeobox 1 - 'POU class 1 homeobox 1' SubClassOf 'gene' - 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' - 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'POU class 1 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'POU class 1 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'POU class 1 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_232223 Label: NK3 homeobox 2 - 'NK3 homeobox 2' SubClassOf 'gene' - 'NK3 homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylo-megaepiphyseal-metaphyseal dysplasia' + 'NK3 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'NK3 homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NK3 homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylo-megaepiphyseal-metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_97548 Label: Ivemark syndrome - 'Ivemark syndrome' SubClassOf 'malformation syndrome' - 'Ivemark syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ivemark syndrome' SubClassOf 'part_of' some 'Heterotaxia' + 'Ivemark syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' + 'Ivemark syndrome' SubClassOf 'malformation syndrome' + 'Ivemark syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_117942 Label: protein-O-mannosyltransferase 2 - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'protein-O-mannosyltransferase 2' SubClassOf 'gene' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2N' + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein-O-mannosyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'protein-O-mannosyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2N' Class: http://www.orpha.net/ORDO/Orphanet_232228 Label: transmembrane and coiled-coil domains 1 - 'transmembrane and coiled-coil domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-thoracic dysplasia' - 'transmembrane and coiled-coil domains 1' SubClassOf 'gene' + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q25"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane and coiled-coil domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cerebro-facio-thoracic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1590 Label: Distal monosomy 13q - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 13' - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Distal monosomy 13q' SubClassOf 'malformation syndrome' - 'Distal monosomy 13q' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Distal monosomy 13q' SubClassOf 'malformation syndrome' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 13' + 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' Class: http://www.orpha.net/ORDO/Orphanet_97563 Label: Pauci-immune glomerulonephritis with ANCA - 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'part_of' some 'Pauci-immune glomerulonephritis' - 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'clinical subtype' + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pauci-immune glomerulonephritis' + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_123063 Label: lipase A, lysosomal acid, cholesterol esterase - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'gene' - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolman disease' - 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesteryl ester storage disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wolman disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2-q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesteryl ester storage disease' + 'lipase A, lysosomal acid, cholesterol esterase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97560 Label: Idiopathic membranous glomerulonephritis - 'Idiopathic membranous glomerulonephritis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Idiopathic membranous glomerulonephritis' SubClassOf 'disease' + 'Idiopathic membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Idiopathic membranous glomerulonephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97566 Label: Non-amyloid fibrillary glomerulopathy - 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'disease' - 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' + 'Non-amyloid fibrillary glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunotactoid or fibrillary glomerulopathy' + 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97567 Label: Immunotactoid glomerulopathy - 'Immunotactoid glomerulopathy' SubClassOf 'disease' - 'Immunotactoid glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' + 'Immunotactoid glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunotactoid or fibrillary glomerulopathy' + 'Immunotactoid glomerulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123067 Label: lipase, member I - 'lipase, member I' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 4' - 'lipase, member I' SubClassOf 'gene' + 'lipase, member I' SubClassOf 'Major susceptibility factor in' some 'Hyperlipoproteinemia type 4' + 'lipase, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase, member I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97564 Label: Pauci-immune glomerulonephritis without ANCA - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'clinical subtype' - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'part_of' some 'Pauci-immune glomerulonephritis' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'clinical subtype' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pauci-immune glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_1598 Label: Monosomy 18p - 'Monosomy 18p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 18' - 'Monosomy 18p' SubClassOf 'disease' - 'Monosomy 18p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 18p' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Monosomy 18p' SubClassOf 'has_inheritance' some 'sporadic' - 'Monosomy 18p' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Monosomy 18p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Monosomy 18p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 18p' SubClassOf 'disease' + 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 18' + 'Monosomy 18p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 18p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1596 Label: Distal monosomy 15q - 'Distal monosomy 15q' SubClassOf 'malformation syndrome' - 'Distal monosomy 15q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 15' + 'Distal monosomy 15q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 15' + 'Distal monosomy 15q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1597 Label: Distal monosomy 17q - 'Distal monosomy 17q' SubClassOf 'malformation syndrome' - 'Distal monosomy 17q' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal monosomy 17q' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - 'Distal monosomy 17q' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal monosomy 17q' SubClassOf 'has_prevalence' some 'Unknown' + 'Distal monosomy 17q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + 'Distal monosomy 17q' SubClassOf 'malformation syndrome' + 'Distal monosomy 17q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Distal monosomy 17q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal monosomy 17q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_117935 Label: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2O' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'gene' - 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2O' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Muscle-eye-brain disease' Class: http://www.orpha.net/ORDO/Orphanet_117939 Label: protein-O-mannosyltransferase 1 - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2K' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'protein-O-mannosyltransferase 1' SubClassOf 'gene' - 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2K' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'protein-O-mannosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy without intellectual disability' + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannosyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280151 Label: LCK proto-oncogene, Src family tyrosine kinase - 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LCK deficiency' - 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'gene' + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'LCK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LCK deficiency' Class: http://www.orpha.net/ORDO/Orphanet_213048 Label: protein kinase, interferon-inducible double stranded RNA dependent activator - 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystonia 16' - 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'gene' + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase, interferon-inducible double stranded RNA dependent activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dystonia 16' Class: http://www.orpha.net/ORDO/Orphanet_117931 Label: polymerase (DNA directed), eta - 'polymerase (DNA directed), eta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum variant' - 'polymerase (DNA directed), eta' SubClassOf 'gene' + 'polymerase (DNA directed), eta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), eta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Xeroderma pigmentosum variant' + 'polymerase (DNA directed), eta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123060 Label: LIM domain kinase 1 - 'LIM domain kinase 1' SubClassOf 'gene' - 'LIM domain kinase 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'LIM domain kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM domain kinase 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'LIM domain kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123034 Label: leptin - 'leptin' SubClassOf 'gene' - 'leptin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to congenital leptin deficiency' + 'leptin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'leptin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to congenital leptin deficiency' + 'leptin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123031 Label: LEM domain containing 3 - 'LEM domain containing 3' SubClassOf 'gene' - 'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated osteopoikilosis' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Buschke-Ollendorff syndrome' - 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melorheostosis with osteopoikilosis' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome' + 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated osteopoikilosis' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Buschke-Ollendorff syndrome' + 'LEM domain containing 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14"^^http://www.w3.org/2001/XMLSchema#string + 'LEM domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melorheostosis with osteopoikilosis' Class: http://www.orpha.net/ORDO/Orphanet_269505 Label: Congenital communicating hydrocephalus - 'Congenital communicating hydrocephalus' SubClassOf 'part_of' some 'Congenital hydrocephalus' - 'Congenital communicating hydrocephalus' SubClassOf 'clinical subtype' - 'Congenital communicating hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital communicating hydrocephalus' SubClassOf 'clinical subtype' + 'Congenital communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_138233 Label: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'gene' - 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial trifunctional protein deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_35807 Label: Malignant germ cell tumor of ovary - 'Malignant germ cell tumor of ovary' SubClassOf 'group of disorders' - 'Malignant germ cell tumor of ovary' SubClassOf 'has_prevalence' some 'Unknown' - 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'group of disorders' + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Malignant germ cell tumor of ovary' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant germ cell tumor of ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_35808 Label: Malignant ovarian sex cord-stromal tumor - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_prevalence' some 'Unknown' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'group of disorders' - 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'group of disorders' + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malignant ovarian sex cord-stromal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_123038 Label: leptin receptor - 'leptin receptor' SubClassOf 'gene' - 'leptin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to leptin receptor gene deficiency' + 'leptin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to leptin receptor gene deficiency' + 'leptin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31"^^http://www.w3.org/2001/XMLSchema#string + 'leptin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280183 Label: Methylmalonic aciduria due to transcobalamin receptor defect - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anomaly' + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_117925 Label: polymerase (DNA directed), gamma - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' - 'polymerase (DNA directed), gamma' SubClassOf 'gene' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with epilepsy' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive mitochondrial ataxia syndrome' - 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpers syndrome' + 'polymerase (DNA directed), gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia with epilepsy' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive mitochondrial ataxia syndrome' + 'polymerase (DNA directed), gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpers syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233019 Label: serpin peptidase inhibitor, clade B (ovalbumin), member 6 - 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.2"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_323398 Label: coiled-coil domain containing 114 - 'coiled-coil domain containing 114' SubClassOf 'gene' - 'coiled-coil domain containing 114' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 114' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117927 Label: polymerase (DNA directed), gamma 2, accessory subunit - 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'gene' - 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), gamma 2, accessory subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant progressive external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_233016 Label: chromosome 2 open reading frame 71 - 'chromosome 2 open reading frame 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'chromosome 2 open reading frame 71' SubClassOf 'gene' + 'chromosome 2 open reading frame 71' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'chromosome 2 open reading frame 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 2 open reading frame 71' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_232248 Label: IQ motif and Sec7 domain 2 - 'IQ motif and Sec7 domain 2' SubClassOf 'gene' - 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' - 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'IQ motif and Sec7 domain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' + 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_232245 Label: itchy E3 ubiquitin protein ligase - 'itchy E3 ubiquitin protein ligase' SubClassOf 'gene' - 'itchy E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic multisystem autoimmune disease due to Itch deficiency' + 'itchy E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'itchy E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'itchy E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic multisystem autoimmune disease due to Itch deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123046 Label: luteinizing hormone beta polypeptide - 'luteinizing hormone beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to LHB deficiency' - 'luteinizing hormone beta polypeptide' SubClassOf 'gene' + 'luteinizing hormone beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to LHB deficiency' + 'luteinizing hormone beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'luteinizing hormone beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399998 Label: Male infertility due to obstructive azoospermia of genetic origin - 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'group of disorders' + 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269510 Label: Congenital non-communicating hydrocephalus - 'Congenital non-communicating hydrocephalus' SubClassOf 'clinical subtype' - 'Congenital non-communicating hydrocephalus' SubClassOf 'part_of' some 'Congenital hydrocephalus' - 'Congenital non-communicating hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital non-communicating hydrocephalus' SubClassOf 'clinical subtype' + 'Congenital non-communicating hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_123042 Label: leucine-rich, glioma inactivated 1 - 'leucine-rich, glioma inactivated 1' SubClassOf 'gene' - 'leucine-rich, glioma inactivated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant epilepsy with auditory features' + 'leucine-rich, glioma inactivated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant epilepsy with auditory features' + 'leucine-rich, glioma inactivated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich, glioma inactivated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_399994 Label: Rare male infertility due to adrenal disorder of genetic origin - 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123048 Label: luteinizing hormone/choriogonadotropin receptor - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to partial LH resistance' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial male-limited precocious puberty' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leydig cell hypoplasia due to complete LH resistance' - 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'gene' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leydig cell hypoplasia due to complete LH resistance' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial male-limited precocious puberty' + 'luteinizing hormone/choriogonadotropin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Leydig cell hypoplasia due to partial LH resistance' Class: http://www.orpha.net/ORDO/Orphanet_117908 Label: peripheral myelin protein 22 - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' - 'peripheral myelin protein 22' SubClassOf 'Major susceptibility factor in' some 'Acute inflammatory demyelinating polyradiculoneuropathy' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1E' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' - 'peripheral myelin protein 22' SubClassOf 'Role in the phenotype of' some 'Hereditary neuropathy with liability to pressure palsies' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1A' - 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neuropathy with liability to pressure palsies' - 'peripheral myelin protein 22' SubClassOf 'gene' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Roussy-L�vy syndrome' + 'peripheral myelin protein 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p12"^^http://www.w3.org/2001/XMLSchema#string + 'peripheral myelin protein 22' SubClassOf 'Major susceptibility factor in' some 'Acute inflammatory demyelinating polyradiculoneuropathy' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1E' + 'peripheral myelin protein 22' SubClassOf 'Role in the phenotype of' some 'Hereditary neuropathy with liability to pressure palsies' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dejerine-Sottas syndrome' + 'peripheral myelin protein 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1A' + 'peripheral myelin protein 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neuropathy with liability to pressure palsies' Class: http://www.orpha.net/ORDO/Orphanet_232232 Label: myocyte enhancer factor 2C - 'myocyte enhancer factor 2C' SubClassOf 'Role in the phenotype of' some '5q14.3 microdeletion syndrome' - 'myocyte enhancer factor 2C' SubClassOf 'gene' + 'myocyte enhancer factor 2C' SubClassOf 'Role in the phenotype of' some '5q14.3 microdeletion syndrome' + 'myocyte enhancer factor 2C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q14.3"^^http://www.w3.org/2001/XMLSchema#string + 'myocyte enhancer factor 2C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117916 Label: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'gene' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' - 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional mismatch repair deficiency syndrome' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-polyposis Turcot syndrome' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PMS2 postmeiotic segregation increased 2 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117913 Label: PMS1 postmeiotic segregation increased 1 (S. cerevisiae) - 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'gene' + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PMS1 postmeiotic segregation increased 1 (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31-q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_299619 Label: chromosome 5 open reading frame 42 - 'chromosome 5 open reading frame 42' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' - 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'chromosome 5 open reading frame 42' SubClassOf 'gene' - 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'chromosome 5 open reading frame 42' SubClassOf 'Major susceptibility factor in' some 'Monomelic amyotrophy' + 'chromosome 5 open reading frame 42' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'chromosome 5 open reading frame 42' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73247 Label: Eosinophilic esophagitis - 'Eosinophilic esophagitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Eosinophilic esophagitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Eosinophilic esophagitis' SubClassOf 'disease' - 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Eosinophilic esophagitis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf 'disease' + 'Eosinophilic esophagitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Eosinophilic esophagitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary eosinophilic gastrointestinal disease' + 'Eosinophilic esophagitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "55.85"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93930 Label: Bladder exstrophy - 'Bladder exstrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Bladder exstrophy' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Bladder exstrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bladder exstrophy' SubClassOf 'clinical subtype' + 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bladder exstrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Bladder exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Bladder exstrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139145 Label: B-cell CLL/lymphoma 11A (zinc finger protein) - 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'Major susceptibility factor in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'gene' + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf 'Major susceptibility factor in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell CLL/lymphoma 11A (zinc finger protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93939 Label: Laryngo-tracheo-esophageal cleft type 2 - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1538 Label: Craniosynostosis - Dandy-Walker malformation - hydrocephalus - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'malformation syndrome' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Familial scaphocephaly syndrome' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial scaphocephaly syndrome' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'malformation syndrome' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_209041 Label: Qualitative or quantitative defects of desmin - 'Qualitative or quantitative defects of desmin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of desmin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229801 Label: kinase insert domain receptor (a type III receptor tyrosine kinase) - 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'gene' - 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'kinase insert domain receptor (a type III receptor tyrosine kinase)' SubClassOf 'Major susceptibility factor in' some 'Familial capillary hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_93937 Label: Terminal transverse defects of arm - 'Terminal transverse defects of arm' SubClassOf 'part_of' some 'Amniotic bands' - 'Terminal transverse defects of arm' SubClassOf 'morphological anomaly' + 'Terminal transverse defects of arm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amniotic bands' + 'Terminal transverse defects of arm' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93938 Label: Laryngo-tracheo-esophageal cleft type 1 - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209047 Label: Qualitative or quantitative defects of filamin C - 'Qualitative or quantitative defects of filamin C' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of filamin C' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209044 Label: Qualitative or quantitative defects of alphaB-cristallin - 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_292693 Label: KiSS-1 metastasis-suppressor - 'KiSS-1 metastasis-suppressor' SubClassOf 'gene' - 'KiSS-1 metastasis-suppressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KiSS-1 metastasis-suppressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_159308 Label: coiled-coil domain containing 50 - 'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'coiled-coil domain containing 50' SubClassOf 'gene' + 'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'coiled-coil domain containing 50' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 50' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1544 Label: Benign focal seizures of adolescence - 'Benign focal seizures of adolescence' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'Benign focal seizures of adolescence' SubClassOf 'disease' + 'Benign focal seizures of adolescence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' + 'Benign focal seizures of adolescence' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122009 Label: galactose-1-phosphate uridylyltransferase - 'galactose-1-phosphate uridylyltransferase' SubClassOf 'gene' - 'galactose-1-phosphate uridylyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic galactosemia' + 'galactose-1-phosphate uridylyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic galactosemia' + 'galactose-1-phosphate uridylyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'galactose-1-phosphate uridylyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1541 Label: Craniosynostosis, Boston type - 'Craniosynostosis, Boston type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis, Boston type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis, Boston type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis, Boston type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis, Boston type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis, Boston type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis, Boston type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis, Boston type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Boston type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_124149 Label: phosphodiesterase 6B, cGMP-specific, rod, beta - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'gene' - 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'phosphodiesterase 6B, cGMP-specific, rod, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_122006 Label: polypeptide N-acetylgalactosaminyltransferase 3 - 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf 'gene' - 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial tumoral calcinosis' + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial tumoral calcinosis' + 'polypeptide N-acetylgalactosaminyltransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24-q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1548 Label: Cryptorchidism - arachnodactyly - intellectual disability - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'malformation syndrome' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'malformation syndrome' + 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_268357 Label: Neural tube closure defect - 'Neural tube closure defect' SubClassOf 'group of disorders' + 'Neural tube closure defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159303 Label: transmembrane channel-like 6 - 'transmembrane channel-like 6' SubClassOf 'gene' - 'transmembrane channel-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' + 'transmembrane channel-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane channel-like 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane channel-like 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermodysplasia verruciformis' Class: http://www.orpha.net/ORDO/Orphanet_1547 Label: Cryptomicrotia - brachydactyly - excess fingertip arch - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'malformation syndrome' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'malformation syndrome' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1546 Label: Cryptococcosis - 'Cryptococcosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cryptococcosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryptococcosis' SubClassOf 'disease' - 'Cryptococcosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptococcosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptococcosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptococcosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptococcosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cryptococcosis' SubClassOf 'disease' + 'Cryptococcosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2157 Label: Histidinemia - 'Histidinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Histidinemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Histidinemia' SubClassOf 'part_of' some 'Disorder of histidine metabolism' - 'Histidinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Histidinemia' SubClassOf 'disease' + 'Histidinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of histidine metabolism' + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Histidinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Histidinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Histidinemia' SubClassOf 'disease' + 'Histidinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Histidinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1545 Label: Crisponi syndrome - 'Crisponi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Crisponi syndrome' SubClassOf 'part_of' some 'Cold-induced sweating syndrome-hyperthermia spectrum' - 'Crisponi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Crisponi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Crisponi syndrome' SubClassOf 'malformation syndrome' + 'Crisponi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Crisponi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Crisponi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Crisponi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Crisponi syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122002 Label: galactosamine (N-acetyl)-6-sulfatase - 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'gene' - 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4A' + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 4A' + 'galactosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2155 Label: Hirschsprung disease - deafness - polydactyly - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - deafness - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_139142 Label: aldo-keto reductase family 1, member D1 - 'aldo-keto reductase family 1, member D1' SubClassOf 'gene' - 'aldo-keto reductase family 1, member D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 2' + 'aldo-keto reductase family 1, member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32-q33"^^http://www.w3.org/2001/XMLSchema#string + 'aldo-keto reductase family 1, member D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 2' + 'aldo-keto reductase family 1, member D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2156 Label: Hirsutism - skeletal dysplasia - intellectual disability - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hirsutism - skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124142 Label: programmed cell death 10 - 'programmed cell death 10' SubClassOf 'gene' - 'programmed cell death 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' + 'programmed cell death 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'programmed cell death 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'programmed cell death 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral cavernous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2153 Label: Hirschsprung disease - nail hypoplasia - dysmorphism - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_73256 Label: Central neurocytoma - 'Central neurocytoma' SubClassOf 'disease' - 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Central neurocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Central neurocytoma' SubClassOf 'part_of' some 'Neuronal tumor' - 'Central neurocytoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Central neurocytoma' SubClassOf 'disease' + 'Central neurocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central neurocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuronal tumor' + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Central neurocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_299622 Label: rogdi homolog (Drosophila) - 'rogdi homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amelo-cerebro-hypohidrotic syndrome' - 'rogdi homolog (Drosophila)' SubClassOf 'gene' + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'rogdi homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Amelo-cerebro-hypohidrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1540 Label: Jackson-Weiss syndrome - 'Jackson-Weiss syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jackson-Weiss syndrome' SubClassOf 'malformation syndrome' - 'Jackson-Weiss syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Jackson-Weiss syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Jackson-Weiss syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Jackson-Weiss syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Jackson-Weiss syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Jackson-Weiss syndrome' SubClassOf 'malformation syndrome' + 'Jackson-Weiss syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Jackson-Weiss syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2151 Label: Hirschsprung disease - ganglioneuroblastoma - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2152 Label: Mowat-Wilson syndrome - 'Mowat-Wilson syndrome' SubClassOf 'malformation syndrome' - 'Mowat-Wilson syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Mowat-Wilson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mowat-Wilson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Mowat-Wilson syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf 'malformation syndrome' + 'Mowat-Wilson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mowat-Wilson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Mowat-Wilson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299625 Label: methylthioadenosine phosphorylase - 'methylthioadenosine phosphorylase' SubClassOf 'gene' - 'methylthioadenosine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphyseal medullary stenosis - bone malignancy' + 'methylthioadenosine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'methylthioadenosine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diaphyseal medullary stenosis - bone malignancy' + 'methylthioadenosine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_124146 Label: phosphodiesterase 6A, cGMP-specific, rod, alpha - 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'gene' + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2-q34"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 6A, cGMP-specific, rod, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2150 Label: Hirschsprung disease - type D brachydactyly - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'malformation syndrome' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Hirschsprung disease - type D brachydactyly' SubClassOf 'malformation syndrome' + 'Hirschsprung disease - type D brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hirschsprung disease - type D brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93921 Label: Neurofibromatosis type 3 - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Neurofibromatosis type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neurofibromatosis type 3' SubClassOf 'disease' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Neurofibromatosis type 3' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis type 3' SubClassOf 'disease' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Neurofibromatosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280190 Label: CD320 molecule - 'CD320 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic aciduria due to transcobalamin receptor defect' - 'CD320 molecule' SubClassOf 'gene' + 'CD320 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic aciduria due to transcobalamin receptor defect' + 'CD320 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD320 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217340 Label: 17q21.31 microduplication syndrome - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '17q21.31 microduplication syndrome' SubClassOf 'malformation syndrome' - '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '17q21.31 microduplication syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - '17q21.31 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17q21.31 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + '17q21.31 microduplication syndrome' SubClassOf 'malformation syndrome' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17q21.31 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17q21.31 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_42642 Label: Marshall syndrome with periodic fever - 'Marshall syndrome with periodic fever' SubClassOf 'part_of' some 'Unexplained periodic fever syndrome' - 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Marshall syndrome with periodic fever' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Marshall syndrome with periodic fever' SubClassOf 'disease' - 'Marshall syndrome with periodic fever' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Marshall syndrome with periodic fever' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Marshall syndrome with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unexplained periodic fever syndrome' + 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marshall syndrome with periodic fever' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Marshall syndrome with periodic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Marshall syndrome with periodic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209050 Label: Qualitative or quantitative defects of protein ZASP - 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93928 Label: Epispadias - 'Epispadias' SubClassOf 'clinical subtype' - 'Epispadias' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Epispadias' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Epispadias' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Epispadias' SubClassOf 'clinical subtype' + 'Epispadias' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Epispadias' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Epispadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Epispadias' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_1549 Label: Cryptosporidiosis - 'Cryptosporidiosis' SubClassOf 'disease' - 'Cryptosporidiosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptosporidiosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cryptosporidiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryptosporidiosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptosporidiosis' SubClassOf 'disease' + 'Cryptosporidiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cryptosporidiosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptosporidiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cryptosporidiosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93929 Label: Cloacal exstrophy - 'Cloacal exstrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cloacal exstrophy' SubClassOf 'part_of' some 'Exstrophy-epispadias complex' - 'Cloacal exstrophy' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cloacal exstrophy' SubClassOf 'clinical subtype' - 'Cloacal exstrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cloacal exstrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cloacal exstrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf 'clinical subtype' + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.54"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Exstrophy-epispadias complex' + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_209053 Label: Qualitative or quantitative defects of titin - 'Qualitative or quantitative defects of titin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of titin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_361188 Label: ankyrin repeat and sterile alpha motif domain containing 6 - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'gene' - 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.1"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin repeat and sterile alpha motif domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_93924 Label: Lobar holoprosencephaly - 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Lobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Lobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Lobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Lobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Lobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Lobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_93925 Label: Alobar holoprosencephaly - 'Alobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Alobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Alobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Alobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Alobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Alobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Alobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_209056 Label: Qualitative or quantitative defects of telethonin - 'Qualitative or quantitative defects of telethonin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of telethonin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93926 Label: Midline interhemispheric variant of holoprosencephaly - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'clinical subtype' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280195 Label: Septopreoptic holoprosencephaly - 'Septopreoptic holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Septopreoptic holoprosencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Septopreoptic holoprosencephaly' SubClassOf 'clinical subtype' - 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Septopreoptic holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Septopreoptic holoprosencephaly' SubClassOf 'clinical subtype' + 'Septopreoptic holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73260 Label: Paracoccidioidomycosis - 'Paracoccidioidomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paracoccidioidomycosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Paracoccidioidomycosis' SubClassOf 'disease' - 'Paracoccidioidomycosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Paracoccidioidomycosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Paracoccidioidomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Paracoccidioidomycosis' SubClassOf 'disease' + 'Paracoccidioidomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paracoccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_1553 Label: Curry-Jones syndrome - 'Curry-Jones syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Curry-Jones syndrome' SubClassOf 'malformation syndrome' - 'Curry-Jones syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Curry-Jones syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Curry-Jones syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Curry-Jones syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Curry-Jones syndrome' SubClassOf 'malformation syndrome' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Curry-Jones syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_292698 Label: retinoblastoma binding protein 8 - 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' - 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jawad syndrome' - 'retinoblastoma binding protein 8' SubClassOf 'gene' + 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'retinoblastoma binding protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoblastoma binding protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoblastoma binding protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jawad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1552 Label: Currarino triad - 'Currarino triad' SubClassOf 'has_inheritance' some 'sporadic' - 'Currarino triad' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Currarino triad' SubClassOf 'malformation syndrome' - 'Currarino triad' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Currarino triad' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Currarino triad' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Currarino triad' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Currarino triad' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Currarino triad' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Currarino triad' SubClassOf 'malformation syndrome' + 'Currarino triad' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Currarino triad' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Currarino triad' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_209059 Label: Qualitative or quantitative defects of alpha-actin - 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_320317 Label: Cleft lip/palate - ectodermal dysplasia - 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'group of disorders' + 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1555 Label: Cutis gyrata - acanthosis nigricans - craniosynostosis - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'malformation syndrome' - 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'malformation syndrome' + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_2168 Label: Homocarnosinosis - 'Homocarnosinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Homocarnosinosis' SubClassOf 'part_of' some 'Disorder of peptide metabolism' - 'Homocarnosinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Homocarnosinosis' SubClassOf 'disease' - 'Homocarnosinosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Homocarnosinosis' SubClassOf 'disease' + 'Homocarnosinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Homocarnosinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peptide metabolism' + 'Homocarnosinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Homocarnosinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1556 Label: Cutis marmorata telangiectatica congenita - 'Cutis marmorata telangiectatica congenita' SubClassOf 'malformation syndrome' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'part_of' some 'Skin vascular disease' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_inheritance' some 'sporadic' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cutis marmorata telangiectatica congenita' SubClassOf 'part_of' some 'Capillary malformation' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'malformation syndrome' + 'Cutis marmorata telangiectatica congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Cutis marmorata telangiectatica congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2169 Label: Methylcobalamin deficiency type cblE - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' - 'Methylcobalamin deficiency type cblE' SubClassOf 'part_of' some 'Homocystinuria without methylmalonic aciduria' - 'Methylcobalamin deficiency type cblE' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Methylcobalamin deficiency type cblE' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylcobalamin deficiency type cblE' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homocystinuria without methylmalonic aciduria' + 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblE' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Methylcobalamin deficiency type cblE' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_122015 Label: gigaxonin - 'gigaxonin' SubClassOf 'gene' - 'gigaxonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Giant axonal neuropathy' + 'gigaxonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'gigaxonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Giant axonal neuropathy' + 'gigaxonin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268369 Label: Spina bifida aperta - 'Spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Spina bifida aperta' SubClassOf 'part_of' some 'Isolated spina bifida' - 'Spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Spina bifida aperta' SubClassOf 'morphological anomaly' + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "51.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "400.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated spina bifida' + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "62.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "400.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida aperta' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217346 Label: 19q13.11 microdeletion syndrome - '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 19' - '19q13.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '19q13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '19q13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19q13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 19' + '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '19q13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19q13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '19q13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268366 Label: Closed iniencephaly - 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Closed iniencephaly' SubClassOf 'part_of' some 'Iniencephaly' - 'Closed iniencephaly' SubClassOf 'clinical subtype' - 'Closed iniencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Closed iniencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Closed iniencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Closed iniencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iniencephaly' + 'Closed iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Closed iniencephaly' SubClassOf 'clinical subtype' + 'Closed iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Closed iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_73267 Label: Hypernychthemeral syndrome - 'Hypernychthemeral syndrome' SubClassOf 'part_of' some 'Sleep disorder' - 'Hypernychthemeral syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hypernychthemeral syndrome' SubClassOf 'disease' - 'Hypernychthemeral syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hypernychthemeral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypernychthemeral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypernychthemeral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypernychthemeral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Hypernychthemeral syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2165 Label: Holoprosencephaly - caudal dysgenesis - 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Holoprosencephaly - caudal dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_299630 Label: phosphodiesterase 4D, cAMP-specific - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' - 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'gene' + 'phosphodiesterase 4D, cAMP-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 4D, cAMP-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis with multiple hormone resistance' + 'phosphodiesterase 4D, cAMP-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_2166 Label: Holoprosencephaly - postaxial polydactyly - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'malformation syndrome' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122011 Label: guanidinoacetate N-methyltransferase - 'guanidinoacetate N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guanidinoacetate methyltransferase deficiency' - 'guanidinoacetate N-methyltransferase' SubClassOf 'gene' + 'guanidinoacetate N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Guanidinoacetate methyltransferase deficiency' + 'guanidinoacetate N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'guanidinoacetate N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2167 Label: Holzgreve-Wagner-Rehder syndrome - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'malformation syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'malformation syndrome' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299636 Label: phosphatidylinositol glycan anchor biosynthesis, class L - 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHIME syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHIME syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p12-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class L' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_73263 Label: Zygomycosis - 'Zygomycosis' SubClassOf 'disease' - 'Zygomycosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Zygomycosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Zygomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Zygomycosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Zygomycosis' SubClassOf 'disease' + 'Zygomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Zygomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Zygomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_268363 Label: Open iniencephaly - 'Open iniencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Open iniencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Open iniencephaly' SubClassOf 'part_of' some 'Iniencephaly' - 'Open iniencephaly' SubClassOf 'clinical subtype' - 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Open iniencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Open iniencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iniencephaly' + 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Open iniencephaly' SubClassOf 'clinical subtype' + 'Open iniencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Open iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Open iniencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_1551 Label: Familial benign copper deficiency - 'Familial benign copper deficiency' SubClassOf 'disease' - 'Familial benign copper deficiency' SubClassOf 'part_of' some 'Disorder of copper metabolism' + 'Familial benign copper deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of copper metabolism' + 'Familial benign copper deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2162 Label: Holoprosencephaly - 'Holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Holoprosencephaly' SubClassOf 'malformation syndrome' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Holoprosencephaly' SubClassOf 'part_of' some 'Midline cerebral malformation' - 'Holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Holoprosencephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C029 value "60.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Midline cerebral malformation' + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "502.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Holoprosencephaly' SubClassOf 'malformation syndrome' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_124154 Label: platelet-derived growth factor receptor, alpha polypeptide - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'gene' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRA rearrangement' - 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRA rearrangement' + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-derived growth factor receptor, alpha polypeptide' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Gastrointestinal stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_2163 Label: Holoprosencephaly - craniosynostosis - 'Holoprosencephaly - craniosynostosis' SubClassOf 'malformation syndrome' - 'Holoprosencephaly - craniosynostosis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Holoprosencephaly - craniosynostosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Holoprosencephaly - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Holoprosencephaly - craniosynostosis' SubClassOf 'malformation syndrome' + 'Holoprosencephaly - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_93951 Label: X-linked dominant intellectual disability - epilepsy - 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'disease' - 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' + 'X-linked dominant intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' + 'X-linked dominant intellectual disability - epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139168 Label: kallikrein-related peptidase 4 - 'kallikrein-related peptidase 4' SubClassOf 'gene' - 'kallikrein-related peptidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'kallikrein-related peptidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'kallikrein-related peptidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.41"^^http://www.w3.org/2001/XMLSchema#string + 'kallikrein-related peptidase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93952 Label: X-linked intellectual disability, Hedera type - 'X-linked intellectual disability, Hedera type' SubClassOf 'disease' - 'X-linked intellectual disability, Hedera type' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' + 'X-linked intellectual disability, Hedera type' SubClassOf 'disease' + 'X-linked intellectual disability, Hedera type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_183422 Label: Polymalformative genetic syndrome with increased risk of developing cancer - 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'group of disorders' + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'group of disorders' + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93950 Label: X-linked intellectual disability, Sutherland-Haan type - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139165 Label: ets variant 6 - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' - 'ets variant 6' SubClassOf 'gene' + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'ets variant 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'ets variant 6' SubClassOf 'Part of a fusion gene in' some 'Fibrosarcoma' + 'ets variant 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93955 Label: Benign essential blepharospasm - 'Benign essential blepharospasm' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Benign essential blepharospasm' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Benign essential blepharospasm' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Benign essential blepharospasm' SubClassOf 'disease' + 'Benign essential blepharospasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Benign essential blepharospasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Benign essential blepharospasm' SubClassOf 'disease' + 'Benign essential blepharospasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Benign essential blepharospasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_2170 Label: Methylcobalamin deficiency type cblG - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylcobalamin deficiency type cblG' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylcobalamin deficiency type cblG' SubClassOf 'part_of' some 'Homocystinuria without methylmalonic aciduria' - 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylcobalamin deficiency type cblG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Methylcobalamin deficiency type cblG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Homocystinuria without methylmalonic aciduria' + 'Methylcobalamin deficiency type cblG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' Class: http://www.orpha.net/ORDO/Orphanet_93956 Label: Truncal dystonia - 'Truncal dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Truncal dystonia' SubClassOf 'disease' + 'Truncal dystonia' SubClassOf 'disease' + 'Truncal dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_235199 Label: CD81 molecule - 'CD81 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'CD81 molecule' SubClassOf 'gene' + 'CD81 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'CD81 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD81 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93953 Label: Familial thyroglossal duct cyst - 'Familial thyroglossal duct cyst' SubClassOf 'part_of' some 'Congenital thyroid malformation without hypothyroidism' - 'Familial thyroglossal duct cyst' SubClassOf 'morphological anomaly' - 'Familial thyroglossal duct cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital thyroid malformation without hypothyroidism' + 'Familial thyroglossal duct cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217371 Label: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_93957 Label: Limb dystonia - 'Limb dystonia' SubClassOf 'disease' - 'Limb dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Limb dystonia' SubClassOf 'disease' + 'Limb dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93958 Label: Oromandibular dystonia - 'Oromandibular dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Oromandibular dystonia' SubClassOf 'disease' + 'Oromandibular dystonia' SubClassOf 'disease' + 'Oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_361157 Label: sodium channel, voltage-gated, type II, beta subunit - 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'gene' + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_313947 Label: 2q23.1 microduplication syndrome - '2q23.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 2' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '2q23.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q23.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 2' + '2q23.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q23.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q23.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q23.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124129 Label: pericentriolar material 1 - 'pericentriolar material 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'pericentriolar material 1' SubClassOf 'gene' + 'pericentriolar material 1' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'pericentriolar material 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pericentriolar material 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22-p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1568 Label: X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1566 Label: Dandy-Walker malformation - postaxial polydactyly - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_124125 Label: phosphoenolpyruvate carboxykinase 2 (mitochondrial) - 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 2 deficiency' - 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'gene' + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoenolpyruvate carboxykinase 2 (mitochondrial)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_73271 Label: Bleeding diathesis due to a collagen receptor defect - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a platelet receptor defect' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease' + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a platelet receptor defect' + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1564 Label: Dandy-Walker malformation - facial hemangioma - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dandy-Walker malformation - facial hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Dandy-Walker malformation - facial hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1563 Label: Dahlberg-Borer-Newcomer syndrome - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'malformation syndrome' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'malformation syndrome' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_73273 Label: Growth delay due to insulin-like growth factor I resistance - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'disease' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_prevalence' some 'Unknown' - 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'disease' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1562 Label: Dacryocystitis - osteopoikilosis - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Dacryocystitis - osteopoikilosis' SubClassOf 'malformation syndrome' + 'Dacryocystitis - osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Dacryocystitis - osteopoikilosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dacryocystitis - osteopoikilosis' SubClassOf 'malformation syndrome' + 'Dacryocystitis - osteopoikilosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_217377 Label: Microduplication Xp11.22-p11.23 syndrome - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome X' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'malformation syndrome' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome X' + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_73272 Label: Growth delay due to insulin-like growth factor type 1 deficiency - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'disease' - 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'disease' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1561 Label: Fatal infantile cytochrome C oxidase deficiency - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1560 Label: Cysticercosis - 'Cysticercosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cysticercosis' SubClassOf 'disease' - 'Cysticercosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cysticercosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Cysticercosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cysticercosis' SubClassOf 'disease' + 'Cysticercosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Cysticercosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cysticercosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_73274 Label: Acquired hemophilia - 'Acquired hemophilia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired hemophilia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acquired hemophilia' SubClassOf 'disease' - 'Acquired hemophilia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired hemophilia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired hemophilia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired hemophilia' SubClassOf 'disease' + 'Acquired hemophilia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Acquired hemophilia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired hemophilia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_124123 Label: phosphoenolpyruvate carboxykinase 1 (soluble) - 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'gene' - 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 1 deficiency' + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Phosphoenolpyruvate carboxykinase 1 deficiency' + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.31"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoenolpyruvate carboxykinase 1 (soluble)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2172 Label: Microcephaly - glomerulonephritis - marfanoid habitus - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159322 Label: ATPase, H+ transporting, lysosomal V0 subunit a2 - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cutis laxa type 2, classic type' - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'gene' - 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wrinkly skin syndrome' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive cutis laxa type 2, classic type' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Wrinkly skin syndrome' + 'ATPase, H+ transporting, lysosomal V0 subunit a2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139163 Label: excision repair cross-complementation group 1 - 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' - 'excision repair cross-complementation group 1' SubClassOf 'gene' - 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' + 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COFS syndrome' + 'excision repair cross-complementation group 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'excision repair cross-complementation group 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'excision repair cross-complementation group 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cockayne syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_2177 Label: Hydranencephaly - 'Hydranencephaly' SubClassOf 'malformation syndrome' - 'Hydranencephaly' SubClassOf 'part_of' some 'Encephaloclastic disorder' + 'Hydranencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Encephaloclastic disorder' + 'Hydranencephaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235193 Label: membrane-spanning 4-domains, subfamily A, member 1 - 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'gene' - 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12-q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'membrane-spanning 4-domains, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_268377 Label: Total spina bifida aperta - 'Total spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Total spina bifida aperta' SubClassOf 'clinical subtype' - 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Total spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Total spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Total spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Total spina bifida aperta' SubClassOf 'clinical subtype' + 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Total spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Total spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_2176 Label: Infantile systemic hyalinosis - 'Infantile systemic hyalinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile systemic hyalinosis' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Infantile systemic hyalinosis' SubClassOf 'malformation syndrome' - 'Infantile systemic hyalinosis' SubClassOf 'part_of' some 'Primary osteolysis' - 'Infantile systemic hyalinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile systemic hyalinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Infantile systemic hyalinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile systemic hyalinosis' SubClassOf 'malformation syndrome' + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_235187 Label: spectrin, alpha, non-erythrocytic 1 - 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'gene' - 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'spectrin, alpha, non-erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' + 'spectrin, alpha, non-erythrocytic 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_42665 Label: Tietz syndrome - 'Tietz syndrome' SubClassOf 'malformation syndrome' - 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tietz syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Tietz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tietz syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Tietz syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Tietz syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tietz syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf 'malformation syndrome' + 'Tietz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tietz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tietz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93940 Label: Laryngo-tracheo-esophageal cleft type 3 - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93941 Label: Laryngo-tracheo-esophageal cleft type 4 - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' + 'Laryngo-tracheo-esophageal cleft type 4' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93942 Label: Celosomia - 'Celosomia' SubClassOf 'part_of' some 'Sternal cleft' - 'Celosomia' SubClassOf 'morphological anomaly' + 'Celosomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sternal cleft' + 'Celosomia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_139158 Label: charged multivesicular body protein 4B - 'charged multivesicular body protein 4B' SubClassOf 'gene' - 'charged multivesicular body protein 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'charged multivesicular body protein 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'charged multivesicular body protein 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string + 'charged multivesicular body protein 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' Class: http://www.orpha.net/ORDO/Orphanet_2181 Label: Hydrocephaly - tall stature - joint laxity - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'malformation syndrome' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrocephaly - tall stature - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephaly - tall stature - joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235189 Label: heparanase 2 (inactive) - 'heparanase 2 (inactive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' - 'heparanase 2 (inactive)' SubClassOf 'gene' + 'heparanase 2 (inactive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'heparanase 2 (inactive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ochoa syndrome' + 'heparanase 2 (inactive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93945 Label: X-linked intellectual disability, Porteous type - 'X-linked intellectual disability, Porteous type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Porteous type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Porteous type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Porteous type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2180 Label: Hydrocephalus - costovertebral dysplasia - Sprengel anomaly - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'malformation syndrome' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'malformation syndrome' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93946 Label: Hamel cerebro-palato-cardiac syndrome - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'part_of' some 'Renpenning syndrome' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'clinical subtype' + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'clinical subtype' + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hamel cerebro-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93947 Label: X-linked intellectual disability, Golabi-Ito-Hall type - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'clinical subtype' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'part_of' some 'Renpenning syndrome' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renpenning syndrome' + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_390922 Label: growth factor independent 1B transcription repressor - 'growth factor independent 1B transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' - 'growth factor independent 1B transcription repressor' SubClassOf 'gene' + 'growth factor independent 1B transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' + 'growth factor independent 1B transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth factor independent 1B transcription repressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313936 Label: PENS syndrome - 'PENS syndrome' SubClassOf 'disease' - 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PENS syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'PENS syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'PENS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PENS syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'PENS syndrome' SubClassOf 'disease' + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'PENS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PENS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PENS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'PENS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35858 Label: Gr�sbeck-Imerslund disease - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Intestinal disease due to vitamin absorption anomaly' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Gr�sbeck-Imerslund disease' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Gr�sbeck-Imerslund disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Gr�sbeck-Imerslund disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to vitamin absorption anomaly' + 'Gr�sbeck-Imerslund disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gr�sbeck-Imerslund disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' + 'Gr�sbeck-Imerslund disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Gr�sbeck-Imerslund disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_320332 Label: X-linked pure spastic paraplegia - 'X-linked pure spastic paraplegia' SubClassOf 'group of disorders' + 'X-linked pure spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1578 Label: Dehydratase deficiency - 'Dehydratase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dehydratase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dehydratase deficiency' SubClassOf 'clinical subtype' - 'Dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dehydratase deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + 'Dehydratase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dehydratase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + 'Dehydratase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dehydratase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_320335 Label: Pure or complex hereditary spastic paraplegia - 'Pure or complex hereditary spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex hereditary spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1574 Label: Retinal degeneration - nanophthalmos - glaucoma - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'malformation syndrome' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'malformation syndrome' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_124137 Label: proprotein convertase subtilisin/kexin type 9 - 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' - 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'gene' + 'proprotein convertase subtilisin/kexin type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1-p32"^^http://www.w3.org/2001/XMLSchema#string + 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'proprotein convertase subtilisin/kexin type 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1576 Label: Infantile bilateral striatal necrosis - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Infantile bilateral striatal necrosis' SubClassOf 'disease' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Infantile bilateral striatal necrosis' SubClassOf 'disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1571 Label: Knobloch syndrome - 'Knobloch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Knobloch syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Knobloch syndrome' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Knobloch syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Knobloch syndrome' SubClassOf 'malformation syndrome' + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Knobloch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Knobloch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Knobloch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Knobloch syndrome' SubClassOf 'malformation syndrome' + 'Knobloch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2182 Label: Hydrocephalus with stenosis of the aqueduct of Sylvius - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'clinical subtype' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'part_of' some 'L1 syndrome' + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'clinical subtype' + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268384 Label: Thoracolumbosacral spina bifida aperta - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'clinical subtype' - 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thoracolumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'clinical subtype' + 'Thoracolumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1570 Label: Symbrachydactyly of hands and feet - 'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Brachydactyly' - 'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome' + 'Symbrachydactyly of hands and feet' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly' + 'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2183 Label: Hydrocephalus - obesity - hypogonadism - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'part_of' some 'Syndromic obesity' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'malformation syndrome' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'malformation syndrome' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Hydrocephalus - obesity - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1573 Label: Hypotrichosis with juvenile macular degeneration - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'malformation syndrome' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'malformation syndrome' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1572 Label: Common variable immunodeficiency - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Common variable immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Common variable immunodeficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Common variable immunodeficiency' SubClassOf 'disease' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.66"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.87"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.073"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'disease' + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.77"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency predominantly affecting antibody production' + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Common variable immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2185 Label: Congenital hydrocephalus - 'Congenital hydrocephalus' SubClassOf 'malformation syndrome' - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Non-syndromic central nervous system malformation' - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Congenital hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital hydrocephalus' SubClassOf 'malformation syndrome' + 'Congenital hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "300.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic central nervous system malformation' + 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_159313 Label: zinc finger, DHHC-type containing 9 - 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' - 'zinc finger, DHHC-type containing 9' SubClassOf 'gene' + 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' + 'zinc finger, DHHC-type containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, DHHC-type containing 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139150 Label: bridging integrator 1 - 'bridging integrator 1' SubClassOf 'gene' - 'bridging integrator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal recessive centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant centronuclear myopathy' + 'bridging integrator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124131 Label: proprotein convertase subtilisin/kexin type 1 - 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to prohormone convertase I deficiency' - 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'gene' + 'proprotein convertase subtilisin/kexin type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proprotein convertase subtilisin/kexin type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to prohormone convertase I deficiency' + 'proprotein convertase subtilisin/kexin type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q15-q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2186 Label: Hydrocephalus - blue sclerae - nephropathy - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'malformation syndrome' - 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'malformation syndrome' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_268388 Label: Lumbosacral spina bifida aperta - 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lumbosacral spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Lumbosacral spina bifida aperta' SubClassOf 'clinical subtype' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Lumbosacral spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' + 'Lumbosacral spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lumbosacral spina bifida aperta' SubClassOf 'clinical subtype' + 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lumbosacral spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lumbosacral spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_2189 Label: Hydrolethalus - 'Hydrolethalus' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Hydrolethalus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hydrolethalus' SubClassOf 'malformation syndrome' - 'Hydrolethalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hydrolethalus' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrolethalus' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Hydrolethalus' SubClassOf 'malformation syndrome' + 'Hydrolethalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrolethalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrolethalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_235181 Label: potassium inwardly-rectifying channel, subfamily J, member 5 - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'gene' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperaldosteronism type III' - 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial hyperaldosteronism type III' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_35878 Label: Hyperinsulinism-hyperammonemia syndrome - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_281695 Label: N(alpha)-acetyltransferase 10, NatA catalytic subunit - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'gene' - 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_49804 Label: Lichen amyloidosis - 'Lichen amyloidosis' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Lichen amyloidosis' SubClassOf 'disease' + 'Lichen amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Lichen amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139109 Label: chymotrypsin C (caldecrin) - 'chymotrypsin C (caldecrin)' SubClassOf 'gene' - 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' - 'chymotrypsin C (caldecrin)' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' + 'chymotrypsin C (caldecrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.21"^^http://www.w3.org/2001/XMLSchema#string + 'chymotrypsin C (caldecrin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'chymotrypsin C (caldecrin)' SubClassOf 'Major susceptibility factor in' some 'Tropical pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_281690 Label: biliverdin reductase A - 'biliverdin reductase A' SubClassOf 'gene' - 'biliverdin reductase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperbiliverdinemia' + 'biliverdin reductase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperbiliverdinemia' + 'biliverdin reductase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'biliverdin reductase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313920 Label: Epstein-Barr virus-associated gastric carcinoma - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'disease' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated carcinoma' - 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'part_of' some 'Gastric cancer' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf 'disease' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Epstein-Barr virus-associated gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_139106 Label: protease, serine, 2 (trypsin 2) - 'protease, serine, 2 (trypsin 2)' SubClassOf 'gene' - 'protease, serine, 2 (trypsin 2)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 2 (trypsin 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'protease, serine, 2 (trypsin 2)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 2 (trypsin 2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_217396 Label: Progressive demyelinating neuropathy with bilateral striatal necrosis - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'disease' - 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93976 Label: Anotia - 'Anotia' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Anotia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anotia' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly' - 'Anotia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anotia' SubClassOf 'morphological anomaly' + 'Anotia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.028"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anotia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pinnae and external auditory canal anomaly' + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anotia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Anotia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93975 Label: Renier-Gabreels-Jasper syndrome - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renier-Gabreels-Jasper syndrome' SubClassOf 'malformation syndrome' + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'malformation syndrome' + 'Renier-Gabreels-Jasper syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Renier-Gabreels-Jasper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Renier-Gabreels-Jasper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2190 Label: Congenital hydronephrosis - 'Congenital hydronephrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital hydronephrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital hydronephrosis' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Congenital hydronephrosis' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' - 'Congenital hydronephrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hydronephrosis' SubClassOf 'morphological anomaly' + 'Congenital hydronephrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Congenital hydronephrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hydronephrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Congenital hydronephrosis' SubClassOf 'morphological anomaly' + 'Congenital hydronephrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_268392 Label: Cervical spina bifida aperta - 'Cervical spina bifida aperta' SubClassOf 'clinical subtype' - 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervical spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervical spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cervical spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervical spina bifida aperta' SubClassOf 'clinical subtype' + 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervical spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervical spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93974 Label: Smith-Fineman-Myers syndrome - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Smith-Fineman-Myers syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Smith-Fineman-Myers syndrome' SubClassOf 'malformation syndrome' - 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Smith-Fineman-Myers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Smith-Fineman-Myers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Smith-Fineman-Myers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Smith-Fineman-Myers syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93973 Label: Carpenter-Waziri syndrome - 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carpenter-Waziri syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Carpenter-Waziri syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Carpenter-Waziri syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carpenter-Waziri syndrome' SubClassOf 'malformation syndrome' + 'Carpenter-Waziri syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carpenter-Waziri syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Carpenter-Waziri syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carpenter-Waziri syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carpenter-Waziri syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93972 Label: Juberg-Marsidi syndrome - 'Juberg-Marsidi syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Juberg-Marsidi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Juberg-Marsidi syndrome' SubClassOf 'malformation syndrome' - 'Juberg-Marsidi syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Juberg-Marsidi syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Juberg-Marsidi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Juberg-Marsidi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juberg-Marsidi syndrome' SubClassOf 'malformation syndrome' + 'Juberg-Marsidi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juberg-Marsidi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Juberg-Marsidi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93971 Label: Chudley-Lowry-Hoar syndrome - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'malformation syndrome' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'malformation syndrome' + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chudley-Lowry-Hoar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Chudley-Lowry-Hoar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Chudley-Lowry-Hoar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217390 Label: Combined immunodeficiency due to DOCK8 deficiency - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Autosomal recessive hyper-IgE syndrome' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hyper-IgE syndrome' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'clinical subtype' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320342 Label: Pure or complex autosomal dominant spastic paraplegia - 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122045 Label: glutaryl-CoA dehydrogenase - 'glutaryl-CoA dehydrogenase' SubClassOf 'gene' - 'glutaryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaryl-CoA dehydrogenase deficiency' + 'glutaryl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaryl-CoA dehydrogenase deficiency' + 'glutaryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutaryl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2199 Label: Epidermolytic palmoplantar keratoderma - 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' - 'Epidermolytic palmoplantar keratoderma' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268397 Label: Cervicothoracic spina bifida aperta - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervicothoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervicothoracic spina bifida aperta' SubClassOf 'clinical subtype' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervicothoracic spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' + 'Cervicothoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervicothoracic spina bifida aperta' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervicothoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2198 Label: Palmoplantar keratoderma-esophageal carcinoma syndrome - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_261295 Label: 20p12.3 microdeletion syndrome - '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '20p12.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '20p12.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '20p12.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 20' + '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '20p12.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '20p12.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '20p12.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 20' + '20p12.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '20p12.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_122043 Label: glucan (1,4-alpha-), branching enzyme 1 - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'gene' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' - 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult polyglucosan body disease' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult polyglucosan body disease' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' + 'glucan (1,4-alpha-), branching enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2197 Label: Idiopathic hypercalciuria - 'Idiopathic hypercalciuria' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Idiopathic hypercalciuria' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Idiopathic hypercalciuria' SubClassOf 'disease' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Idiopathic hypercalciuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124187 Label: peptidase D - 'peptidase D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prolidase deficiency' - 'peptidase D' SubClassOf 'gene' + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prolidase deficiency' + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peptidase D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2196 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disease' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_169960 Label: succinyl-CoA:glutarate-CoA transferase - 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 3' - 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'gene' + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 3' + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'succinyl-CoA:glutarate-CoA transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217399 Label: Congenital insensitivity to pain with hyperhidrosis - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'part_of' some 'Hereditary sensory and autonomic neuropathy' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'disease' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary sensory and autonomic neuropathy' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'disease' + 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2195 Label: Dicarboxylic aminoaciduria - 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dicarboxylic aminoaciduria' SubClassOf 'disease' - 'Dicarboxylic aminoaciduria' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' + 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dicarboxylic aminoaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dicarboxylic aminoaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' + 'Dicarboxylic aminoaciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124189 Label: peroxisomal biogenesis factor 1 - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 1' SubClassOf 'gene' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2194 Label: Anti-HLA hyperimmunization - 'Anti-HLA hyperimmunization' SubClassOf 'part_of' some 'Rare immune disease' - 'Anti-HLA hyperimmunization' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anti-HLA hyperimmunization' SubClassOf 'has_prevalence' some 'Unknown' - 'Anti-HLA hyperimmunization' SubClassOf 'disease' - 'Anti-HLA hyperimmunization' SubClassOf 'has_inheritance' some 'sporadic' + 'Anti-HLA hyperimmunization' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Anti-HLA hyperimmunization' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anti-HLA hyperimmunization' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' + 'Anti-HLA hyperimmunization' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398416 Label: glycophorin C (Gerbich blood group) - 'glycophorin C (Gerbich blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' - 'glycophorin C (Gerbich blood group)' SubClassOf 'gene' + 'glycophorin C (Gerbich blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycophorin C (Gerbich blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14-q21"^^http://www.w3.org/2001/XMLSchema#string + 'glycophorin C (Gerbich blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_261290 Label: Trisomy 17p - 'Trisomy 17p' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' - 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 17p' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 17p' SubClassOf 'has_prevalence' some 'Unknown' - 'Trisomy 17p' SubClassOf 'malformation syndrome' + 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 17p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trisomy 17p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' + 'Trisomy 17p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 17p' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 17p' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122048 Label: GTP cyclohydrolase 1 - 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GTP cyclohydrolase I deficiency' - 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant dopa-responsive dystonia' - 'GTP cyclohydrolase 1' SubClassOf 'gene' + 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GTP cyclohydrolase I deficiency' + 'GTP cyclohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'GTP cyclohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant dopa-responsive dystonia' + 'GTP cyclohydrolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320346 Label: Pure or complex autosomal recessive spastic paraplegia - 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1501 Label: Adrenocortical carcinoma - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'Rare cause of hypertension' - 'Adrenocortical carcinoma' SubClassOf 'disease' - 'Adrenocortical carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Adrenocortical carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Adrenocortical carcinoma' SubClassOf 'part_of' some 'ACTH-independent Cushing syndrome' - 'Adrenocortical carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Adrenocortical carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Adrenocortical carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adrenocortical carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH-independent Cushing syndrome' + 'Adrenocortical carcinoma' SubClassOf 'disease' + 'Adrenocortical carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cause of hypertension' + 'Adrenocortical carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_325448 Label: Leydig cell hypoplasia due to LHB deficiency - 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'part_of' some 'Leydig cell hypoplasia' - 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'clinical subtype' + 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leydig cell hypoplasia' + 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1506 Label: Thin ribs - tubular bones - dysmorphism - 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'malformation syndrome' + 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'malformation syndrome' + 'Thin ribs - tubular bones - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1505 Label: Short rib-polydactyly syndrome - 'Short rib-polydactyly syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Short rib-polydactyly syndrome' SubClassOf 'group of disorders' - 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short rib-polydactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Short rib-polydactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short rib-polydactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short rib-polydactyly syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1508 Label: Coxoauricular syndrome - 'Coxoauricular syndrome' SubClassOf 'malformation syndrome' - 'Coxoauricular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Coxoauricular syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coxoauricular syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Coxoauricular syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Coxoauricular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coxoauricular syndrome' SubClassOf 'malformation syndrome' + 'Coxoauricular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Coxoauricular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Coxoauricular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_35889 Label: Acute opioid poisoning - 'Acute opioid poisoning' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute opioid poisoning' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute opioid poisoning' SubClassOf 'disease' - 'Acute opioid poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute opioid poisoning' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute opioid poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute opioid poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Acute opioid poisoning' SubClassOf 'disease' + 'Acute opioid poisoning' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1507 Label: Autosomal recessive Robinow syndrome - 'Autosomal recessive Robinow syndrome' SubClassOf 'clinical subtype' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Robinow syndrome' SubClassOf 'part_of' some 'Robinow syndrome' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive Robinow syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive Robinow syndrome' SubClassOf 'clinical subtype' + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Robinow syndrome' + 'Autosomal recessive Robinow syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive Robinow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93969 Label: Myelomeningocele - 'Myelomeningocele' SubClassOf 'has_inheritance' some 'sporadic' - 'Myelomeningocele' SubClassOf 'morphological anomaly' - 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Myelomeningocele' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Myelomeningocele' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Myelomeningocele' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Myelomeningocele' SubClassOf 'morphological anomaly' + 'Myelomeningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myelomeningocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Myelomeningocele' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_236656 Label: CD2-associated protein - 'CD2-associated protein' SubClassOf 'gene' - 'CD2-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'CD2-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'CD2-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD2-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_1509 Label: Coxopodopatellar syndrome - 'Coxopodopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Coxopodopatellar syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coxopodopatellar syndrome' SubClassOf 'disease' - 'Coxopodopatellar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Coxopodopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coxopodopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Coxopodopatellar syndrome' SubClassOf 'disease' + 'Coxopodopatellar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Coxopodopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_217382 Label: Neurodegenerative syndrome due to cerebral folate transport deficiency - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_93964 Label: Blepharospasm - oromandibular dystonia - 'Blepharospasm - oromandibular dystonia' SubClassOf 'disease' - 'Blepharospasm - oromandibular dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' + 'Blepharospasm - oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Blepharospasm - oromandibular dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217385 Label: 17p13.3 microduplication syndrome - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 17' - '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '17p13.3 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '17p13.3 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '17p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 17' + '17p13.3 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17p13.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17p13.3 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17p13.3 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93961 Label: Laryngeal dyskinesia - 'Laryngeal dyskinesia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Laryngeal dyskinesia' SubClassOf 'disease' + 'Laryngeal dyskinesia' SubClassOf 'disease' + 'Laryngeal dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_93963 Label: Autosomal dominant focal dystonia, DYT7 type - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'disease' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'disease' + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_124191 Label: peroxisomal biogenesis factor 10 - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to PEX10 deficiency' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 10' SubClassOf 'gene' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to PEX10 deficiency' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.32"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93962 Label: Autosomal dominant cervical dystonia - 'Autosomal dominant cervical dystonia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal dominant cervical dystonia' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Autosomal dominant cervical dystonia' SubClassOf 'disease' - 'Autosomal dominant cervical dystonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant cervical dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf 'disease' + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Autosomal dominant cervical dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cervical dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_320350 Label: Pure or complex X-linked spastic paraplegia - 'Pure or complex X-linked spastic paraplegia' SubClassOf 'group of disorders' + 'Pure or complex X-linked spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124196 Label: peroxisomal biogenesis factor 13 - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 13' SubClassOf 'gene' - 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p16.1"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122053 Label: glucokinase (hexokinase 4) - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' - 'glucokinase (hexokinase 4)' SubClassOf 'gene' - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to glucokinase deficiency' - 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'glucokinase (hexokinase 4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to glucokinase deficiency' + 'glucokinase (hexokinase 4)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'glucokinase (hexokinase 4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.3-p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_124194 Label: peroxisomal biogenesis factor 12 - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 12' SubClassOf 'gene' - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_93970 Label: Holmes-Gang syndrome - 'Holmes-Gang syndrome' SubClassOf 'part_of' some 'X-linked intellectual disability - hypotonic face' - 'Holmes-Gang syndrome' SubClassOf 'malformation syndrome' - 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Holmes-Gang syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Holmes-Gang syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Holmes-Gang syndrome' SubClassOf 'malformation syndrome' + 'Holmes-Gang syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Holmes-Gang syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Holmes-Gang syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - hypotonic face' + 'Holmes-Gang syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_124198 Label: peroxisomal biogenesis factor 14 - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 14' SubClassOf 'gene' - 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169953 Label: golgin, RAB6-interacting - 'golgin, RAB6-interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' - 'golgin, RAB6-interacting' SubClassOf 'gene' + 'golgin, RAB6-interacting' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'golgin, RAB6-interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geroderma osteodysplastica' + 'golgin, RAB6-interacting' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_313906 Label: Congenital pancreatic cyst - 'Congenital pancreatic cyst' SubClassOf 'part_of' some 'Rare pancreatic disease' - 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pancreatic cyst' SubClassOf 'morphological anomaly' - 'Congenital pancreatic cyst' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital pancreatic cyst' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital pancreatic cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pancreatic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital pancreatic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pancreatic disease' + 'Congenital pancreatic cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1512 Label: Crane-Heise syndrome - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Crane-Heise syndrome' SubClassOf 'malformation syndrome' - 'Crane-Heise syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Crane-Heise syndrome' SubClassOf 'malformation syndrome' + 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122057 Label: glutamate-cysteine ligase, catalytic subunit - 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'gene' - 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamylcysteine synthetase deficiency' + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate-cysteine ligase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamylcysteine synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_320355 Label: Autosomal dominant spastic paraplegia type 41 - 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'disease' - 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 41' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_1513 Label: Craniodiaphyseal dysplasia - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Craniodiaphyseal dysplasia' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniodiaphyseal dysplasia' SubClassOf 'malformation syndrome' - 'Craniodiaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Craniodiaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniodiaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Craniodiaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniodiaphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1514 Label: Craniodigital syndrome - intellectual disability - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'malformation syndrome' - 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Craniodigital syndrome - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniodigital syndrome - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniodigital syndrome - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1515 Label: Cranioectodermal dysplasia - 'Cranioectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'malformation syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' - 'Cranioectodermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Cranioectodermal dysplasia' SubClassOf 'malformation syndrome' + 'Cranioectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Cranioectodermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Short rib-polydactyly syndrome' + 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cranioectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_169957 Label: prickle homolog 1 (Drosophila) - 'prickle homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'prickle homolog 1 (Drosophila)' SubClassOf 'gene' + 'prickle homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'prickle homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'prickle homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_49827 Label: Thiamine-responsive megaloblastic anemia syndrome - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_361114 Label: chromodomain helicase DNA binding protein 2 - 'chromodomain helicase DNA binding protein 2' SubClassOf 'gene' - 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' - 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonic-astastic epilepsy' + 'chromodomain helicase DNA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' + 'chromodomain helicase DNA binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myoclonic-astastic epilepsy' + 'chromodomain helicase DNA binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1519 Label: Hypertelorism, Teebi type - 'Hypertelorism, Teebi type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism, Teebi type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertelorism, Teebi type' SubClassOf 'malformation syndrome' - 'Hypertelorism, Teebi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Hypertelorism, Teebi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism, Teebi type' SubClassOf 'malformation syndrome' + 'Hypertelorism, Teebi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism, Teebi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism, Teebi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1517 Label: Hypertrichotic osteochondrodysplasia, Cantu type - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some 'sporadic' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'malformation syndrome' - 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1516 Label: Craniofacial dyssynostosis - 'Craniofacial dyssynostosis' SubClassOf 'malformation syndrome' - 'Craniofacial dyssynostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofacial dyssynostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial dyssynostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf 'malformation syndrome' + 'Craniofacial dyssynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniofacial dyssynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniofacial dyssynostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' + 'Craniofacial dyssynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320360 Label: Maternally-inherited spastic paraplegia - 'Maternally-inherited spastic paraplegia' SubClassOf 'part_of' some 'Complex hereditary spastic paraplegia' - 'Maternally-inherited spastic paraplegia' SubClassOf 'disease' + 'Maternally-inherited spastic paraplegia' SubClassOf 'disease' + 'Maternally-inherited spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex hereditary spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_124166 Label: pyruvate dehydrogenase complex, component X - 'pyruvate dehydrogenase complex, component X' SubClassOf 'gene' - 'pyruvate dehydrogenase complex, component X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E3-binding protein deficiency' + 'pyruvate dehydrogenase complex, component X' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate dehydrogenase complex, component X' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E3-binding protein deficiency' + 'pyruvate dehydrogenase complex, component X' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_124161 Label: pyruvate dehydrogenase (lipoamide) alpha 1 - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-alpha deficiency' - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'gene' - 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-alpha deficiency' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase (lipoamide) alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122022 Label: glycyl-tRNA synthetase - 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' - 'glycyl-tRNA synthetase' SubClassOf 'gene' - 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' + 'glycyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'glycyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' Class: http://www.orpha.net/ORDO/Orphanet_124164 Label: pyruvate dehydrogenase (lipoamide) beta - 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'gene' - 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-beta deficiency' + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyruvate dehydrogenase E1-beta deficiency' + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase (lipoamide) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.1-p14.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1525 Label: Cranio-osteoarthropathy - 'Cranio-osteoarthropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cranio-osteoarthropathy' SubClassOf 'part_of' some 'Primary hypertrophic osteoarthropathy' - 'Cranio-osteoarthropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cranio-osteoarthropathy' SubClassOf 'malformation syndrome' - 'Cranio-osteoarthropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Cranio-osteoarthropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypertrophic osteoarthropathy' + 'Cranio-osteoarthropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cranio-osteoarthropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cranio-osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cranio-osteoarthropathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320365 Label: Autosomal dominant spastic paraplegia type 36 - 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' - 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'disease' + 'Autosomal dominant spastic paraplegia type 36' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant complex spastic paraplegia' + 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1524 Label: Craniomicromelic syndrome - 'Craniomicromelic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniomicromelic syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniomicromelic syndrome' SubClassOf 'malformation syndrome' + 'Craniomicromelic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniomicromelic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniomicromelic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniomicromelic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169944 Label: lipin 1 - 'lipin 1' SubClassOf 'gene' - 'lipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'lipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'lipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' Class: http://www.orpha.net/ORDO/Orphanet_63999 Label: Mediastinal fibrosis - 'Mediastinal fibrosis' SubClassOf 'disease' - 'Mediastinal fibrosis' SubClassOf 'part_of' some 'Rare respiratory disease' + 'Mediastinal fibrosis' SubClassOf 'disease' + 'Mediastinal fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_361109 Label: GDP-mannose pyrophosphorylase B - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'gene' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' - 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2T' + 'GDP-mannose pyrophosphorylase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with intellectual disability' + 'GDP-mannose pyrophosphorylase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease' + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy with cerebellar involvement' + 'GDP-mannose pyrophosphorylase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2T' Class: http://www.orpha.net/ORDO/Orphanet_1521 Label: Craniofrontonasal dysplasia - Poland anomaly - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Syndromic breast hypoplasia/aplasia' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic breast hypoplasia/aplasia' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1522 Label: Craniometaphyseal dysplasia - 'Craniometaphyseal dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Craniometaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniometaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Craniometaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniometaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniometaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniometaphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122028 Label: GATA binding protein 1 (globin transcription factor 1) - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia with congenital dyserythropoietic anemia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia - X-linked thrombocytopenia' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' - 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'gene' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thrombocytopenia with congenital dyserythropoietic anemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Part of a fusion gene in' some 'Acute basophilic leukemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Blackfan-Diamond anemia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia - X-linked thrombocytopenia' + 'GATA binding protein 1 (globin transcription factor 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital erythropoietic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_1520 Label: Craniofrontonasal dysplasia - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Craniofrontonasal dysplasia' SubClassOf 'malformation syndrome' - 'Craniofrontonasal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Craniofrontonasal dysplasia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Craniofrontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofrontonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Craniofrontonasal dysplasia' SubClassOf 'malformation syndrome' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Craniofrontonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1528 Label: Craniotelencephalic dysplasia - 'Craniotelencephalic dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniotelencephalic dysplasia' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Craniotelencephalic dysplasia' SubClassOf 'malformation syndrome' + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' + 'Craniotelencephalic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniotelencephalic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1527 Label: Craniosynostosis, Philadelphia type - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis, Philadelphia type' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Craniosynostosis, Philadelphia type' SubClassOf 'malformation syndrome' - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis, Philadelphia type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis, Philadelphia type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Craniosynostosis, Philadelphia type' SubClassOf 'malformation syndrome' + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Craniosynostosis, Philadelphia type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis, Philadelphia type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis, Philadelphia type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis, Philadelphia type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_1529 Label: Craniofacial-deafness-hand syndrome - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofacial-deafness-hand syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniofacial-deafness-hand syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Craniofacial-deafness-hand syndrome' SubClassOf 'malformation syndrome' + 'Craniofacial-deafness-hand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_320370 Label: Autosomal recessive spastic paraplegia type 43 - 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 43' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_122033 Label: GATA binding protein 3 - 'GATA binding protein 3' SubClassOf 'gene' - 'GATA binding protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoparathyroidism - deafness - renal disease' - 'GATA binding protein 3' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypoparathyroidism - deafness - renal disease' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 3' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'GATA binding protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_320375 Label: Autosomal recessive spastic paraplegia type 55 - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124173 Label: pancreatic and duodenal homeobox 1 - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' - 'pancreatic and duodenal homeobox 1' SubClassOf 'gene' - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' - 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus' + 'pancreatic and duodenal homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'pancreatic and duodenal homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' + 'pancreatic and duodenal homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122035 Label: GATA binding protein 4 - 'GATA binding protein 4' SubClassOf 'gene' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' - 'GATA binding protein 4' SubClassOf 'Role in the phenotype of' some '8p23.1 microdeletion syndrome' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - Fallot tetralogy' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - left heart obstruction' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Partial atrioventricular canal' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1-p22"^^http://www.w3.org/2001/XMLSchema#string + 'GATA binding protein 4' SubClassOf 'Role in the phenotype of' some '8p23.1 microdeletion syndrome' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'GATA binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - left heart obstruction' Class: http://www.orpha.net/ORDO/Orphanet_1535 Label: Craniosynostosis - dysmorphism - brachydactyly - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'malformation syndrome' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'malformation syndrome' + 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122037 Label: glycine amidinotransferase (L-arginine:glycine amidinotransferase) - 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'gene' - 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arginine:glycine amidinotransferase deficiency' + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arginine:glycine amidinotransferase deficiency' + 'glycine amidinotransferase (L-arginine:glycine amidinotransferase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_169936 Label: eyes shut homolog (Drosophila) - 'eyes shut homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'eyes shut homolog (Drosophila)' SubClassOf 'gene' + 'eyes shut homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'eyes shut homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eyes shut homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1530 Label: Craniosynostosis - cataract - 'Craniosynostosis - cataract' SubClassOf 'malformation syndrome' - 'Craniosynostosis - cataract' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Craniosynostosis - cataract' SubClassOf 'malformation syndrome' + 'Craniosynostosis - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_122039 Label: glucosidase, beta, acid - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal Gaucher disease' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 3' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 1' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 2' - 'glucosidase, beta, acid' SubClassOf 'gene' - 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' - 'glucosidase, beta, acid' SubClassOf 'Major susceptibility factor in' some 'Young adult-onset Parkinsonism' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal Gaucher disease' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 3' + 'glucosidase, beta, acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 1' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease type 2' + 'glucosidase, beta, acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' + 'glucosidase, beta, acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucosidase, beta, acid' SubClassOf 'Major susceptibility factor in' some 'Young adult-onset Parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_1531 Label: Craniosynostosis - 'Craniosynostosis' SubClassOf 'group of disorders' + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "47.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "43.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Craniosynostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Craniosynostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1532 Label: G�mez-L�pez-Hern�ndez syndrome - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'malformation syndrome' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf 'malformation syndrome' + 'G�mez-L�pez-Hern�ndez syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_1533 Label: Craniosynostosis - fibular aplasia - 'Craniosynostosis - fibular aplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - fibular aplasia' SubClassOf 'malformation syndrome' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Craniosynostosis - fibular aplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniosynostosis - fibular aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Craniosynostosis - fibular aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis - fibular aplasia' SubClassOf 'malformation syndrome' + 'Craniosynostosis - fibular aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - fibular aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_2203 Label: Hyperlysinemia - 'Hyperlysinemia' SubClassOf 'part_of' some 'Disorder of lysine and hydroxylysine metabolism' - 'Hyperlysinemia' SubClassOf 'disease' - 'Hyperlysinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperlysinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperlysinemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperlysinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperlysinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysine and hydroxylysine metabolism' + 'Hyperlysinemia' SubClassOf 'disease' + 'Hyperlysinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2204 Label: Dysplastic cortical hyperostosis - 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' - 'Dysplastic cortical hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Dysplastic cortical hyperostosis' SubClassOf 'malformation syndrome' + 'Dysplastic cortical hyperostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_2201 Label: Palmoplantar keratoderma-spastic paralysis syndrome - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2202 Label: Palmoplantar keratoderma-deafness syndrome - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2207 Label: Familial primary hyperparathyroidism - 'Familial primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hyperparathyroidism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial primary hyperparathyroidism' SubClassOf 'group of disorders' - 'Familial primary hyperparathyroidism' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial primary hyperparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hyperparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial primary hyperparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_169910 Label: phosphodiesterase 11A - 'phosphodiesterase 11A' SubClassOf 'gene' - 'phosphodiesterase 11A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 11A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary pigmented nodular adrenocortical disease' + 'phosphodiesterase 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphodiesterase 11A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2206 Label: Ankylosing vertebral hyperostosis with tylosis - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'malformation syndrome' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'malformation syndrome' + 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159252 Label: zinc finger protein 674 - 'zinc finger protein 674' SubClassOf 'gene' - 'zinc finger protein 674' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'zinc finger protein 674' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 674' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 674' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119010 Label: B-cell CLL/lymphoma 7B - 'B-cell CLL/lymphoma 7B' SubClassOf 'gene' - 'B-cell CLL/lymphoma 7B' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119012 Label: BCL6 corepressor - 'BCL6 corepressor' SubClassOf 'gene' - 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculofaciocardiodental syndrome' - 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' + 'BCL6 corepressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculofaciocardiodental syndrome' + 'BCL6 corepressor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string + 'BCL6 corepressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' Class: http://www.orpha.net/ORDO/Orphanet_261243 Label: 16p13.11 microduplication syndrome - '16p13.11 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p13.11 microduplication syndrome' SubClassOf 'malformation syndrome' - '16p13.11 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' - '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '16p13.11 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' + '16p13.11 microduplication syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p13.11 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p13.11 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16p13.11 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_159255 Label: porcupine homolog (Drosophila) - 'porcupine homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal dermal hypoplasia' - 'porcupine homolog (Drosophila)' SubClassOf 'gene' + 'porcupine homolog (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal dermal hypoplasia' + 'porcupine homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'porcupine homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2200 Label: Focal palmoplantar and gingival keratoderma - 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' - 'Focal palmoplantar and gingival keratoderma' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Focal palmoplantar and gingival keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93890 Label: Rare developmental defect during embryogenesis - 'Rare developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare developmental defect during embryogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare developmental defect during embryogenesis' SubClassOf 'group of disorders' + 'Rare developmental defect during embryogenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.42"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_212892 Label: solute carrier family 1 (glial high affinity glutamate transporter), member 3 - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'gene' - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 6' - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Episodic ataxia type 6' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319667 Label: Primary lymphoma of the conjunctiva - 'Primary lymphoma of the conjunctiva' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary lymphoma of the conjunctiva' SubClassOf 'disease' + 'Primary lymphoma of the conjunctiva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' + 'Primary lymphoma of the conjunctiva' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119016 Label: breakpoint cluster region - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'breakpoint cluster region' SubClassOf 'gene' - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' - 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'breakpoint cluster region' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'breakpoint cluster region' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11"^^http://www.w3.org/2001/XMLSchema#string + 'breakpoint cluster region' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Chronic myeloid leukemia' + 'breakpoint cluster region' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'breakpoint cluster region' SubClassOf 'Role in the phenotype of' some 'Distal 22q11.2 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169908 Label: dynein, axonemal, intermediate chain 2 - 'dynein, axonemal, intermediate chain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'dynein, axonemal, intermediate chain 2' SubClassOf 'gene' + 'dynein, axonemal, intermediate chain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, intermediate chain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, intermediate chain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212898 Label: pleckstrin homology domain containing, family M (with RUN domain) member 1 - 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'gene' - 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'pleckstrin homology domain containing, family M (with RUN domain) member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_90673 Label: Hypothyroidism due to TSH receptor mutations - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'part_of' some 'Primary congenital hypothyroidism without thyroid developmental anomaly' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_prevalence' some 'Unknown' + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease' + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary congenital hypothyroidism without thyroid developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_169905 Label: T-box 15 - 'T-box 15' SubClassOf 'gene' - 'T-box 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelviscapular dysplasia' + 'T-box 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p11.1"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelviscapular dysplasia' + 'T-box 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90674 Label: Isolated thyroid-stimulating hormone deficiency - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'disease' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'disease' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_90692 Label: Rare endocrine growth disease - 'Rare endocrine growth disease' SubClassOf 'group of disorders' + 'Rare endocrine growth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_261250 Label: 16q24.3 microdeletion syndrome - '16q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16q24.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' + '16q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 16' + '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16q24.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16q24.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16q24.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_319651 Label: Constitutional megaloblastic anemia with severe neurologic disease - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_119021 Label: BC1 (ubiquinol-cytochrome c reductase) synthesis-like - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubulopathy - encephalopathy - liver failure' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'GRACILE syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bj�rnstad syndrome' - 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'gene' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubulopathy - encephalopathy - liver failure' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'GRACILE syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bj�rnstad syndrome' + 'BC1 (ubiquinol-cytochrome c reductase) synthesis-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_261257 Label: Distal 17p13.3 microdeletion syndrome - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' + 'Distal 17p13.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119029 Label: bestrophin 1 - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive bestrophinopathy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Best vitelliform macular dystrophy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MRCS syndrome' - 'bestrophin 1' SubClassOf 'gene' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant vitreoretinochoroidopathy' + 'bestrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12"^^http://www.w3.org/2001/XMLSchema#string + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive bestrophinopathy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Best vitelliform macular dystrophy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MRCS syndrome' + 'bestrophin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant vitreoretinochoroidopathy' + 'bestrophin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_119027 Label: brain-derived neurotrophic factor - 'brain-derived neurotrophic factor' SubClassOf 'Modifying germline mutation in' some 'WAGR syndrome' - 'brain-derived neurotrophic factor' SubClassOf 'gene' - 'brain-derived neurotrophic factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome' + 'brain-derived neurotrophic factor' SubClassOf 'Modifying germline mutation in' some 'WAGR syndrome' + 'brain-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'brain-derived neurotrophic factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2229 Label: Dilated cardiomyopathy - hypergonadotropic hypogonadism - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2228 Label: Hypodontia - dysplasia of nails - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypodontia - dysplasia of nails' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypodontia - dysplasia of nails' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypodontia - dysplasia of nails' SubClassOf 'malformation syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Hypodontia - dysplasia of nails' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypodontia - dysplasia of nails' SubClassOf 'malformation syndrome' + 'Hypodontia - dysplasia of nails' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2224 Label: Hypertryptophanemia - 'Hypertryptophanemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertryptophanemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypertryptophanemia' SubClassOf 'disease' - 'Hypertryptophanemia' SubClassOf 'part_of' some 'Disorder of tryptophan metabolism' + 'Hypertryptophanemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertryptophanemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertryptophanemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tryptophan metabolism' + 'Hypertryptophanemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2221 Label: Acquired hypertrichosis lanuginosa - 'Acquired hypertrichosis lanuginosa' SubClassOf 'part_of' some 'Hypertrichosis' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acquired hypertrichosis lanuginosa' SubClassOf 'disease' + 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired hypertrichosis lanuginosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired hypertrichosis lanuginosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Acquired hypertrichosis lanuginosa' SubClassOf 'disease' + 'Acquired hypertrichosis lanuginosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_261265 Label: 17q12 microdeletion syndrome - '17q12 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '17q12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '17q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' + '17q12 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2222 Label: Hypertrichosis lanuginosa congenita - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Eyebrow/eyelashes hypertrichosis' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Hypertrichosis' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'disease' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes hypertrichosis' + 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Hypertrichosis lanuginosa congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichosis lanuginosa congenita' SubClassOf 'disease' + 'Hypertrichosis lanuginosa congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2220 Label: Hypertrichosis cubiti - short stature - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypertrichosis cubiti - short stature' SubClassOf 'part_of' some 'Hypertrichosis' - 'Hypertrichosis cubiti - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrichosis cubiti - short stature' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypertrichosis cubiti - short stature' SubClassOf 'malformation syndrome' + 'Hypertrichosis cubiti - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypertrichosis cubiti - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Hypertrichosis cubiti - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypertrichosis cubiti - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Hypertrichosis cubiti - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrichosis cubiti - short stature' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319640 Label: Retinal macular dystrophy type 2 - 'Retinal macular dystrophy type 2' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Retinal macular dystrophy type 2' SubClassOf 'disease' + 'Retinal macular dystrophy type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Retinal macular dystrophy type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119034 Label: beaded filament structural protein 2, phakinin - 'beaded filament structural protein 2, phakinin' SubClassOf 'gene' - 'beaded filament structural protein 2, phakinin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial congenital cataract' + 'beaded filament structural protein 2, phakinin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'beaded filament structural protein 2, phakinin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'beaded filament structural protein 2, phakinin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_104012 Label: Rare inflammatory bowel disease - 'Rare inflammatory bowel disease' SubClassOf 'group of disorders' + 'Rare inflammatory bowel disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90658 Label: Charcot-Marie-Tooth disease type 1E - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_104011 Label: Intestinal tumor - 'Intestinal tumor' SubClassOf 'group of disorders' + 'Intestinal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104010 Label: Intestinal polyposis syndrome - 'Intestinal polyposis syndrome' SubClassOf 'group of disorders' + 'Intestinal polyposis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285758 Label: growth arrest-specific 1 - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'growth arrest-specific 1' SubClassOf 'gene' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'growth arrest-specific 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'growth arrest-specific 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth arrest-specific 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.3-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159272 Label: radixin - 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'radixin' SubClassOf 'gene' + 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'radixin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'radixin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_313892 Label: Developmental and speech delay due to SOX5 deficiency - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'disease' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some 'sporadic' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'disease' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Developmental and speech delay due to SOX5 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_319646 Label: PGM-CDG - 'PGM-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'PGM-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'PGM-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'PGM-CDG' SubClassOf 'disease' - 'PGM-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' + 'PGM-CDG' SubClassOf 'disease' + 'PGM-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' + 'PGM-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_323407 Label: endothelin converting enzyme-like 1 - 'endothelin converting enzyme-like 1' SubClassOf 'gene' - 'endothelin converting enzyme-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal arthrogryposis type 5D' + 'endothelin converting enzyme-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'endothelin converting enzyme-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'endothelin converting enzyme-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal arthrogryposis type 5D' Class: http://www.orpha.net/ORDO/Orphanet_104013 Label: Metabolic disease with intestinal involvement - 'Metabolic disease with intestinal involvement' SubClassOf 'group of disorders' + 'Metabolic disease with intestinal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181111 Label: F-box protein 7 - 'F-box protein 7' SubClassOf 'gene' - 'F-box protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' + 'F-box protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'F-box protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'F-box protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkinsonian-pyramidal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397802 Label: T+ B+ severe combined immunodeficiency - 'T+ B+ severe combined immunodeficiency' SubClassOf 'group of disorders' + 'T+ B+ severe combined immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90650 Label: Otopalatodigital syndrome type 1 - 'Otopalatodigital syndrome type 1' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome' - 'Otopalatodigital syndrome type 1' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otopalatodigital syndrome' + 'Otopalatodigital syndrome type 1' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_90652 Label: Otopalatodigital syndrome type 2 - 'Otopalatodigital syndrome type 2' SubClassOf 'clinical subtype' - 'Otopalatodigital syndrome type 2' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome' + 'Otopalatodigital syndrome type 2' SubClassOf 'clinical subtype' + 'Otopalatodigital syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otopalatodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90653 Label: Stickler syndrome type 1 - 'Stickler syndrome type 1' SubClassOf 'part_of' some 'Stickler syndrome' - 'Stickler syndrome type 1' SubClassOf 'clinical subtype' - 'Stickler syndrome type 1' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Stickler syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stickler syndrome' + 'Stickler syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_90654 Label: Stickler syndrome type 2 - 'Stickler syndrome type 2' SubClassOf 'clinical subtype' - 'Stickler syndrome type 2' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Stickler syndrome type 2' SubClassOf 'part_of' some 'Stickler syndrome' - 'Stickler syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Stickler syndrome type 2' SubClassOf 'clinical subtype' + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Stickler syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Stickler syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2216 Label: Maternal hyperthermia induced birth defects - 'Maternal hyperthermia induced birth defects' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' - 'Maternal hyperthermia induced birth defects' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Maternal hyperthermia induced birth defects' SubClassOf 'malformation syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf 'malformation syndrome' + 'Maternal hyperthermia induced birth defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternal disease-related embryofetopathy' Class: http://www.orpha.net/ORDO/Orphanet_2218 Label: Cervical hypertrichosis - peripheral neuropathy - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Hypertrichosis' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' Class: http://www.orpha.net/ORDO/Orphanet_169900 Label: glutaredoxin 5 - 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive sideroblastic anemia' - 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity-ataxia-gait anomalies syndrome' - 'glutaredoxin 5' SubClassOf 'gene' + 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive sideroblastic anemia' + 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spasticity-ataxia-gait anomalies syndrome' + 'glutaredoxin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutaredoxin 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2213 Label: Hypertelorism-microtia-facial clefting syndrome - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261272 Label: 17q12 microduplication syndrome - '17q12 microduplication syndrome' SubClassOf 'malformation syndrome' - '17q12 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' - '17q12 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '17q12 microduplication syndrome' SubClassOf 'malformation syndrome' + '17q12 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_2215 Label: Malignant hyperthermia - arthrogryposis - torticollis - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'malformation syndrome' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'malformation syndrome' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_181116 Label: eomesodermin - 'eomesodermin' SubClassOf 'gene' - 'eomesodermin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - polymicrogyria - corpus callosum agenesis' + 'eomesodermin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'eomesodermin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'eomesodermin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - polymicrogyria - corpus callosum agenesis' Class: http://www.orpha.net/ORDO/Orphanet_2211 Label: Hypertelorism - hypospadias - polysyndactyly syndrome - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119045 Label: biogenesis of lysosomal organelles complex-1, subunit 3 - 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 8' - 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'gene' + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome type 8' + 'biogenesis of lysosomal organelles complex-1, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_181119 Label: SECIS binding protein 2 - 'SECIS binding protein 2' SubClassOf 'gene' - 'SECIS binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' + 'SECIS binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'SECIS binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SECIS binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' Class: http://www.orpha.net/ORDO/Orphanet_261279 Label: 17q23.1q23.2 microdeletion syndrome - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 17' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '17q23.1q23.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '17q23.1q23.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '17q23.1q23.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_119048 Label: bone morphogenetic protein receptor, type IA - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'gene' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' - 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' + 'bone morphogenetic protein receptor, type IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized juvenile polyposis/juvenile polyposis coli' + 'bone morphogenetic protein receptor, type IA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary mixed polyposis syndrome' + 'bone morphogenetic protein receptor, type IA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary nonpolyposis colon cancer' Class: http://www.orpha.net/ORDO/Orphanet_244810 Label: DCC netrin 1 receptor - 'DCC netrin 1 receptor' SubClassOf 'gene' - 'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' + 'DCC netrin 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DCC netrin 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' Class: http://www.orpha.net/ORDO/Orphanet_370924 Label: STT3B-CDG - 'STT3B-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'STT3B-CDG' SubClassOf 'disease' - 'STT3B-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'STT3B-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'STT3B-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'STT3B-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'STT3B-CDG' SubClassOf 'disease' + 'STT3B-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'STT3B-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'STT3B-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'STT3B-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_104003 Label: Congenital intestinal transport defect - 'Congenital intestinal transport defect' SubClassOf 'group of disorders' + 'Congenital intestinal transport defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104005 Label: Intestinal disease due to fat malabsorption - 'Intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' + 'Intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181121 Label: spermatogenesis associated 16 - 'spermatogenesis associated 16' SubClassOf 'gene' - 'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'spermatogenesis associated 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermatogenesis associated 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.31"^^http://www.w3.org/2001/XMLSchema#string + 'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' Class: http://www.orpha.net/ORDO/Orphanet_370921 Label: STT3A-CDG - 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'STT3A-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'STT3A-CDG' SubClassOf 'disease' - 'STT3A-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'STT3A-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'STT3A-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'STT3A-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'STT3A-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'STT3A-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'STT3A-CDG' SubClassOf 'disease' + 'STT3A-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'STT3A-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_319635 Label: Amyloidosis cutis dyschromia - 'Amyloidosis cutis dyschromia' SubClassOf 'part_of' some 'Primary cutaneous amyloidosis' - 'Amyloidosis cutis dyschromia' SubClassOf 'disease' + 'Amyloidosis cutis dyschromia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous amyloidosis' + 'Amyloidosis cutis dyschromia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_104004 Label: Intestinal disease due to vitamin absorption anomaly - 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'group of disorders' + 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104007 Label: Congenital enteropathy involving intestinal mucosa development - 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'group of disorders' + 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104006 Label: Congenital intestinal disease due to an enzymatic defect - 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'group of disorders' + 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104009 Label: Congenital intestinal motility disorder - 'Congenital intestinal motility disorder' SubClassOf 'group of disorders' + 'Congenital intestinal motility disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_104008 Label: Short bowel syndrome - 'Short bowel syndrome' SubClassOf 'group of disorders' + 'Short bowel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Short bowel syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370927 Label: SSR4-CDG - 'SSR4-CDG' SubClassOf 'disease' - 'SSR4-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'SSR4-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SSR4-CDG' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'SSR4-CDG' SubClassOf 'has_inheritance' some 'x linked recessive' - 'SSR4-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SSR4-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SSR4-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SSR4-CDG' SubClassOf 'disease' + 'SSR4-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2209 Label: Maternal hyperphenylalaninemia - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maternal hyperphenylalaninemia' SubClassOf 'malformation syndrome' - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' - 'Maternal hyperphenylalaninemia' SubClassOf 'part_of' some 'Disorder of phenylalanine metabolism' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Maternal hyperphenylalaninemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Maternal hyperphenylalaninemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Maternal hyperphenylalaninemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Maternal hyperphenylalaninemia' SubClassOf 'malformation syndrome' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phenylalanine metabolism' + 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternal disease-related embryofetopathy' + 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Maternal hyperphenylalaninemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_73220 Label: X-linked intellectual disability - hypotonic face - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked intellectual disability - hypotonic face' SubClassOf 'group of disorders' + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - hypotonic face' SubClassOf 'group of disorders' + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - hypotonic face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73223 Label: Global developmental delay - osteopenia - ectodermal defect - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'malformation syndrome' - 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'malformation syndrome' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_159213 Label: TRIO and F-actin binding protein - 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'TRIO and F-actin binding protein' SubClassOf 'gene' + 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'TRIO and F-actin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'TRIO and F-actin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139173 Label: mesoderm posterior basic helix-loop-helix transcription factor 2 - 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'gene' - 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mesoderm posterior basic helix-loop-helix transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_73224 Label: Tubular renal disease - cardiomyopathy - 'Tubular renal disease - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'disease' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Tubular renal disease - cardiomyopathy' SubClassOf 'disease' + 'Tubular renal disease - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Tubular renal disease - cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tubular renal disease - cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2241 Label: Megacystis-microcolon-intestinal hypoperistalsis syndrome - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'malformation syndrome' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'malformation syndrome' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_124239 Label: phosphate regulating endopeptidase homolog, X-linked - 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypophosphatemia' - 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'gene' + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked hypophosphatemia' + 'phosphate regulating endopeptidase homolog, X-linked' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.2-p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2248 Label: Hypoplastic left heart syndrome - 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoplastic left heart syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypoplastic left heart syndrome' SubClassOf 'morphological anomaly' - 'Hypoplastic left heart syndrome' SubClassOf 'part_of' some 'Univentricular cardiopathy' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'morphological anomaly' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Univentricular cardiopathy' + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "49.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "56.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoplastic left heart syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hypoplastic left heart syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2246 Label: Cerebellar hypoplasia - tapetoretinal degeneration - 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'malformation syndrome' + 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Cerebellar hypoplasia - tapetoretinal degeneration' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159219 Label: spectrin repeat containing, nuclear envelope 1 - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive myogenic arthrogryposis multiplex congenita' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia, Beauce type' - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'gene' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.2-q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive myogenic arthrogryposis multiplex congenita' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia, Beauce type' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2249 Label: Ulna hypoplasia - intellectual disability - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'malformation syndrome' - 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulna hypoplasia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ulna hypoplasia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ulna hypoplasia - intellectual disability' SubClassOf 'malformation syndrome' + 'Ulna hypoplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Ulna hypoplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_370938 Label: Salt-and-pepper syndrome - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'ST3GAL5-CDG' - 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Salt-and-pepper syndrome' SubClassOf 'disease' - 'Salt-and-pepper syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Salt-and-pepper syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Salt-and-pepper syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Salt-and-pepper syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Salt-and-pepper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation anomaly of the skin' + 'Salt-and-pepper syndrome' SubClassOf 'disease' + 'Salt-and-pepper syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ST3GAL5-CDG' + 'Salt-and-pepper syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139178 Label: myotubularin related protein 14 - 'myotubularin related protein 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'myotubularin related protein 14' SubClassOf 'gene' + 'myotubularin related protein 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'myotubularin related protein 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26"^^http://www.w3.org/2001/XMLSchema#string + 'myotubularin related protein 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_370930 Label: XYLT1-CDG - 'XYLT1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'XYLT1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'XYLT1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'XYLT1-CDG' SubClassOf 'disease' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'XYLT1-CDG' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'XYLT1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'XYLT1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'XYLT1-CDG' SubClassOf 'disease' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'XYLT1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_139176 Label: matrix metallopeptidase 20 - 'matrix metallopeptidase 20' SubClassOf 'gene' - 'matrix metallopeptidase 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'matrix metallopeptidase 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'matrix metallopeptidase 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'matrix metallopeptidase 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_73217 Label: M�llerian aplasia - 'M�llerian aplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'M�llerian aplasia' SubClassOf 'group of disorders' - 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'M�llerian aplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'M�llerian aplasia' SubClassOf 'group of disorders' + 'M�llerian aplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'M�llerian aplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'M�llerian aplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_104077 Label: Myopathic intestinal pseudoobstruction - 'Myopathic intestinal pseudoobstruction' SubClassOf 'part_of' some 'Chronic intestinal pseudoobstruction' - 'Myopathic intestinal pseudoobstruction' SubClassOf 'etiological subtype' + 'Myopathic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic intestinal pseudoobstruction' + 'Myopathic intestinal pseudoobstruction' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_104078 Label: Unclassified intestinal pseudoobstruction - 'Unclassified intestinal pseudoobstruction' SubClassOf 'etiological subtype' - 'Unclassified intestinal pseudoobstruction' SubClassOf 'part_of' some 'Chronic intestinal pseudoobstruction' + 'Unclassified intestinal pseudoobstruction' SubClassOf 'etiological subtype' + 'Unclassified intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic intestinal pseudoobstruction' Class: http://www.orpha.net/ORDO/Orphanet_104075 Label: Small bowel adenocarcinoma - 'Small bowel adenocarcinoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Small bowel adenocarcinoma' SubClassOf 'disease' + 'Small bowel adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Small bowel adenocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_9 Label: Tetrasomy X - 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tetrasomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Tetrasomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Tetrasomy X' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Tetrasomy X' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tetrasomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Tetrasomy X' SubClassOf 'malformation syndrome' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Tetrasomy X' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Tetrasomy X' SubClassOf 'malformation syndrome' + 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tetrasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_370933 Label: ST3GAL5-CDG - 'ST3GAL5-CDG' SubClassOf 'group of disorders' + 'ST3GAL5-CDG' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319623 Label: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'etiological subtype' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_104076 Label: Small bowel leiomyosarcoma - 'Small bowel leiomyosarcoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Small bowel leiomyosarcoma' SubClassOf 'disease' + 'Small bowel leiomyosarcoma' SubClassOf 'disease' + 'Small bowel leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_5 Label: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some '3-hydroxyacyl-CoA dehydrogenase deficiency' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-hydroxyacyl-CoA dehydrogenase deficiency' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_261211 Label: 16p11.2p12.2 microdeletion syndrome - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p11.2p12.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + '16p11.2p12.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16p11.2p12.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_6 Label: Isolated 3-methylcrotonyl-CoA carboxylase deficiency - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.36"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124223 Label: phosphofructokinase, muscle - 'phosphofructokinase, muscle' SubClassOf 'gene' - 'phosphofructokinase, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphofructokinase deficiency' + 'phosphofructokinase, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.11"^^http://www.w3.org/2001/XMLSchema#string + 'phosphofructokinase, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle phosphofructokinase deficiency' + 'phosphofructokinase, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_7 Label: 3C syndrome - '3C syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '3C syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3C syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3C syndrome' SubClassOf 'malformation syndrome' - '3C syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3C syndrome' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - '3C syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '3C syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as major feature' - '3C syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a Dandy-Walker malformation as major feature' + '3C syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '3C syndrome' SubClassOf 'malformation syndrome' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + '3C syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_8 Label: 47,XYY syndrome - '47,XYY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '47,XYY syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - '47,XYY syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - '47,XYY syndrome' SubClassOf 'malformation syndrome' - '47,XYY syndrome' SubClassOf 'part_of' some 'Y chromosome number anomaly' + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + '47,XYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + '47,XYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.1"^^http://www.w3.org/2001/XMLSchema#string) + '47,XYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + '47,XYY syndrome' SubClassOf 'malformation syndrome' + '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Y chromosome number anomaly' + '47,XYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_139184 Label: NLR family, pyrin domain containing 1 - 'NLR family, pyrin domain containing 1' SubClassOf 'gene' - 'NLR family, pyrin domain containing 1' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' - 'NLR family, pyrin domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' + 'NLR family, pyrin domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string + 'NLR family, pyrin domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, pyrin domain containing 1' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'NLR family, pyrin domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' Class: http://www.orpha.net/ORDO/Orphanet_2230 Label: Hypogonadotropic hypogonadism - frontoparietal alopecia - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'disease' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'disease' + 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2233 Label: Hypogonadism - mitral valve prolapse - intellectual disability - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_2232 Label: Primary hypergonadotropic hypogonadism - partial alopecia - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2235 Label: Hypogonadotropic hypogonadism - retinitis pigmentosa - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'disease' - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'disease' + 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_2234 Label: Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'malformation syndrome' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_299660 Label: v-akt murine thymoma viral oncogene homolog 3 - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'gene' - 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-akt murine thymoma viral oncogene homolog 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemimegalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2237 Label: Hypoparathyroidism - deafness - renal disease - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'malformation syndrome' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'malformation syndrome' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Hypoparathyroidism - deafness - renal disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_363306 Label: Genetic intestinal disease due to fat malabsorption - 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' + 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_124229 Label: phosphoglucomutase 1 - 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglucomutase deficiency' - 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PGM-CDG' - 'phosphoglucomutase 1' SubClassOf 'gene' + 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglucomutase deficiency' + 'phosphoglucomutase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglucomutase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglucomutase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'PGM-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2239 Label: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'part_of' some 'Familial isolated hypoparathyroidism' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated hypoparathyroidism' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_124227 Label: phosphoglycerate kinase 1 - 'phosphoglycerate kinase 1' SubClassOf 'gene' - 'phosphoglycerate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' + 'phosphoglycerate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoglycerate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphoglycerate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2238 Label: Familial isolated hypoparathyroidism - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Genetic hypoparathyroidism' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Familial isolated hypoparathyroidism' SubClassOf 'part_of' some 'Rare hypoparathyroidism' - 'Familial isolated hypoparathyroidism' SubClassOf 'disease' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Familial isolated hypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial isolated hypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoparathyroidism' + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Familial isolated hypoparathyroidism' SubClassOf 'disease' + 'Familial isolated hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypoparathyroidism' + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated hypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363310 Label: WD repeat domain 60 - 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'WD repeat domain 60' SubClassOf 'gene' + 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'WD repeat domain 60' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.3"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 60' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'WD repeat domain 60' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363314 Label: Genetic intestinal polyposis - 'Genetic intestinal polyposis' SubClassOf 'group of disorders' + 'Genetic intestinal polyposis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_139187 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_370943 Label: Autism spectrum disorder-epilepsy-arthrogryposis syndrome - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'disease' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'part_of' some 'Rare disease with autism' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'disease' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' Class: http://www.orpha.net/ORDO/Orphanet_139189 Label: partner and localizer of BRCA2 - 'partner and localizer of BRCA2' SubClassOf 'gene' - 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'partner and localizer of BRCA2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'partner and localizer of BRCA2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'partner and localizer of BRCA2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'partner and localizer of BRCA2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_248276 Label: mitogen-activated protein kinase 10 - 'mitogen-activated protein kinase 10' SubClassOf 'Candidate gene tested in' some 'Lennox-Gastaut syndrome' - 'mitogen-activated protein kinase 10' SubClassOf 'gene' + 'mitogen-activated protein kinase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase 10' SubClassOf 'Candidate gene tested in' some 'Lennox-Gastaut syndrome' + 'mitogen-activated protein kinase 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319612 Label: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'etiological subtype' - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'etiological subtype' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_261204 Label: 16p11.2p12.2 microduplication syndrome - '16p11.2p12.2 microduplication syndrome' SubClassOf 'malformation syndrome' - '16p11.2p12.2 microduplication syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '16p11.2p12.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 16' + '16p11.2p12.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '16p11.2p12.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_313884 Label: 12p12.1 microdeletion syndrome - '12p12.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '12p12.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '12p12.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 12' - '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '12p12.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '12p12.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 12' + '12p12.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '12p12.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '12p12.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159233 Label: phospholipase C, epsilon 1 - 'phospholipase C, epsilon 1' SubClassOf 'gene' - 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'phospholipase C, epsilon 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'phospholipase C, epsilon 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'phospholipase C, epsilon 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_139197 Label: solute carrier family 35 (CMP-sialic acid transporter), member A1 - 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'gene' - 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A1-CDG' + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q15"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 35 (CMP-sialic acid transporter), member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'SLC35A1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_2266 Label: Hypotrichosis-intellectual disability, Lopes type - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'disease' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'disease' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_299652 Label: sorting nexin 10 - 'sorting nexin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' - 'sorting nexin 10' SubClassOf 'gene' + 'sorting nexin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'sorting nexin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sorting nexin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_73245 Label: Spinal muscular atrophy - Dandy-Walker malformation - cataracts - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'malformation syndrome' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'malformation syndrome' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' Class: http://www.orpha.net/ORDO/Orphanet_73246 Label: Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'malformation syndrome' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'malformation syndrome' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_299657 Label: mitochondrial methionyl-tRNA formyltransferase - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'gene' - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 15' - 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 15' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrial methionyl-tRNA formyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_139193 Label: solute carrier family 46 (folate transporter), member 1 - 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'gene' - 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary folate malabsorption' + 'solute carrier family 46 (folate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 46 (folate transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 46 (folate transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary folate malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_2261 Label: Hypospadias - intellectual disability, Goldblatt type - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'malformation syndrome' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'malformation syndrome' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124211 Label: peroxisomal biogenesis factor 5 - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 5' SubClassOf 'gene' - 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_2260 Label: Oligomeganephronia - 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oligomeganephronia' SubClassOf 'has_prevalence' some 'Unknown' - 'Oligomeganephronia' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Oligomeganephronia' SubClassOf 'has_inheritance' some 'sporadic' - 'Oligomeganephronia' SubClassOf 'morphological anomaly' + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Oligomeganephronia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oligomeganephronia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Oligomeganephronia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Oligomeganephronia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_261222 Label: Distal 16p11.2 microdeletion syndrome - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124215 Label: peroxisomal biogenesis factor 6 - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 6' SubClassOf 'gene' + 'peroxisomal biogenesis factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22-p11"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2269 Label: Ichthyosis - alopecia - eclabion - ectropion - intellectual disability - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'disease' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'disease' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_124219 Label: peroxisomal biogenesis factor 7 - 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' - 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 1' - 'peroxisomal biogenesis factor 7' SubClassOf 'gene' + 'peroxisomal biogenesis factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21-q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Refsum disease' + 'peroxisomal biogenesis factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 1' Class: http://www.orpha.net/ORDO/Orphanet_2268 Label: ICF syndrome - 'ICF syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'ICF syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'ICF syndrome' SubClassOf 'malformation syndrome' - 'ICF syndrome' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' - 'ICF syndrome' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'ICF syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic agammaglobulinemia' + 'ICF syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'ICF syndrome' SubClassOf 'malformation syndrome' + 'ICF syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'ICF syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_2267 Label: Ichthyosis-cheek-eyebrow syndrome - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'disease' + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90695 Label: Panhypopituitarism - 'Panhypopituitarism' SubClassOf 'disease' - 'Panhypopituitarism' SubClassOf 'part_of' some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' - 'Panhypopituitarism' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' + 'Panhypopituitarism' SubClassOf 'disease' + 'Panhypopituitarism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_212874 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated thyroxine-binding globulin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital isolated thyroxine-binding globulin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_313855 Label: FGFR2-related bent bone dysplasia - 'FGFR2-related bent bone dysplasia' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'FGFR2-related bent bone dysplasia' SubClassOf 'disease' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'FGFR2-related bent bone dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'FGFR2-related bent bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'FGFR2-related bent bone dysplasia' SubClassOf 'disease' + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'FGFR2-related bent bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363300 Label: Genetic intractable diarrhea of infancy - 'Genetic intractable diarrhea of infancy' SubClassOf 'group of disorders' + 'Genetic intractable diarrhea of infancy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370959 Label: Congenital muscular dystrophy with cerebellar involvement - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disease' - 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' + 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_212878 Label: contactin 1 - 'contactin 1' SubClassOf 'gene' - 'contactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lethal myopathy, Compton-North type' + 'contactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lethal myopathy, Compton-North type' + 'contactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'contactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q11-q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_299649 Label: X-ray repair complementing defective repair in Chinese hamster cells 2 - 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'gene' - 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'X-ray repair complementing defective repair in Chinese hamster cells 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319600 Label: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'part_of' some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'disease' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'disease' + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_313850 Label: Infantile cerebellar-retinal degeneration - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' Class: http://www.orpha.net/ORDO/Orphanet_370953 Label: Congenital muscular dystrophy due to dystroglycanopathy - 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'group of disorders' + 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319605 Label: X-linked mendelian susceptibility to mycobacterial diseases - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'part_of' some 'Mendelian susceptibility to mycobacterial diseases' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139199 Label: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa - 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'gene' - 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dystonia-parkinsonism' + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked dystonia-parkinsonism' + 'TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2253 Label: Foveal hypoplasia - presenile cataract - 'Foveal hypoplasia - presenile cataract' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'disease' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Foveal hypoplasia - presenile cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Foveal hypoplasia - presenile cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Foveal hypoplasia - presenile cataract' SubClassOf 'disease' + 'Foveal hypoplasia - presenile cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_217335 Label: MACS syndrome - 'MACS syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MACS syndrome' SubClassOf 'malformation syndrome' - 'MACS syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MACS syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'MACS syndrome' SubClassOf 'malformation syndrome' + 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MACS syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MACS syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MACS syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'MACS syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2252 Label: Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'malformation syndrome' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'malformation syndrome' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_248293 Label: Rare deficiency anemia - 'Rare deficiency anemia' SubClassOf 'group of disorders' + 'Rare deficiency anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75496 Label: Ehlers-Danlos syndrome, progeroid type - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2255 Label: Pancreatic hypoplasia - diabetes - congenital heart disease - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'disease' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'disease' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_75497 Label: X-linked Ehlers-Danlos syndrome - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'disease' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'disease' + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked Ehlers-Danlos syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'X-linked Ehlers-Danlos syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_299641 Label: superkiller viralicidic activity 2-like (S. cerevisiae) - 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'gene' - 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndromic diarrhea' + 'superkiller viralicidic activity 2-like (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2254 Label: Pontocerebellar hypoplasia type 1 - 'Pontocerebellar hypoplasia type 1' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 1' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Pontocerebellar hypoplasia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_73230 Label: Ossification anomalies - psychomotor development delay - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'disease' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Thoracic malformation' - 'Ossification anomalies - psychomotor development delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ossification anomalies - psychomotor development delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Ossification anomalies - psychomotor development delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ossification anomalies - psychomotor development delay' SubClassOf 'disease' + 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' Class: http://www.orpha.net/ORDO/Orphanet_159242 Label: cardiotrophin-like cytokine factor 1 - 'cardiotrophin-like cytokine factor 1' SubClassOf 'gene' - 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' + 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crisponi syndrome' + 'cardiotrophin-like cytokine factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cardiotrophin-like cytokine factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cardiotrophin-like cytokine factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cold-induced sweating syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124200 Label: peroxisomal biogenesis factor 16 - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 16' SubClassOf 'gene' - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2251 Label: Thumb deformity - alopecia - pigmentation anomaly - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'malformation syndrome' - 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'malformation syndrome' + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2250 Label: Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'disease' - 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'disease' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_261236 Label: 16p13.11 microdeletion syndrome - '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16p13.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16' - '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16p13.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '16p13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 16' + '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16p13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '16p13.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + '16p13.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '16p13.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16p13.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_124202 Label: peroxisomal biogenesis factor 19 - 'peroxisomal biogenesis factor 19' SubClassOf 'gene' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2257 Label: Familial primary pulmonary hypoplasia - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Familial primary pulmonary hypoplasia' SubClassOf 'malformation syndrome' - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Familial primary pulmonary hypoplasia' SubClassOf 'part_of' some 'Genetic respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Familial primary pulmonary hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_124209 Label: peroxisomal biogenesis factor 3 - 'peroxisomal biogenesis factor 3' SubClassOf 'gene' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2256 Label: Fibulo-ulnar hypoplasia - renal anomalies - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'malformation syndrome' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'malformation syndrome' + 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_124206 Label: peroxisomal biogenesis factor 26 - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 26' SubClassOf 'gene' - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_212885 Label: forkhead box P2 - 'forkhead box P2' SubClassOf 'Role in the phenotype of' some '7q31 microdeletion syndrome' - 'forkhead box P2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood apraxia of speech' - 'forkhead box P2' SubClassOf 'gene' + 'forkhead box P2' SubClassOf 'Role in the phenotype of' some '7q31 microdeletion syndrome' + 'forkhead box P2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood apraxia of speech' + 'forkhead box P2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box P2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119005 Label: branched chain keto acid dehydrogenase E1, beta polypeptide - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'gene' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermittent maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Intermediate maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_261229 Label: 14q11.2 microduplication syndrome - '14q11.2 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 14' - '14q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '14q11.2 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_73229 Label: Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Basement membrane disease' - 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'disease' + 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_370968 Label: Congenital muscular dystrophy with intellectual disability - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Congenital muscular dystrophy due to dystroglycanopathy' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'disease' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'disease' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Congenital muscular dystrophy with intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy due to dystroglycanopathy' Class: http://www.orpha.net/ORDO/Orphanet_119002 Label: branched chain keto acid dehydrogenase E1, alpha polypeptide - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'gene' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' - 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' + 'branched chain keto acid dehydrogenase E1, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217330 Label: Hyperuricemia - anemia - renal failure - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'disease' - 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperuricemia - anemia - renal failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperuricemia - anemia - renal failure' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperuricemia - anemia - renal failure' SubClassOf 'disease' + 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_248296 Label: Constitutional deficiency anemia - 'Constitutional deficiency anemia' SubClassOf 'group of disorders' + 'Constitutional deficiency anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119007 Label: B-cell CLL/lymphoma 2 - 'B-cell CLL/lymphoma 2' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' - 'B-cell CLL/lymphoma 2' SubClassOf 'Modifying somatic mutation in' some 'Intravascular large B-cell lymphoma' - 'B-cell CLL/lymphoma 2' SubClassOf 'gene' + 'B-cell CLL/lymphoma 2' SubClassOf 'Part of a fusion gene in' some 'Follicular lymphoma' + 'B-cell CLL/lymphoma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'B-cell CLL/lymphoma 2' SubClassOf 'Modifying somatic mutation in' some 'Intravascular large B-cell lymphoma' + 'B-cell CLL/lymphoma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_212882 Label: cytochrome P450, family 7, subfamily A, polypeptide 1 - 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' - 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q11-q12"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 7, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_117853 Label: polycystic kidney and hepatic disease 1 (autosomal recessive) - 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive polycystic kidney disease' - 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'gene' + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.2-p12"^^http://www.w3.org/2001/XMLSchema#string + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive polycystic kidney disease' + 'polycystic kidney and hepatic disease 1 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_101941 Label: Rare biliary tract disease - 'Rare biliary tract disease' SubClassOf 'group of disorders' + 'Rare biliary tract disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101940 Label: Rare metabolic liver disease - 'Rare metabolic liver disease' SubClassOf 'group of disorders' + 'Rare metabolic liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101943 Label: Rare hepatic and biliary tract tumor - 'Rare hepatic and biliary tract tumor' SubClassOf 'group of disorders' + 'Rare hepatic and biliary tract tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101945 Label: Rare bronchopulmonary tumor - 'Rare bronchopulmonary tumor' SubClassOf 'group of disorders' + 'Rare bronchopulmonary tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101944 Label: Rare pulmonary disease - 'Rare pulmonary disease' SubClassOf 'group of disorders' + 'Rare pulmonary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119092 Label: biotinidase - 'biotinidase' SubClassOf 'gene' - 'biotinidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotinidase deficiency' + 'biotinidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'biotinidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'biotinidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Biotinidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_101936 Label: Rare gastroesophageal disease - 'Rare gastroesophageal disease' SubClassOf 'group of disorders' + 'Rare gastroesophageal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101937 Label: Rare pancreatic disease - 'Rare pancreatic disease' SubClassOf 'group of disorders' + 'Rare pancreatic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101938 Label: Rare vascular liver disease - 'Rare vascular liver disease' SubClassOf 'group of disorders' + 'Rare vascular liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101939 Label: Rare parenchymatous liver disease - 'Rare parenchymatous liver disease' SubClassOf 'group of disorders' + 'Rare parenchymatous liver disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123144 Label: microtubule-associated protein tau - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - pure akinesia with gait freezing' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'microtubule-associated protein tau' SubClassOf 'gene' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - parkinsonism' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Classical progressive supranuclear palsy' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - corticobasal syndrome' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' - 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - progressive non fluent aphasia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'microtubule-associated protein tau' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'microtubule-associated protein tau' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - pure akinesia with gait freezing' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - parkinsonism' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Classical progressive supranuclear palsy' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - corticobasal syndrome' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'microtubule-associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive supranuclear palsy - progressive non fluent aphasia' Class: http://www.orpha.net/ORDO/Orphanet_165577 Label: hes family bHLH transcription factor 7 - 'hes family bHLH transcription factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' - 'hes family bHLH transcription factor 7' SubClassOf 'gene' + 'hes family bHLH transcription factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'hes family bHLH transcription factor 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hes family bHLH transcription factor 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_123140 Label: mitogen-activated protein kinase kinase 2 - 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' - 'mitogen-activated protein kinase kinase 2' SubClassOf 'gene' + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' + 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis-Noonan syndrome' + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119094 Label: Bruton agammaglobulinemia tyrosine kinase - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked agammaglobulinemia' - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' - 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'gene' + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.33-q22"^^http://www.w3.org/2001/XMLSchema#string + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked agammaglobulinemia' + 'Bruton agammaglobulinemia tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_117861 Label: pyruvate kinase, liver and RBC - 'pyruvate kinase, liver and RBC' SubClassOf 'gene' - 'pyruvate kinase, liver and RBC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to red cell pyruvate kinase deficiency' + 'pyruvate kinase, liver and RBC' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate kinase, liver and RBC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to red cell pyruvate kinase deficiency' + 'pyruvate kinase, liver and RBC' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_117868 Label: plakophilin 1 - 'plakophilin 1' SubClassOf 'gene' - 'plakophilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex due to plakophilin deficiency' + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Epidermolysis bullosa simplex due to plakophilin deficiency' + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plakophilin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101934 Label: Genetic cardiac rhythm disease - 'Genetic cardiac rhythm disease' SubClassOf 'group of disorders' + 'Genetic cardiac rhythm disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101932 Label: Anomaly of the mitral subvalvular apparatus - 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' - 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'morphological anomaly' + 'Anomaly of the mitral subvalvular apparatus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Anomaly of the mitral subvalvular apparatus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123135 Label: mitogen-activated protein kinase kinase 1 - 'mitogen-activated protein kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'mitogen-activated protein kinase kinase 1' SubClassOf 'gene' + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.1-q22.33"^^http://www.w3.org/2001/XMLSchema#string + 'mitogen-activated protein kinase kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123133 Label: monoamine oxidase A - 'monoamine oxidase A' SubClassOf 'gene' - 'monoamine oxidase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monoamine oxidase A deficiency' + 'monoamine oxidase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Monoamine oxidase A deficiency' + 'monoamine oxidase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.3"^^http://www.w3.org/2001/XMLSchema#string + 'monoamine oxidase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97598 Label: Congenital renal artery stenosis - 'Congenital renal artery stenosis' SubClassOf 'disease' - 'Congenital renal artery stenosis' SubClassOf 'part_of' some 'Rare cause of hypertension' + 'Congenital renal artery stenosis' SubClassOf 'disease' + 'Congenital renal artery stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_123131 Label: mannosidase, beta A, lysosomal - 'mannosidase, beta A, lysosomal' SubClassOf 'gene' - 'mannosidase, beta A, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-mannosidosis' + 'mannosidase, beta A, lysosomal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-mannosidosis' + 'mannosidase, beta A, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'mannosidase, beta A, lysosomal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_97593 Label: Pseudohypoparathyroidism - 'Pseudohypoparathyroidism' SubClassOf 'group of disorders' + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Pseudohypoparathyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pseudohypoparathyroidism' SubClassOf 'group of disorders' + 'Pseudohypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudohypoparathyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324930 Label: Granulomatous autoinflammatory syndrome - 'Granulomatous autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Granulomatous autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324933 Label: Mixed autoinflammatory and autoimmune syndrome - 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf 'group of disorders' + 'Mixed autoinflammatory and autoimmune syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304764 Label: spermatogenesis and oogenesis specific basic helix-loop-helix 1 - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'gene' - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324936 Label: Unclassified autoinflammatory syndrome - 'Unclassified autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Unclassified autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117832 Label: paired-like homeodomain 2 - 'paired-like homeodomain 2' SubClassOf 'gene' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ring dermoid of cornea' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ring dermoid of cornea' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld-Rieger syndrome' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rieger anomaly' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'paired-like homeodomain 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Axenfeld anomaly' Class: http://www.orpha.net/ORDO/Orphanet_101960 Label: Genetic chronic primary adrenal insufficiency - 'Genetic chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Genetic chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101963 Label: Acquired chronic primary adrenal insufficiency - 'Acquired chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Acquired chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123124 Label: leucine-rich pentatricopeptide repeat containing - 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' - 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'gene' + 'leucine-rich pentatricopeptide repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich pentatricopeptide repeat containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' + 'leucine-rich pentatricopeptide repeat containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101957 Label: Pituitary deficiency - 'Pituitary deficiency' SubClassOf 'group of disorders' + 'Pituitary deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123129 Label: leucine rich repeat containing 8 family, member A - 'leucine rich repeat containing 8 family, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' - 'leucine rich repeat containing 8 family, member A' SubClassOf 'gene' + 'leucine rich repeat containing 8 family, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine rich repeat containing 8 family, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'leucine rich repeat containing 8 family, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101958 Label: Primary adrenal insufficiency - 'Primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101959 Label: Chronic primary adrenal insufficiency - 'Chronic primary adrenal insufficiency' SubClassOf 'group of disorders' + 'Chronic primary adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic primary adrenal insufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic primary adrenal insufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Chronic primary adrenal insufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic primary adrenal insufficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324927 Label: Pyogenic autoinflammatory syndrome - 'Pyogenic autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Pyogenic autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_366823 Label: paired box 5 - 'paired box 5' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'paired box 5' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'paired box 5' SubClassOf 'gene' + 'paired box 5' SubClassOf 'Part of a fusion gene in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'paired box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'paired box 5' SubClassOf 'Major susceptibility factor in' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_324924 Label: Hereditary periodic fever syndrome - 'Hereditary periodic fever syndrome' SubClassOf 'group of disorders' + 'Hereditary periodic fever syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117846 Label: polycystic kidney disease 1 (autosomal dominant) - 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'gene' - 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polycystic kidney disease 1 (autosomal dominant)' SubClassOf 'Role in the phenotype of' some 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_101956 Label: Polyendocrinopathy - 'Polyendocrinopathy' SubClassOf 'group of disorders' + 'Polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101955 Label: Rare thyroid disease - 'Rare thyroid disease' SubClassOf 'group of disorders' + 'Rare thyroid disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117844 Label: paired-like homeodomain 3 - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' - 'paired-like homeodomain 3' SubClassOf 'gene' - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-glaucoma' + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'paired-like homeodomain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.32"^^http://www.w3.org/2001/XMLSchema#string + 'paired-like homeodomain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired-like homeodomain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_101954 Label: Rare adrenal disease - 'Rare adrenal disease' SubClassOf 'group of disorders' + 'Rare adrenal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101953 Label: Rare dyslipidemia - 'Rare dyslipidemia' SubClassOf 'group of disorders' + 'Rare dyslipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101952 Label: Rare diabetes mellitus - 'Rare diabetes mellitus' SubClassOf 'group of disorders' + 'Rare diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101950 Label: Rare eye tumor - 'Rare eye tumor' SubClassOf 'group of disorders' + 'Rare eye tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123115 Label: low density lipoprotein receptor-related protein 5 - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteosclerosis, Worth type' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteopetrosis type 1' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperostosis corticalis generalisata' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerosis-developmental delay-craniosynostosis syndrome' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteoporosis - pseudoglioma' - 'low density lipoprotein receptor-related protein 5' SubClassOf 'gene' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant osteosclerosis, Worth type' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteoporosis - pseudoglioma' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Autosomal dominant osteopetrosis type 1' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperostosis corticalis generalisata' + 'low density lipoprotein receptor-related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerosis-developmental delay-craniosynostosis syndrome' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' Class: http://www.orpha.net/ORDO/Orphanet_101949 Label: Rare acquired eye disease - 'Rare acquired eye disease' SubClassOf 'group of disorders' + 'Rare acquired eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_267365 Label: ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit - 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'gene' - 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123112 Label: lipoprotein lipase - 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial lipoprotein lipase deficiency' - 'lipoprotein lipase' SubClassOf 'gene' - 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipoprotein lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 5' + 'lipoprotein lipase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial lipoprotein lipase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_232171 Label: transmembrane protein 126A - 'transmembrane protein 126A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive optic atrophy, OPA7 type' - 'transmembrane protein 126A' SubClassOf 'gene' + 'transmembrane protein 126A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 126A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 126A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive optic atrophy, OPA7 type' Class: http://www.orpha.net/ORDO/Orphanet_101987 Label: Constitutional neutropenia - 'Constitutional neutropenia' SubClassOf 'group of disorders' + 'Constitutional neutropenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101988 Label: Primary immunodeficiency due to a defect in innate immunity - 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'group of disorders' + 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168816 Label: Peritoneal cystic mesothelioma - 'Peritoneal cystic mesothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Peritoneal cystic mesothelioma' SubClassOf 'disease' - 'Peritoneal cystic mesothelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Peritoneal cystic mesothelioma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' + 'Peritoneal cystic mesothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Peritoneal cystic mesothelioma' SubClassOf 'disease' + 'Peritoneal cystic mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Peritoneal cystic mesothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_117898 Label: promyelocytic leukemia - 'promyelocytic leukemia' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' - 'promyelocytic leukemia' SubClassOf 'gene' + 'promyelocytic leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'promyelocytic leukemia' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'promyelocytic leukemia' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_285739 Label: testis specific protein, Y-linked 1 - 'testis specific protein, Y-linked 1' SubClassOf 'Modifying germline mutation in' some 'Partial chromosome Y deletion' - 'testis specific protein, Y-linked 1' SubClassOf 'Role in the phenotype of' some '45,X/46,XY mixed gonadal dysgenesis' - 'testis specific protein, Y-linked 1' SubClassOf 'gene' + 'testis specific protein, Y-linked 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.2"^^http://www.w3.org/2001/XMLSchema#string + 'testis specific protein, Y-linked 1' SubClassOf 'Modifying germline mutation in' some 'Partial chromosome Y deletion' + 'testis specific protein, Y-linked 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_117892 Label: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf 'gene' - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bruck syndrome' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bruck syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90636 Label: Autosomal recessive non-syndromic sensorineural deafness type DFNB - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'etiological subtype' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'etiological subtype' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_117894 Label: proteolipid protein 1 - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia type 2' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, transitional form' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease in female carriers' - 'proteolipid protein 1' SubClassOf 'gene' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Null syndrome' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, connatal form' - 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, classic form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spastic paraplegia type 2' + 'proteolipid protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq22"^^http://www.w3.org/2001/XMLSchema#string + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, transitional form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease in female carriers' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Null syndrome' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, connatal form' + 'proteolipid protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher disease, classic form' + 'proteolipid protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90635 Label: Autosomal dominant non-syndromic sensorineural deafness type DFNA - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'etiological subtype' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119057 Label: bone morphogenetic protein receptor, type II (serine/threonine kinase) - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary venoocclusive disease' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'gene' - 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Heritable pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary arterial hypertension' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf 'Candidate gene tested in' some 'Pulmonary venoocclusive disease' + 'bone morphogenetic protein receptor, type II (serine/threonine kinase)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159298 Label: transient receptor potential cation channel, subfamily M, member 7 - 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' - 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'gene' + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transient receptor potential cation channel, subfamily M, member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119053 Label: bone morphogenetic protein receptor, type IB - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Grebe type' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' - 'bone morphogenetic protein receptor, type IB' SubClassOf 'gene' + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acromesomelic dysplasia, Grebe type' + 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type A2' + 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly type C' + 'bone morphogenetic protein receptor, type IB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q23-q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123109 Label: lipin 2 - 'lipin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Majeed syndrome' - 'lipin 2' SubClassOf 'gene' + 'lipin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p"^^http://www.w3.org/2001/XMLSchema#string + 'lipin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Majeed syndrome' + 'lipin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123102 Label: LIM homeobox transcription factor 1, beta - 'LIM homeobox transcription factor 1, beta' SubClassOf 'gene' - 'LIM homeobox transcription factor 1, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella syndrome' + 'LIM homeobox transcription factor 1, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella syndrome' + 'LIM homeobox transcription factor 1, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox transcription factor 1, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123105 Label: loricrin - 'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia' - 'loricrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans with ichthyosis' - 'loricrin' SubClassOf 'gene' + 'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia' + 'loricrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'loricrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'loricrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratoderma hereditarium mutilans with ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_90642 Label: Syndromic genetic deafness - 'Syndromic genetic deafness' SubClassOf 'group of disorders' + 'Syndromic genetic deafness' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101972 Label: Combined T and B cell immunodeficiency - 'Combined T and B cell immunodeficiency' SubClassOf 'group of disorders' + 'Combined T and B cell immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101977 Label: Immunodeficiency predominantly affecting antibody production - 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'group of disorders' + 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280200 Label: Microform holoprosencephaly - 'Microform holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microform holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Microform holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Microform holoprosencephaly' SubClassOf 'clinical subtype' + 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microform holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microform holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Microform holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Microform holoprosencephaly' SubClassOf 'clinical subtype' + 'Microform holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_90641 Label: Mitochondrial non-syndromic sensorineural deafness - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'etiological subtype' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'etiological subtype' + 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_168829 Label: Primary peritoneal carcinoma - 'Primary peritoneal carcinoma' SubClassOf 'disease' - 'Primary peritoneal carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary peritoneal carcinoma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' - 'Primary peritoneal carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary peritoneal carcinoma' SubClassOf 'disease' + 'Primary peritoneal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' + 'Primary peritoneal carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary peritoneal carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_232182 Label: dipeptidyl-peptidase 6 - 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant microcephaly' - 'dipeptidyl-peptidase 6' SubClassOf 'gene' - 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q36.2"^^http://www.w3.org/2001/XMLSchema#string + 'dipeptidyl-peptidase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic ventricular fibrillation, not Brugada type' + 'dipeptidyl-peptidase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_90647 Label: Jervell and Lange-Nielsen syndrome - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'part_of' some 'Familial long QT syndrome' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial long QT syndrome' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Jervell and Lange-Nielsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90646 Label: Deafness - hypogonadism - 'Deafness - hypogonadism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness - hypogonadism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Deafness - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label: breast cancer 1, early onset - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' - 'breast cancer 1, early onset' SubClassOf 'gene' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Primary peritoneal carcinoma' + 'breast cancer 1, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Primary peritoneal carcinoma' + 'breast cancer 1, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363396 Label: High myopia-sensorineural deafness syndrome - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic myopia' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'disease' - 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'High myopia-sensorineural deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'High myopia-sensorineural deafness syndrome' SubClassOf 'disease' + 'High myopia-sensorineural deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'High myopia-sensorineural deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119064 Label: 2,3-bisphosphoglycerate mutase - '2,3-bisphosphoglycerate mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' - '2,3-bisphosphoglycerate mutase' SubClassOf 'gene' + '2,3-bisphosphoglycerate mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' + '2,3-bisphosphoglycerate mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '2,3-bisphosphoglycerate mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119066 Label: B-Raf proto-oncogene, serine/threonine kinase - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hairy cell leukemia' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'gene' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiofaciocutaneous syndrome' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hashimoto-Pritzker syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hairy cell leukemia' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cardiofaciocutaneous syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilocytic astrocytoma' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hashimoto-Pritzker syndrome' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_117877 Label: plectin - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with muscular dystrophy' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Ogna type' - 'plectin' SubClassOf 'gene' - 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' + 'plectin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with muscular dystrophy' + 'plectin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex, Ogna type' + 'plectin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolysis bullosa simplex with pyloric atresia' Class: http://www.orpha.net/ORDO/Orphanet_280210 Label: Pelizaeus-Merzbacher disease, connatal form - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_232194 Label: alanyl-tRNA synthetase - 'alanyl-tRNA synthetase' SubClassOf 'gene' - 'alanyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' + 'alanyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' + 'alanyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324972 Label: MAGIC syndrome - 'MAGIC syndrome' SubClassOf 'disease' - 'MAGIC syndrome' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' + 'MAGIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' + 'MAGIC syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324977 Label: Proteasome disability syndrome - 'Proteasome disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Proteasome disability syndrome' SubClassOf 'disease' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Proteasome disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Proteasome disability syndrome' SubClassOf 'disease' + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proteasome disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proteasome disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proteasome disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_117871 Label: plakophilin 2 - 'plakophilin 2' SubClassOf 'gene' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'plakophilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plakophilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11"^^http://www.w3.org/2001/XMLSchema#string + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_117873 Label: phospholipase A2, group VI (cytosolic, calcium-independent) - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset dystonia-parkinsonism' - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'gene' - 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile neuroaxonal dystrophy' + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset dystonia-parkinsonism' + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase A2, group VI (cytosolic, calcium-independent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile neuroaxonal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label: breast cancer 2, early onset - 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' - 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' - 'breast cancer 2, early onset' SubClassOf 'gene' + 'breast cancer 2, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'breast cancer 2, early onset' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' + 'breast cancer 2, early onset' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary site-specific ovarian cancer syndrome' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast and ovarian cancer syndrome' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_280205 Label: Laryngo-tracheo-esophageal cleft type 0 - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'clinical subtype' - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'part_of' some 'Laryngo-tracheo-esophageal cleft' - 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'has_prevalence' some 'Unknown' + 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf 'clinical subtype' + 'Laryngo-tracheo-esophageal cleft type 0' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Laryngo-tracheo-esophageal cleft' Class: http://www.orpha.net/ORDO/Orphanet_168803 Label: Primary peritoneal tumor - 'Primary peritoneal tumor' SubClassOf 'group of disorders' + 'Primary peritoneal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101997 Label: Primary immunodeficiency - 'Primary immunodeficiency' SubClassOf 'group of disorders' + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf 'group of disorders' + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.84"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_168807 Label: Primary malignant peritoneal tumor - 'Primary malignant peritoneal tumor' SubClassOf 'group of disorders' + 'Primary malignant peritoneal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_117888 Label: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic type' - 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'gene' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, kyphoscoliotic type' + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101998 Label: Rare epilepsy - 'Rare epilepsy' SubClassOf 'group of disorders' + 'Rare epilepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101995 Label: Periodic fever syndrome - 'Periodic fever syndrome' SubClassOf 'group of disorders' + 'Periodic fever syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90625 Label: X-linked non-syndromic sensorineural deafness type DFN - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'part_of' some 'Prelingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prelingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_319675 Label: Microcephalic primordial dwarfism, Dauber type - 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Dauber type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_117882 Label: pleckstrin homology domain containing, family G (with RhoGef domain) member 4 - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Candidate gene tested in' some 'Spinocerebellar ataxia type 4' - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'gene' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Candidate gene tested in' some 'Spinocerebellar ataxia type 4' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_101992 Label: Immunodeficiency due to a complement cascade protein anomaly - 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'group of disorders' + 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324964 Label: Chronic recurrent multifocal osteomyelitis - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'disease' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Chronic recurrent multifocal osteomyelitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_319678 Label: Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117886 Label: plasminogen - 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ligneous conjunctivitis' - 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplasminogenemia' - 'plasminogen' SubClassOf 'gene' + 'plasminogen' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plasminogen' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q26"^^http://www.w3.org/2001/XMLSchema#string + 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ligneous conjunctivitis' + 'plasminogen' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplasminogenemia' Class: http://www.orpha.net/ORDO/Orphanet_119085 Label: Berardinelli-Seip congenital lipodystrophy 2 (seipin) - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodegenerative syndrome with lipodystrophy' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'gene' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 17' - 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodegenerative syndrome with lipodystrophy' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 17' + 'Berardinelli-Seip congenital lipodystrophy 2 (seipin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_319671 Label: Microcephalic primordial dwarfism, Alazami type - 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'malformation syndrome' - 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Alazami type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_119089 Label: barttin CLCNK-type chloride channel accessory beta subunit - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'gene' - 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'barttin CLCNK-type chloride channel accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' Class: http://www.orpha.net/ORDO/Orphanet_280219 Label: Pelizaeus-Merzbacher disease, classic form - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_168811 Label: Malignant peritoneal mesothelioma - 'Malignant peritoneal mesothelioma' SubClassOf 'disease' - 'Malignant peritoneal mesothelioma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf 'disease' + 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant peritoneal mesothelioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant peritoneal mesothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary malignant peritoneal tumor' + 'Malignant peritoneal mesothelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_254504 Label: Inhalational botulism - 'Inhalational botulism' SubClassOf 'part_of' some 'Botulism' - 'Inhalational botulism' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Inhalational botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inhalational botulism' SubClassOf 'clinical subtype' + 'Inhalational botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Inhalational botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inhalational botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' + 'Inhalational botulism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119080 Label: BRCA1 interacting protein C-terminal helicase 1 - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'gene' - 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BRCA1 interacting protein C-terminal helicase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' Class: http://www.orpha.net/ORDO/Orphanet_180151 Label: Rare vaginal malformation - 'Rare vaginal malformation' SubClassOf 'group of disorders' + 'Rare vaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377025 Label: cyclin-dependent kinase 6 - 'cyclin-dependent kinase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'cyclin-dependent kinase 6' SubClassOf 'gene' + 'cyclin-dependent kinase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' Class: http://www.orpha.net/ORDO/Orphanet_3380 Label: Trisomy 18 - 'Trisomy 18' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 18' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 18' SubClassOf 'part_of' some 'Eyebrow hypertrophy' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Trisomy 18' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Trisomy 18' SubClassOf 'malformation syndrome' - 'Trisomy 18' SubClassOf 'part_of' some 'Total autosomal trisomy' - 'Trisomy 18' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Trisomy 18' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow hypertrophy' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "48.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "38.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 18' SubClassOf 'malformation syndrome' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Trisomy 18' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295163 Label: Postaxial polydactyly type A, unilateral - 'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype' - 'Postaxial polydactyly type A, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_180154 Label: Septate vagina - 'Septate vagina' SubClassOf 'part_of' some 'Rare vaginal malformation' - 'Septate vagina' SubClassOf 'morphological anomaly' + 'Septate vagina' SubClassOf 'morphological anomaly' + 'Septate vagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_324569 Label: Pontocerebellar hypoplasia type 8 - 'Pontocerebellar hypoplasia type 8' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 8' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 8' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 8' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295161 Label: Polysyndactyly, bilateral - 'Polysyndactyly, bilateral' SubClassOf 'part_of' some 'Polysyndactyly' - 'Polysyndactyly, bilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysyndactyly' + 'Polysyndactyly, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295167 Label: Postaxial polydactyly type B, unilateral - 'Postaxial polydactyly type B, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B' - 'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type B, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type B' + 'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295165 Label: Postaxial polydactyly type A, bilateral - 'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype' - 'Postaxial polydactyly type A, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A' + 'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type A, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type A' Class: http://www.orpha.net/ORDO/Orphanet_324561 Label: Hypopigmentation-punctate palmoplantar keratoderma syndrome - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295169 Label: Postaxial polydactyly type B, bilateral - 'Postaxial polydactyly type B, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B' - 'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly type B, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly type B' + 'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376411 Label: vacuolar protein sorting 45 homolog (S. cerevisiae) - 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'gene' - 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections-myelofibrosis-nephromegaly syndrome' + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vacuolar protein sorting 45 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infections-myelofibrosis-nephromegaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1248 Label: Maxillonasal dysplasia - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Maxillonasal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Maxillonasal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Maxillonasal dysplasia' SubClassOf 'malformation syndrome' - 'Maxillonasal dysplasia' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Maxillonasal dysplasia' SubClassOf 'malformation syndrome' + 'Maxillonasal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Maxillonasal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_217093 Label: Mucopolysaccharidosis type 2, attenuated form - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 2' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 2' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1249 Label: Binswanger disease - 'Binswanger disease' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Binswanger disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Binswanger disease' SubClassOf 'part_of' some 'Cerebrovascular dementia' - 'Binswanger disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Binswanger disease' SubClassOf 'disease' + 'Binswanger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Binswanger disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Binswanger disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Binswanger disease' SubClassOf 'disease' + 'Binswanger disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrovascular dementia' Class: http://www.orpha.net/ORDO/Orphanet_122300 Label: glutathione synthetase - 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency with 5-oxoprolinuria' - 'glutathione synthetase' SubClassOf 'gene' - 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency without 5-oxoprolinuria' + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Glutathione synthetase deficiency with 5-oxoprolinuria' + 'glutathione synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutathione synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutathione synthetase deficiency without 5-oxoprolinuria' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label: Tuberculosis - 'Tuberculosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Tuberculosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' - 'Tuberculosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tuberculosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Tuberculosis' SubClassOf 'disease' - 'Tuberculosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C032 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C032 value "47.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C032 value "23.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C032 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "139.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C032 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409996) and (http://www.orpha.net/ORDO/Orphanet_C032 value "90.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C032 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "75.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C032 value "993.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C032 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C032 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf 'disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C032 value "181.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410119) and (http://www.orpha.net/ORDO/Orphanet_C032 value "59.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C032 value "89.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C032 value "97.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C032 value "10.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C032 value "49.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C032 value "101.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency secondary to a granulomatous disease' + 'Tuberculosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_168778 Label: Rare pervasive developmental disorder - 'Rare pervasive developmental disorder' SubClassOf 'group of disorders' + 'Rare pervasive developmental disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399882 Label: Female infertility due to an implantation defect - 'Female infertility due to an implantation defect' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_320401 Label: Autosomal recessive spastic paraplegia type 44 - 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 44' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_122302 Label: general transcription factor IIH, polypeptide 5 - 'general transcription factor IIH, polypeptide 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' - 'general transcription factor IIH, polypeptide 5' SubClassOf 'gene' + 'general transcription factor IIH, polypeptide 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'general transcription factor IIH, polypeptide 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'general transcription factor IIH, polypeptide 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1246 Label: Brachydactyly - nystagmus - cerebellar ataxia - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1247 Label: Schistosomiasis - 'Schistosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Schistosomiasis' SubClassOf 'disease' - 'Schistosomiasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schistosomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Schistosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Schistosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Schistosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schistosomiasis' SubClassOf 'disease' + 'Schistosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) + 'Schistosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Schistosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_3383 Label: Humerus trochlea aplasia - 'Humerus trochlea aplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Humerus trochlea aplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Humerus trochlea aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1240 Label: Metaphyseal acroscyphodysplasia - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'disease' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Metaphyseal acroscyphodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metaphyseal acroscyphodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal acroscyphodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal acroscyphodysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3384 Label: Truncus arteriosus - 'Truncus arteriosus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Truncus arteriosus' SubClassOf 'morphological anomaly' - 'Truncus arteriosus' SubClassOf 'part_of' some 'Conotruncal heart malformations' - 'Truncus arteriosus' SubClassOf 'has_prevalence' some 'Unknown' - 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'morphological anomaly' + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Truncus arteriosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Truncus arteriosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1241 Label: Bencze syndrome - 'Bencze syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Bencze syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Bencze syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bencze syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Bencze syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Bencze syndrome' SubClassOf 'malformation syndrome' - 'Bencze syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Bencze syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Bencze syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bencze syndrome' SubClassOf 'malformation syndrome' + 'Bencze syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_180148 Label: Syndromic uterovaginal malformation - 'Syndromic uterovaginal malformation' SubClassOf 'group of disorders' + 'Syndromic uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180145 Label: Uterine cervical aplasia and agenesis - 'Uterine cervical aplasia and agenesis' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Uterine cervical aplasia and agenesis' SubClassOf 'morphological anomaly' - 'Uterine cervical aplasia and agenesis' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' + 'Uterine cervical aplasia and agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' + 'Uterine cervical aplasia and agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1243 Label: Best vitelliform macular dystrophy - 'Best vitelliform macular dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Best vitelliform macular dystrophy' SubClassOf 'part_of' some 'Genetic macular dystrophy' - 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Best vitelliform macular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Best vitelliform macular dystrophy' SubClassOf 'disease' + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Best vitelliform macular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic macular dystrophy' + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Best vitelliform macular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Best vitelliform macular dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3387 Label: Isolated anterior cervical hypertrichosis - 'Isolated anterior cervical hypertrichosis' SubClassOf 'disease' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'part_of' some 'Hypertrichosis' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated anterior cervical hypertrichosis' SubClassOf 'disease' + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated anterior cervical hypertrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated anterior cervical hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Isolated anterior cervical hypertrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3388 Label: Neural tube defect - 'Neural tube defect' SubClassOf 'group of disorders' + 'Neural tube defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_392281 Label: tyrosine kinase, non-receptor, 2 - 'tyrosine kinase, non-receptor, 2' SubClassOf 'gene' - 'tyrosine kinase, non-receptor, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' + 'tyrosine kinase, non-receptor, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosine kinase, non-receptor, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' + 'tyrosine kinase, non-receptor, 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3385 Label: African trypanosomiasis - 'African trypanosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'African trypanosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'African trypanosomiasis' SubClassOf 'disease' - 'African trypanosomiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'African trypanosomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'African trypanosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'African trypanosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'African trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'African trypanosomiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3386 Label: American trypanosomiasis - 'American trypanosomiasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'American trypanosomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'American trypanosomiasis' SubClassOf 'disease' - 'American trypanosomiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'American trypanosomiasis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'American trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'American trypanosomiasis' SubClassOf 'disease' + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'American trypanosomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'American trypanosomiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "95.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_180142 Label: Agenesis and aplasia of uterine body - 'Agenesis and aplasia of uterine body' SubClassOf 'part_of' some 'Female infertility due to an implantation defect' - 'Agenesis and aplasia of uterine body' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' - 'Agenesis and aplasia of uterine body' SubClassOf 'morphological anomaly' + 'Agenesis and aplasia of uterine body' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' + 'Agenesis and aplasia of uterine body' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to an implantation defect' + 'Agenesis and aplasia of uterine body' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295171 Label: Central polydactyly of fingers, unilateral - 'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype' - 'Central polydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3390 Label: Proximal tubulopathy - diabetes mellitus - cerebellar ataxia - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_295173 Label: Central polydactyly of fingers, bilateral - 'Central polydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers' - 'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of fingers' + 'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295175 Label: Preaxial polydactyly of toes, unilateral - 'Preaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' - 'Preaxial polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Preaxial polydactyly of toes' + 'Preaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Preaxial polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_280293 Label: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_prevalence' some 'Unknown' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324575 Label: Hyperinsulinism due to HNF1A deficiency - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Hyperinsulinism due to HNF1A deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320406 Label: Spastic paraplegia-optic atrophy-neuropathy syndrome - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'disease' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'disease' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_295177 Label: Preaxial polydactyly of toes, bilateral - 'Preaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Preaxial polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Preaxial polydactyly of toes' + 'Preaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Preaxial polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295179 Label: Postaxial polydactyly of toes, unilateral - 'Postaxial polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly of toes' - 'Postaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of toes' + 'Postaxial polydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376401 Label: trafficking protein particle complex 11 - 'trafficking protein particle complex 11' SubClassOf 'gene' - 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' - 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2S' + 'trafficking protein particle complex 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2S' + 'trafficking protein particle complex 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' + 'trafficking protein particle complex 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_392296 Label: sideroflexin 4 - 'sideroflexin 4' SubClassOf 'gene' - 'sideroflexin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sideroflexin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_320411 Label: Autosomal recessive spastic paraplegia type 56 - 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 56' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1259 Label: Blepharoptosis - myopia - ectopia lentis - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'part_of' some 'Lens position anomaly' - 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'disease' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens position anomaly' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'disease' + 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122310 Label: general transcription factor IIi - 'general transcription factor IIi' SubClassOf 'gene' - 'general transcription factor IIi' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'general transcription factor IIi' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'general transcription factor IIi' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'general transcription factor IIi' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1258 Label: Blepharoptosis - cleft palate - ectrodactyly - dental anomalies - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'malformation syndrome' - 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'malformation syndrome' + 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_1256 Label: Blepharophimosis - radioulnar synostosis - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'part_of' some 'Ptosis' - 'Blepharophimosis - radioulnar synostosis' SubClassOf 'malformation syndrome' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Blepharophimosis - radioulnar synostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217085 Label: Mucopolysaccharidosis type 2, severe form - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_prevalence' some 'Unknown' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 2' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Mucopolysaccharidosis type 2, severe form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 2' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_3392 Label: Tularemia - 'Tularemia' SubClassOf 'disease' - 'Tularemia' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Tularemia' SubClassOf 'disease' + 'Tularemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_1253 Label: Ascher syndrome - 'Ascher syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ascher syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ascher syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ascher syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ascher syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ascher syndrome' SubClassOf 'malformation syndrome' - 'Ascher syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ascher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ascher syndrome' SubClassOf 'malformation syndrome' + 'Ascher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ascher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_180134 Label: Bicornuate uterus - 'Bicornuate uterus' SubClassOf 'group of disorders' + 'Bicornuate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399877 Label: Female infertility due to gonadal dysgenesis - 'Female infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' + 'Female infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3394 Label: Soft tissue sarcoma - 'Soft tissue sarcoma' SubClassOf 'group of disorders' + 'Soft tissue sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Soft tissue sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Soft tissue sarcoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1252 Label: Blepharonasofacial malformation syndrome - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'malformation syndrome' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharonasofacial malformation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharonasofacial malformation syndrome' SubClassOf 'malformation syndrome' + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blepharonasofacial malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_180139 Label: Uterine hypoplasia - 'Uterine hypoplasia' SubClassOf 'morphological anomaly' - 'Uterine hypoplasia' SubClassOf 'part_of' some 'Non-syndromic uterovaginal malformation' + 'Uterine hypoplasia' SubClassOf 'morphological anomaly' + 'Uterine hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_392290 Label: plastin 3 - 'plastin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked osteoporosis with fractures' - 'plastin 3' SubClassOf 'gene' + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked osteoporosis with fractures' + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plastin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3398 Label: Thymic epithelial neoplasm - 'Thymic epithelial neoplasm' SubClassOf 'has_prevalence' some 'Unknown' - 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some 'sporadic' - 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Thymic epithelial neoplasm' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Thymic epithelial neoplasm' SubClassOf 'group of disorders' + 'Thymic epithelial neoplasm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thymic epithelial neoplasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymic epithelial neoplasm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thymic epithelial neoplasm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Thymic epithelial neoplasm' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3399 Label: Germ cell tumor - 'Germ cell tumor' SubClassOf 'group of disorders' + 'Germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295185 Label: Central polydactyly of toes, bilateral - 'Central polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Central polydactyly of toes' - 'Central polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295183 Label: Central polydactyly of toes, unilateral - 'Central polydactyly of toes, unilateral' SubClassOf 'part_of' some 'Central polydactyly of toes' - 'Central polydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Central polydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central polydactyly of toes' + 'Central polydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295181 Label: Postaxial polydactyly of toes, bilateral - 'Postaxial polydactyly of toes, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly of toes' - 'Postaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Postaxial polydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of toes' + 'Postaxial polydactyly of toes, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_377040 Label: protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A - 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' - 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf 'gene' + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital fiber-type disproportion myopathy' + 'protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p14-p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280288 Label: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_325713 Label: Genetic 46,XY disorder of sex development of endocrine origin - 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' + 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324540 Label: Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'malformation syndrome' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'malformation syndrome' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295189 Label: Zygodactyly type 2 - 'Zygodactyly type 2' SubClassOf 'part_of' some 'Syndactyly type 1' - 'Zygodactyly type 2' SubClassOf 'clinical subtype' + 'Zygodactyly type 2' SubClassOf 'clinical subtype' + 'Zygodactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_280282 Label: Pelizaeus-Merzbacher-like disease due to GJC2 mutation - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122319 Label: GTF2I repeat domain containing 1 - 'GTF2I repeat domain containing 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' - 'GTF2I repeat domain containing 1' SubClassOf 'gene' + 'GTF2I repeat domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'GTF2I repeat domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GTF2I repeat domain containing 1' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_229720 Label: Syndromic agammaglobulinemia - 'Syndromic agammaglobulinemia' SubClassOf 'group of disorders' + 'Syndromic agammaglobulinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295187 Label: Zygodactyly type 1 - 'Zygodactyly type 1' SubClassOf 'part_of' some 'Syndactyly type 1' - 'Zygodactyly type 1' SubClassOf 'clinical subtype' + 'Zygodactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' + 'Zygodactyly type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_401597 Label: TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa - 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' - 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'gene' + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.1"^^http://www.w3.org/2001/XMLSchema#string + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1223 Label: Balantidiasis - 'Balantidiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Balantidiasis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Balantidiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Balantidiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Balantidiasis' SubClassOf 'disease' + 'Balantidiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Balantidiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Balantidiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Balantidiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217074 Label: Pancreatic carcinoma - 'Pancreatic carcinoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic tumor' - 'Pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pancreatic carcinoma' SubClassOf 'disease' - 'Pancreatic carcinoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Pancreatic carcinoma' SubClassOf 'disease' + 'Pancreatic carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_168796 Label: Heart-hand syndrome, Slovenian type - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Heart-hand syndrome, Slovenian type' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome, Slovenian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Heart-hand syndrome, Slovenian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Heart-hand syndrome, Slovenian type' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome, Slovenian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35909 Label: Combined deficiency of factor V and factor VIII - 'Combined deficiency of factor V and factor VIII' SubClassOf 'disease' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' - 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Combined deficiency of factor V and factor VIII' SubClassOf 'disease' + 'Combined deficiency of factor V and factor VIII' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined deficiency of factor V and factor VIII' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Combined deficiency of factor V and factor VIII' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Combined deficiency of factor V and factor VIII' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_1225 Label: Baller-Gerold syndrome - 'Baller-Gerold syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Baller-Gerold syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Baller-Gerold syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Baller-Gerold syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Baller-Gerold syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Baller-Gerold syndrome' SubClassOf 'malformation syndrome' + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Baller-Gerold syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Baller-Gerold syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Baller-Gerold syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Baller-Gerold syndrome' SubClassOf 'malformation syndrome' + 'Baller-Gerold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_3369 Label: Trigonocephaly - short stature - developmental delay - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' + 'Trigonocephaly - short stature - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Trigonocephaly - short stature - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1226 Label: Bamforth-Lazarus syndrome - 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bamforth-Lazarus syndrome' SubClassOf 'malformation syndrome' - 'Bamforth-Lazarus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bamforth-Lazarus syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Bamforth-Lazarus syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Bamforth-Lazarus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bamforth-Lazarus syndrome' SubClassOf 'malformation syndrome' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bamforth-Lazarus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Bamforth-Lazarus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Bamforth-Lazarus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_217071 Label: Non-familial renal cell carcinoma - 'Non-familial renal cell carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Non-familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Non-familial renal cell carcinoma' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Non-familial renal cell carcinoma' SubClassOf 'part_of' some 'Rare renal tumor' - 'Non-familial renal cell carcinoma' SubClassOf 'disease' + 'Non-familial renal cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-familial renal cell carcinoma' SubClassOf 'disease' + 'Non-familial renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tumor' + 'Non-familial renal cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Non-familial renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1227 Label: Bangstad syndrome - 'Bangstad syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Bangstad syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bangstad syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bangstad syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bangstad syndrome' SubClassOf 'malformation syndrome' - 'Bangstad syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' + 'Bangstad syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bangstad syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bangstad syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bangstad syndrome' SubClassOf 'malformation syndrome' + 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_1228 Label: Banki syndrome - 'Banki syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Banki syndrome' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' - 'Banki syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Banki syndrome' SubClassOf 'malformation syndrome' - 'Banki syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Banki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Banki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with synostosis or other joint formation defect' + 'Banki syndrome' SubClassOf 'malformation syndrome' + 'Banki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Banki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3368 Label: Trigonocephaly - bifid nose - acral anomalies - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'malformation syndrome' - 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1229 Label: Congenital intrauterine infection-like syndrome - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'malformation syndrome' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital intrauterine infection-like syndrome' SubClassOf 'malformation syndrome' + 'Congenital intrauterine infection-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Congenital intrauterine infection-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3365 Label: Trigonocephaly - broad thumbs - 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trigonocephaly - broad thumbs' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Trigonocephaly - broad thumbs' SubClassOf 'malformation syndrome' - 'Trigonocephaly - broad thumbs' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trigonocephaly - broad thumbs' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trigonocephaly - broad thumbs' SubClassOf 'malformation syndrome' + 'Trigonocephaly - broad thumbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trigonocephaly - broad thumbs' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trigonocephaly - broad thumbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Trigonocephaly - broad thumbs' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180129 Label: Subtotal septate uterus - 'Subtotal septate uterus' SubClassOf 'morphological anomaly' - 'Subtotal septate uterus' SubClassOf 'part_of' some 'Septate uterus' + 'Subtotal septate uterus' SubClassOf 'morphological anomaly' + 'Subtotal septate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_3366 Label: Isolated trigonocephaly - 'Isolated trigonocephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated trigonocephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated trigonocephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated trigonocephaly' SubClassOf 'morphological anomaly' + 'Isolated trigonocephaly' SubClassOf 'morphological anomaly' + 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated trigonocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated trigonocephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated trigonocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3363 Label: Trichomegaly - retina pigmentary degeneration - dwarfism - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'malformation syndrome' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'malformation syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3361 Label: Trichodysplasia - xeroderma - 'Trichodysplasia - xeroderma' SubClassOf 'malformation syndrome' - 'Trichodysplasia - xeroderma' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' + 'Trichodysplasia - xeroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hair shaft abnormality' + 'Trichodysplasia - xeroderma' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3362 Label: Trichomegaly - cataract - hereditary spherocytosis - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'malformation syndrome' - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'malformation syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf 'obsolete_class' + 'Trichomegaly - cataract - hereditary spherocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180126 Label: Total septate uterus - 'Total septate uterus' SubClassOf 'part_of' some 'Septate uterus' - 'Total septate uterus' SubClassOf 'morphological anomaly' + 'Total septate uterus' SubClassOf 'morphological anomaly' + 'Total septate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate uterus' Class: http://www.orpha.net/ORDO/Orphanet_1221 Label: Cheilitis glandularis - 'Cheilitis glandularis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cheilitis glandularis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cheilitis glandularis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Cheilitis glandularis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cheilitis glandularis' SubClassOf 'disease' + 'Cheilitis glandularis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cheilitis glandularis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cheilitis glandularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Cheilitis glandularis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295193 Label: Zygodactyly type 4 - 'Zygodactyly type 4' SubClassOf 'clinical subtype' - 'Zygodactyly type 4' SubClassOf 'part_of' some 'Syndactyly type 1' + 'Zygodactyly type 4' SubClassOf 'clinical subtype' + 'Zygodactyly type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_180122 Label: Septate uterus - 'Septate uterus' SubClassOf 'group of disorders' + 'Septate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295195 Label: Synpolydactyly type 1 - 'Synpolydactyly type 1' SubClassOf 'clinical subtype' - 'Synpolydactyly type 1' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' + 'Synpolydactyly type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295191 Label: Zygodactyly type 3 - 'Zygodactyly type 3' SubClassOf 'clinical subtype' - 'Zygodactyly type 3' SubClassOf 'part_of' some 'Syndactyly type 1' + 'Zygodactyly type 3' SubClassOf 'clinical subtype' + 'Zygodactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 1' Class: http://www.orpha.net/ORDO/Orphanet_295197 Label: Synpolydactyly type 2 - 'Synpolydactyly type 2' SubClassOf 'clinical subtype' - 'Synpolydactyly type 2' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' + 'Synpolydactyly type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295199 Label: Synpolydactyly type 3 - 'Synpolydactyly type 3' SubClassOf 'clinical subtype' - 'Synpolydactyly type 3' SubClassOf 'part_of' some 'Syndactyly type 2' + 'Synpolydactyly type 3' SubClassOf 'clinical subtype' + 'Synpolydactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly type 2' Class: http://www.orpha.net/ORDO/Orphanet_280270 Label: Pelizaeus-Merzbacher-like disease - 'Pelizaeus-Merzbacher-like disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Pelizaeus-Merzbacher-like disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher-like disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher-like disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_217064 Label: 5-fluorouracil poisoning - '5-fluorouracil poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - '5-fluorouracil poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' - '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + '5-fluorouracil poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' + '5-fluorouracil poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1234 Label: Bartsocas-Papas syndrome - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'malformation syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'part_of' some 'Popliteal pterygium syndrome' - 'Bartsocas-Papas syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'malformation syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bartsocas-Papas syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Bartsocas-Papas syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Bartsocas-Papas syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Popliteal pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3378 Label: Trisomy 13 - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Trisomy 13' SubClassOf 'part_of' some 'Congenital vitreoretinal dysplasia' - 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Trisomy 13' SubClassOf 'malformation syndrome' - 'Trisomy 13' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy 13' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Trisomy 13' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Trisomy 13' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Trisomy 13' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vitreoretinal dysplasia' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Trisomy 13' SubClassOf 'malformation syndrome' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Trisomy 13' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' + 'Trisomy 13' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1239 Label: Behr syndrome - 'Behr syndrome' SubClassOf 'malformation syndrome' - 'Behr syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Behr syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Behr syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Behr syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Behr syndrome' SubClassOf 'malformation syndrome' + 'Behr syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Behr syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Behr syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_3379 Label: Distal trisomy 17q - 'Distal trisomy 17q' SubClassOf 'malformation syndrome' - 'Distal trisomy 17q' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 17' + 'Distal trisomy 17q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 17' + 'Distal trisomy 17q' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1237 Label: Beemer-Ertbruggen syndrome - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beemer-Ertbruggen syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Beemer-Ertbruggen syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Beemer-Ertbruggen syndrome' SubClassOf 'malformation syndrome' - 'Beemer-Ertbruggen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Beemer-Ertbruggen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beemer-Ertbruggen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Beemer-Ertbruggen syndrome' SubClassOf 'malformation syndrome' + 'Beemer-Ertbruggen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Beemer-Ertbruggen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122333 Label: guanylate cyclase activator 1A (retina) - 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'guanylate cyclase activator 1A (retina)' SubClassOf 'gene' + 'guanylate cyclase activator 1A (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'guanylate cyclase activator 1A (retina)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'guanylate cyclase activator 1A (retina)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3375 Label: Trisomy X - 'Trisomy X' SubClassOf 'malformation syndrome' - 'Trisomy X' SubClassOf 'has_inheritance' some 'sporadic' - 'Trisomy X' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Trisomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trisomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Trisomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Trisomy X' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Trisomy X' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf 'malformation syndrome' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Trisomy X' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Trisomy X' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Trisomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Trisomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3376 Label: Triploidy - 'Triploidy' SubClassOf 'has_prevalence' some 'Unknown' - 'Triploidy' SubClassOf 'has_inheritance' some 'sporadic' - 'Triploidy' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' - 'Triploidy' SubClassOf 'part_of' some 'Polyploidy' - 'Triploidy' SubClassOf 'malformation syndrome' - 'Triploidy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Triploidy' SubClassOf 'part_of' some 'Syndromic obesity' + 'Triploidy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with cataract' + 'Triploidy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Triploidy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Triploidy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyploidy' + 'Triploidy' SubClassOf 'malformation syndrome' + 'Triploidy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_180118 Label: Cordiform uterus - 'Cordiform uterus' SubClassOf 'part_of' some 'Unicervical bicornuate uterus' - 'Cordiform uterus' SubClassOf 'morphological anomaly' + 'Cordiform uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unicervical bicornuate uterus' + 'Cordiform uterus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3377 Label: Trismus - pseudocamptodactyly - 'Trismus - pseudocamptodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Trismus - pseudocamptodactyly' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Trismus - pseudocamptodactyly' SubClassOf 'malformation syndrome' - 'Trismus - pseudocamptodactyly' SubClassOf 'has_prevalence' some 'Unknown' + 'Trismus - pseudocamptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Trismus - pseudocamptodactyly' SubClassOf 'malformation syndrome' + 'Trismus - pseudocamptodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Trismus - pseudocamptodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1231 Label: Barber-Say syndrome - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Secondary ectropion' - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Barber-Say syndrome' SubClassOf 'malformation syndrome' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Barber-Say syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Barber-Say syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Microblepharon - ablephara' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Hypertrichosis' - 'Barber-Say syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Barber-Say syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Barber-Say syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microblepharon - ablephara' + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Barber-Say syndrome' SubClassOf 'malformation syndrome' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Barber-Say syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Barber-Say syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_168782 Label: Childhood disintegrative disorder - 'Childhood disintegrative disorder' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Childhood disintegrative disorder' SubClassOf 'part_of' some 'Rare pervasive developmental disorder' - 'Childhood disintegrative disorder' SubClassOf 'disease' + 'Childhood disintegrative disorder' SubClassOf 'disease' + 'Childhood disintegrative disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Childhood disintegrative disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pervasive developmental disorder' Class: http://www.orpha.net/ORDO/Orphanet_180114 Label: Unicervical bicornuate uterus - 'Unicervical bicornuate uterus' SubClassOf 'group of disorders' + 'Unicervical bicornuate uterus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229784 Label: RAD51 paralog C - 'RAD51 paralog C' SubClassOf 'gene' - 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 paralog C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD51 paralog C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia' + 'RAD51 paralog C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_229787 Label: polynucleotide kinase 3'-phosphatase - 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'polynucleotide kinase 3'-phosphatase' SubClassOf 'gene' + 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'polynucleotide kinase 3'-phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3-q13.4"^^http://www.w3.org/2001/XMLSchema#string + 'polynucleotide kinase 3'-phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_377069 Label: plexin D1 - 'plexin D1' SubClassOf 'gene' - 'plexin D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' + 'plexin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'plexin D1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'plexin D1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' Class: http://www.orpha.net/ORDO/Orphanet_180111 Label: Bicervical bicornuate uterus with patent cervix and vagina - 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'clinical subtype' - 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'part_of' some 'Didelphys uterus' + 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus with patent cervix and vagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_399839 Label: Rare female infertility due to a congenital hypogonadotropic hypogonadism - 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324525 Label: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_50839 Label: Cat-scratch disease - 'Cat-scratch disease' SubClassOf 'disease' - 'Cat-scratch disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cat-scratch disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Cat-scratch disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Cat-scratch disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Cat-scratch disease' SubClassOf 'disease' + 'Cat-scratch disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cat-scratch disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cat-scratch disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Cat-scratch disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_206436 Label: Infantile Krabbe disease - 'Infantile Krabbe disease' SubClassOf 'clinical subtype' - 'Infantile Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' + 'Infantile Krabbe disease' SubClassOf 'clinical subtype' + 'Infantile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_50838 Label: Carpal tunnel syndrome - 'Carpal tunnel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399846 Label: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism - 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180106 Label: Bicervical bicornuate uterus and blind hemivagina - 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'part_of' some 'Didelphys uterus' - 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf 'clinical subtype' + 'Bicervical bicornuate uterus and blind hemivagina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Didelphys uterus' Class: http://www.orpha.net/ORDO/Orphanet_159600 Label: forkhead box H1 - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'forkhead box H1' SubClassOf 'gene' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'forkhead box H1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'forkhead box H1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'forkhead box H1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_97 Label: Familial paroxysmal ataxia - 'Familial paroxysmal ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial paroxysmal ataxia' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Familial paroxysmal ataxia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial paroxysmal ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial paroxysmal ataxia' SubClassOf 'disease' + 'Familial paroxysmal ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial paroxysmal ataxia' SubClassOf 'disease' + 'Familial paroxysmal ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' + 'Familial paroxysmal ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Familial paroxysmal ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_96 Label: Ataxia with vitamin E deficiency - 'Ataxia with vitamin E deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Ataxia with vitamin E deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ataxia with vitamin E deficiency' SubClassOf 'disease' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Ataxia with vitamin E deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Ataxia with vitamin E deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Ataxia with vitamin E deficiency' SubClassOf 'disease' + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Ataxia with vitamin E deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia with vitamin E deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Ataxia with vitamin E deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_99 Label: Autosomal dominant cerebellar ataxia - 'Autosomal dominant cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_229796 Label: adenomatosis polyposis coli down-regulated 1 - 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' - 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'gene' + 'adenomatosis polyposis coli down-regulated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'adenomatosis polyposis coli down-regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'adenomatosis polyposis coli down-regulated 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98 Label: Autosomal recessive spastic ataxia of Charlevoix-Saguenay - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'disease' - 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_324530 Label: Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98908 Label: Neutral lipid storage myopathy - 'Neutral lipid storage myopathy' SubClassOf 'part_of' some 'Neutral lipid storage disease' - 'Neutral lipid storage myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neutral lipid storage myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neutral lipid storage myopathy' SubClassOf 'disease' + 'Neutral lipid storage myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neutral lipid storage disease' + 'Neutral lipid storage myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neutral lipid storage myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neutral lipid storage myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93 Label: Aspartylglucosaminuria - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Aspartylglucosaminuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Aspartylglucosaminuria' SubClassOf 'disease' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Lysosomal disease with epilepsy' - 'Aspartylglucosaminuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aspartylglucosaminuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Aspartylglucosaminuria' SubClassOf 'part_of' some 'Oligosaccharidosis' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Aspartylglucosaminuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with epilepsy' + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Aspartylglucosaminuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Aspartylglucosaminuria' SubClassOf 'disease' + 'Aspartylglucosaminuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98907 Label: Dorfman-Chanarin disease - 'Dorfman-Chanarin disease' SubClassOf 'disease' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Dorfman-Chanarin disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Neutral lipid storage disease' - 'Dorfman-Chanarin disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dorfman-Chanarin disease' SubClassOf 'part_of' some 'Syndromic ichthyosis associated with ocular features' + 'Dorfman-Chanarin disease' SubClassOf 'disease' + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neutral lipid storage disease' + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Dorfman-Chanarin disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dorfman-Chanarin disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dorfman-Chanarin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ichthyosis associated with ocular features' Class: http://www.orpha.net/ORDO/Orphanet_92 Label: Juvenile idiopathic arthritis - 'Juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C032 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile idiopathic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_95 Label: Friedreich ataxia - 'Friedreich ataxia' SubClassOf 'part_of' some 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' - 'Friedreich ataxia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Friedreich ataxia' SubClassOf 'disease' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Friedreich ataxia' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' - 'Friedreich ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Friedreich ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf 'disease' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebellar ataxia with peripheral neuropathy' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Friedreich ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98909 Label: Desminopathy - 'Desminopathy' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Desminopathy' SubClassOf 'disease' - 'Desminopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Desminopathy' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Desminopathy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' + 'Desminopathy' SubClassOf 'disease' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Desminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_94 Label: Astrocytoma - 'Astrocytoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Astrocytoma' SubClassOf 'group of disorders' + 'Astrocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Astrocytoma' SubClassOf 'group of disorders' + 'Astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Astrocytoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98904 Label: Congenital myopathy with excess of thin filaments - 'Congenital myopathy with excess of thin filaments' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-actin' - 'Congenital myopathy with excess of thin filaments' SubClassOf 'part_of' some 'Congenital myopathy' - 'Congenital myopathy with excess of thin filaments' SubClassOf 'disease' + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Congenital myopathy with excess of thin filaments' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-actin' + 'Congenital myopathy with excess of thin filaments' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_377052 Label: signal sequence receptor, delta - 'signal sequence receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'SSR4-CDG' - 'signal sequence receptor, delta' SubClassOf 'gene' + 'signal sequence receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'SSR4-CDG' + 'signal sequence receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal sequence receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98905 Label: Congenital multicore myopathy with external ophthalmoplegia - 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'clinical subtype' + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'clinical subtype' + 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98902 Label: Amish nemaline myopathy - 'Amish nemaline myopathy' SubClassOf 'part_of' some 'Nemaline myopathy' - 'Amish nemaline myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of troponin' - 'Amish nemaline myopathy' SubClassOf 'clinical subtype' - 'Amish nemaline myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amish nemaline myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Amish nemaline myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amish nemaline myopathy' SubClassOf 'clinical subtype' + 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nemaline myopathy' + 'Amish nemaline myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Amish nemaline myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of troponin' Class: http://www.orpha.net/ORDO/Orphanet_324535 Label: Combined oxidative phosphorylation defect type 11 - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_242915 Label: Cbl proto-oncogene, E3 ubiquitin protein ligase - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' - 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Major susceptibility factor in' some 'Juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Major susceptibility factor in' some 'Juvenile myelomonocytic leukemia' + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'Cbl proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1297 Label: Branchio-oculo-facial syndrome - 'Branchio-oculo-facial syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-oculo-facial syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchio-oculo-facial syndrome' SubClassOf 'malformation syndrome' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Branchio-oculo-facial syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Branchio-oculo-facial syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Branchio-oculo-facial syndrome' SubClassOf 'malformation syndrome' + 'Branchio-oculo-facial syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchio-oculo-facial syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchio-oculo-facial syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206448 Label: Adult Krabbe disease - 'Adult Krabbe disease' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Adult Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' - 'Adult Krabbe disease' SubClassOf 'clinical subtype' + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' + 'Adult Krabbe disease' SubClassOf 'clinical subtype' + 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral lipidosis with dementia' Class: http://www.orpha.net/ORDO/Orphanet_1296 Label: Lambert syndrome - 'Lambert syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Lambert syndrome' SubClassOf 'part_of' some 'Otomandibular dysplasia associated with monogenic syndromes' - 'Lambert syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Lambert syndrome' SubClassOf 'malformation syndrome' - 'Lambert syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Lambert syndrome' SubClassOf 'malformation syndrome' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Otomandibular dysplasia associated with monogenic syndromes' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1295 Label: Brachytelephalangy - dysmorphism - Kallmann syndrome - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'malformation syndrome' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'malformation syndrome' + 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206443 Label: Late-infantile/juvenile Krabbe disease - 'Late-infantile/juvenile Krabbe disease' SubClassOf 'part_of' some 'Krabbe disease' - 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' + 'Late-infantile/juvenile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Krabbe disease' + 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399831 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder - 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1293 Label: Brachyolmia - 'Brachyolmia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Brachyolmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachyolmia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachyolmia' SubClassOf 'group of disorders' + 'Brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachyolmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Brachyolmia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1292 Label: Brachymorphism - onychodysplasia - dysphalangism - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'malformation syndrome' - 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90 Label: Argininemia - 'Argininemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Argininemia' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Argininemia' SubClassOf 'disease' - 'Argininemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Argininemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Argininemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Argininemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Argininemia' SubClassOf 'disease' + 'Argininemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.27"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Argininemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' Class: http://www.orpha.net/ORDO/Orphanet_91 Label: Aromatase deficiency - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Aromatase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Aromatase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetoplacental androgens excess' - 'Aromatase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Aromatase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aromatase deficiency' SubClassOf 'disease' - 'Aromatase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Aromatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aromatase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetoplacental androgens excess' + 'Aromatase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Aromatase deficiency' SubClassOf 'disease' + 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_229791 Label: keratin 74 - 'keratin 74' SubClassOf 'gene' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' - 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pure hair and nail ectodermal dysplasia' + 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Woolly hair' + 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'keratin 74' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_242919 Label: steroid 5 alpha-reductase 3 - 'steroid 5 alpha-reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'SRD5A3-CDG' - 'steroid 5 alpha-reductase 3' SubClassOf 'gene' + 'steroid 5 alpha-reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'SRD5A3-CDG' + 'steroid 5 alpha-reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'steroid 5 alpha-reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401564 Label: vacuolar protein sorting 53 homolog (S. cerevisiae) - 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' - 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'gene' + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1299 Label: Branchio-skeleto-genital syndrome - 'Branchio-skeleto-genital syndrome' SubClassOf 'malformation syndrome' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchio-skeleto-genital syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Branchio-skeleto-genital syndrome' SubClassOf 'malformation syndrome' + 'Branchio-skeleto-genital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Branchio-skeleto-genital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98919 Label: Miller-Fisher syndrome - 'Miller-Fisher syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Miller-Fisher syndrome' SubClassOf 'part_of' some 'Regional variant of Guillain-Barr� syndrome' - 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Miller-Fisher syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Miller-Fisher syndrome' SubClassOf 'disease' - 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Miller-Fisher syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Miller-Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Regional variant of Guillain-Barr� syndrome' + 'Miller-Fisher syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Miller-Fisher syndrome' SubClassOf 'disease' + 'Miller-Fisher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Miller-Fisher syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_98918 Label: Acute motor axonal neuropathy - 'Acute motor axonal neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute motor axonal neuropathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute motor axonal neuropathy' SubClassOf 'disease' - 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute motor axonal neuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' + 'Acute motor axonal neuropathy' SubClassOf 'disease' + 'Acute motor axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' + 'Acute motor axonal neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute motor axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_98913 Label: Postsynaptic congenital myasthenic syndromes - 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' - 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Postsynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' + 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98912 Label: Late-onset distal myopathy, Markesbery-Griggs type - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'disease' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' - 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein ZASP' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'disease' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein ZASP' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98911 Label: Distal myotilinopathy - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Distal myotilinopathy' SubClassOf 'disease' - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of myotilin' - 'Distal myotilinopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of myotilin' + 'Distal myotilinopathy' SubClassOf 'disease' + 'Distal myotilinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98910 Label: Alpha-crystallinopathy - 'Alpha-crystallinopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' - 'Alpha-crystallinopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alphaB-cristallin' - 'Alpha-crystallinopathy' SubClassOf 'disease' + 'Alpha-crystallinopathy' SubClassOf 'disease' + 'Alpha-crystallinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alphaB-cristallin' + 'Alpha-crystallinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98917 Label: Acute motor-sensory axonal neuropathy - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'disease' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute motor-sensory axonal neuropathy' SubClassOf 'disease' + 'Acute motor-sensory axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165856 Label: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 - 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'gene' - 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary immunodeficiency syndrome due to p14 deficiency' + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'late endosomal/lysosomal adaptor, MAPK and MTOR activator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary immunodeficiency syndrome due to p14 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_182231 Label: Rare rheumatologic disease - 'Rare rheumatologic disease' SubClassOf 'group of disorders' + 'Rare rheumatologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98916 Label: Acute inflammatory demyelinating polyradiculoneuropathy - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'part_of' some 'Guillain-Barr� syndrome' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'disease' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'disease' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Guillain-Barr� syndrome' + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Acute inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_326886 Label: killin, p53-regulated DNA replication inhibitor - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' - 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'gene' + 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'killin, p53-regulated DNA replication inhibitor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'killin, p53-regulated DNA replication inhibitor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'killin, p53-regulated DNA replication inhibitor' SubClassOf 'Major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_98915 Label: Synaptic congenital myasthenic syndromes - 'Synaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' - 'Synaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Synaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' + 'Synaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98914 Label: Presynaptic congenital myasthenic syndromes - 'Presynaptic congenital myasthenic syndromes' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' - 'Presynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' + 'Presynaptic congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myasthenic syndrome' + 'Presynaptic congenital myasthenic syndromes' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_1261 Label: Bonnemann-Meinecke-Reich syndrome - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'malformation syndrome' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'malformation syndrome' + 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1260 Label: Sino-auricular heart block - 'Sino-auricular heart block' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Sino-auricular heart block' SubClassOf 'disease' + 'Sino-auricular heart block' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Sino-auricular heart block' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1263 Label: Boomerang dysplasia - 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Boomerang dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Boomerang dysplasia' SubClassOf 'disease' - 'Boomerang dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Boomerang dysplasia' SubClassOf 'part_of' some 'Filamin-related bone disorder' + 'Boomerang dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Boomerang dysplasia' SubClassOf 'disease' + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Boomerang dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Boomerang dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Boomerang dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98920 Label: Spinal muscular atrophy with respiratory distress type 1 - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'disease' - 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'disease' + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_1262 Label: B��k syndrome - 'B��k syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'B��k syndrome' SubClassOf 'malformation syndrome' - 'B��k syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'B��k syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'B��k syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'B��k syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'B��k syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'B��k syndrome' SubClassOf 'malformation syndrome' + 'B��k syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'B��k syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_182228 Label: Systemic autoimmune disease - 'Systemic autoimmune disease' SubClassOf 'group of disorders' + 'Systemic autoimmune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_50815 Label: Branchiogenic deafness syndrome - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Branchiogenic deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Branchiogenic deafness syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Branchiogenic deafness syndrome' SubClassOf 'malformation syndrome' - 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Branchiogenic deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Branchiogenic deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Branchiogenic deafness syndrome' SubClassOf 'malformation syndrome' + 'Branchiogenic deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1264 Label: Tricho-retino-dento-digital syndrome - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tricho-retino-dento-digital syndrome' SubClassOf 'malformation syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tricho-retino-dento-digital syndrome' SubClassOf 'malformation syndrome' + 'Tricho-retino-dento-digital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tricho-retino-dento-digital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1267 Label: Botulism - 'Botulism' SubClassOf 'disease' - 'Botulism' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Botulism' SubClassOf 'part_of' some 'Acquired neuromuscular junction disease' - 'Botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Botulism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf 'disease' + 'Botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neuromuscular junction disease' + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_50814 Label: Craniolenticulosutural dysplasia - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Craniolenticulosutural dysplasia' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniolenticulosutural dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniolenticulosutural dysplasia' SubClassOf 'malformation syndrome' + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniolenticulosutural dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniolenticulosutural dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniolenticulosutural dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniolenticulosutural dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniolenticulosutural dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1266 Label: Dermato-cardio-skeletal syndrome, Borrone type - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'malformation syndrome' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'malformation syndrome' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_50811 Label: Lipodystrophy - intellectual disability - deafness - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'malformation syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'part_of' some 'Primary bone dysplasia with defective bone mineralization' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'malformation syndrome' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with defective bone mineralization' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50812 Label: Zellweger-like syndrome without peroxisomal anomalies - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141000 Label: Orofaciodigital syndrome type 11 - 'Orofaciodigital syndrome type 11' SubClassOf 'has_inheritance' some 'sporadic' - 'Orofaciodigital syndrome type 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Orofaciodigital syndrome type 11' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 11' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Orofaciodigital syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Orofaciodigital syndrome type 11' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50810 Label: Microlissencephaly - micromelia - 'Microlissencephaly - micromelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microlissencephaly - micromelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microlissencephaly - micromelia' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microlissencephaly - micromelia' SubClassOf 'malformation syndrome' + 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microlissencephaly - micromelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Microlissencephaly - micromelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microlissencephaly - micromelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microlissencephaly - micromelia' SubClassOf 'malformation syndrome' + 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280234 Label: Null syndrome - 'Null syndrome' SubClassOf 'clinical subtype' - 'Null syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Null syndrome' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Null syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Null syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Null syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Null syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Null syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Null syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_222628 Label: Hereditary poikiloderma - 'Hereditary poikiloderma' SubClassOf 'group of disorders' + 'Hereditary poikiloderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_392264 Label: TELO2 interacting protein 2 - 'TELO2 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' - 'TELO2 interacting protein 2' SubClassOf 'gene' + 'TELO2 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' + 'TELO2 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p12"^^http://www.w3.org/2001/XMLSchema#string + 'TELO2 interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_235207 Label: intraflagellar transport 122 - 'intraflagellar transport 122' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' - 'intraflagellar transport 122' SubClassOf 'gene' + 'intraflagellar transport 122' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 122' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' + 'intraflagellar transport 122' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_235204 Label: crystallin, gamma S - 'crystallin, gamma S' SubClassOf 'gene' - 'crystallin, gamma S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset cortical cataract' + 'crystallin, gamma S' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma S' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset cortical cataract' + 'crystallin, gamma S' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98922 Label: Blake pouch cyst - 'Blake pouch cyst' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' - 'Blake pouch cyst' SubClassOf 'morphological anomaly' + 'Blake pouch cyst' SubClassOf 'morphological anomaly' + 'Blake pouch cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' Class: http://www.orpha.net/ORDO/Orphanet_399849 Label: Rare female infertility due to an adrenal disorder - 'Rare female infertility due to an adrenal disorder' SubClassOf 'group of disorders' + 'Rare female infertility due to an adrenal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182222 Label: Rare systemic disease - 'Rare systemic disease' SubClassOf 'group of disorders' + 'Rare systemic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165848 Label: GLIS family zinc finger 3 - 'GLIS family zinc finger 3' SubClassOf 'gene' - 'GLIS family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' + 'GLIS family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'GLIS family zinc finger 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLIS family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' Class: http://www.orpha.net/ORDO/Orphanet_165845 Label: casein kinase 1, delta - 'casein kinase 1, delta' SubClassOf 'gene' - 'casein kinase 1, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' + 'casein kinase 1, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string + 'casein kinase 1, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial advanced sleep-phase syndrome' + 'casein kinase 1, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1272 Label: Fine-Lubinsky syndrome - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Fine-Lubinsky syndrome' SubClassOf 'malformation syndrome' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Fine-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Fine-Lubinsky syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fine-Lubinsky syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fine-Lubinsky syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fine-Lubinsky syndrome' SubClassOf 'malformation syndrome' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Fine-Lubinsky syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Fine-Lubinsky syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fine-Lubinsky syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_399853 Label: Rare female infertility due to an anomaly of ovarian function - 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'group of disorders' + 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182214 Label: Rare inflammatory eye disease - 'Rare inflammatory eye disease' SubClassOf 'group of disorders' + 'Rare inflammatory eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1270 Label: Bowen-Conradi syndrome - 'Bowen-Conradi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bowen-Conradi syndrome' SubClassOf 'malformation syndrome' - 'Bowen-Conradi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Bowen-Conradi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bowen-Conradi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Bowen-Conradi syndrome' SubClassOf 'malformation syndrome' + 'Bowen-Conradi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bowen-Conradi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1276 Label: Brachydactyly - arterial hypertension - 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly - arterial hypertension' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly - arterial hypertension' SubClassOf 'part_of' some 'Genetic hypertension' - 'Brachydactyly - arterial hypertension' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - arterial hypertension' SubClassOf 'malformation syndrome' - 'Brachydactyly - arterial hypertension' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly - arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypertension' + 'Brachydactyly - arterial hypertension' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - arterial hypertension' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly - arterial hypertension' SubClassOf 'malformation syndrome' + 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly - arterial hypertension' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1275 Label: Brachydactyly - elbow wrist dysplasia - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'malformation syndrome' - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'malformation syndrome' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_280229 Label: Pelizaeus-Merzbacher disease in female carriers - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1278 Label: Brachydactyly - preaxial hallux varus - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' - 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly - preaxial hallux varus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly - preaxial hallux varus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly - preaxial hallux varus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1277 Label: Brachydactyly - mesomelia - intellectual disability - heart defects - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'malformation syndrome' - 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'malformation syndrome' + 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_206428 Label: Hypoxanthine-guanine phosphoribosyltransferase deficiency - 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of disorders' + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280224 Label: Pelizaeus-Merzbacher disease, transitional form - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher disease' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_122387 Label: huntingtin - 'huntingtin' SubClassOf 'gene' - 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Huntington disease' - 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease' + 'huntingtin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Huntington disease' + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'huntingtin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Huntington disease' Class: http://www.orpha.net/ORDO/Orphanet_281347 Label: ubiquilin 2 - 'ubiquilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'ubiquilin 2' SubClassOf 'gene' + 'ubiquilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'ubiquilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228290 Label: White fibrous papulosis of the neck - 'White fibrous papulosis of the neck' SubClassOf 'disease' - 'White fibrous papulosis of the neck' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'White fibrous papulosis of the neck' SubClassOf 'has_prevalence' some 'Unknown' - 'White fibrous papulosis of the neck' SubClassOf 'has_inheritance' some 'sporadic' - 'White fibrous papulosis of the neck' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'White fibrous papulosis of the neck' SubClassOf 'disease' + 'White fibrous papulosis of the neck' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'White fibrous papulosis of the neck' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'White fibrous papulosis of the neck' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_400003 Label: Rare genetic disorder with obstructive azoospermia - 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'group of disorders' + 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397587 Label: Deep dermatophytosis - 'Deep dermatophytosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Deep dermatophytosis' SubClassOf 'disease' + 'Deep dermatophytosis' SubClassOf 'disease' + 'Deep dermatophytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_228293 Label: Pseudoxanthoma elasticum-like papillary dermal elastocytosis - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'disease' + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pseudoxanthoma elasticum-like papillary dermal elastocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122381 Label: hyperpolarization activated cyclic nucleotide-gated potassium channel 4 - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'gene' + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial sick sinus syndrome' + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hyperpolarization activated cyclic nucleotide-gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98942 Label: Coloboma of choroid and retina - 'Coloboma of choroid and retina' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of choroid and retina' SubClassOf 'morphological anomaly' + 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' + 'Coloboma of choroid and retina' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98941 Label: Von Hippel anomaly - 'Von Hippel anomaly' SubClassOf 'part_of' some 'Peters anomaly' - 'Von Hippel anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Von Hippel anomaly' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Von Hippel anomaly' SubClassOf 'malformation syndrome' + 'Von Hippel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peters anomaly' + 'Von Hippel anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Von Hippel anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Von Hippel anomaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400008 Label: Rare genetic female infertility - 'Rare genetic female infertility' SubClassOf 'group of disorders' + 'Rare genetic female infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352629 Label: 16q24.1 microdeletion syndrome - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '16q24.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' - '16q24.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '16q24.1 microdeletion syndrome' SubClassOf 'disease' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 16' + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '16q24.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + '16q24.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '16q24.1 microdeletion syndrome' SubClassOf 'disease' + '16q24.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183734 Label: Genetic gynecological tumor - 'Genetic gynecological tumor' SubClassOf 'group of disorders' + 'Genetic gynecological tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122383 Label: hypocretin (orexin) neuropeptide precursor - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'gene' - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' - 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Candidate gene tested in' some 'Narcolepsy without cataplexy' + 'hypocretin (orexin) neuropeptide precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'hypocretin (orexin) neuropeptide precursor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Major susceptibility factor in' some 'Narcolepsy-cataplexy' + 'hypocretin (orexin) neuropeptide precursor' SubClassOf 'Candidate gene tested in' some 'Narcolepsy without cataplexy' Class: http://www.orpha.net/ORDO/Orphanet_183731 Label: Rare genetic gynecological and obstetrical diseases - 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'group of disorders' + 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157850 Label: Pantothenate kinase-associated neurodegeneration - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_376495 Label: seizure threshold 2 homolog (mouse) - 'seizure threshold 2 homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy without suppression burst' - 'seizure threshold 2 homolog (mouse)' SubClassOf 'gene' + 'seizure threshold 2 homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy without suppression burst' + 'seizure threshold 2 homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.2"^^http://www.w3.org/2001/XMLSchema#string + 'seizure threshold 2 homolog (mouse)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98938 Label: Colobomatous microphthalmia - 'Colobomatous microphthalmia' SubClassOf 'part_of' some 'Isolated anophthalmia - microphthalmia' - 'Colobomatous microphthalmia' SubClassOf 'malformation syndrome' + 'Colobomatous microphthalmia' SubClassOf 'malformation syndrome' + 'Colobomatous microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anophthalmia - microphthalmia' + 'Colobomatous microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98933 Label: Multiple system atrophy, parkinsonian type - 'Multiple system atrophy, parkinsonian type' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'part_of' some 'Multiple system atrophy' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'clinical subtype' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_inheritance' some 'sporadic' - 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Multiple system atrophy, parkinsonian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple system atrophy' + 'Multiple system atrophy, parkinsonian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Multiple system atrophy, parkinsonian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple system atrophy, parkinsonian type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98934 Label: Huntington disease-like 2 - 'Huntington disease-like 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Huntington disease-like 2' SubClassOf 'disease' - 'Huntington disease-like 2' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Huntington disease-like 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Huntington disease-like 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Huntington disease-like 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Huntington disease-like 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Huntington disease-like 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Huntington disease-like 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Huntington disease-like 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_323437 Label: ectopic P-granules autophagy protein 5 homolog (C. elegans) - 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf 'gene' - 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vici syndrome' + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'ectopic P-granules autophagy protein 5 homolog (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vici syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217012 Label: Spinocerebellar ataxia type 31 - 'Spinocerebellar ataxia type 31' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 3' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 31' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Spinocerebellar ataxia type 31' SubClassOf 'disease' + 'Spinocerebellar ataxia type 31' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 31' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 31' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 3' + 'Spinocerebellar ataxia type 31' SubClassOf 'disease' + 'Spinocerebellar ataxia type 31' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_228299 Label: Mid-dermal elastolysis - 'Mid-dermal elastolysis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Mid-dermal elastolysis' SubClassOf 'disease' - 'Mid-dermal elastolysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Mid-dermal elastolysis' SubClassOf 'has_inheritance' some 'sporadic' - 'Mid-dermal elastolysis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Mid-dermal elastolysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mid-dermal elastolysis' SubClassOf 'disease' + 'Mid-dermal elastolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Mid-dermal elastolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_217017 Label: Zechi-Ceide syndrome - 'Zechi-Ceide syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zechi-Ceide syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Zechi-Ceide syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Zechi-Ceide syndrome' SubClassOf 'malformation syndrome' + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Zechi-Ceide syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Zechi-Ceide syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zechi-Ceide syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zechi-Ceide syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122398 Label: HESX homeobox 1 - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'HESX homeobox 1' SubClassOf 'gene' - 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'HESX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HESX homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'HESX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined pituitary hormone deficiencies, genetic forms' Class: http://www.orpha.net/ORDO/Orphanet_288971 Label: chromosome 8 open reading frame 37 - 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'chromosome 8 open reading frame 37' SubClassOf 'gene' - 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'chromosome 8 open reading frame 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'chromosome 8 open reading frame 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 8 open reading frame 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_159633 Label: alpha-methylacyl-CoA racemase - 'alpha-methylacyl-CoA racemase' SubClassOf 'gene' - 'alpha-methylacyl-CoA racemase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 4' + 'alpha-methylacyl-CoA racemase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'alpha-methylacyl-CoA racemase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alpha-methylacyl-CoA racemase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital bile acid synthesis defect type 4' Class: http://www.orpha.net/ORDO/Orphanet_122391 Label: histone deacetylase 9 - 'histone deacetylase 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' - 'histone deacetylase 9' SubClassOf 'gene' + 'histone deacetylase 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'histone deacetylase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'histone deacetylase 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98951 Label: Inverse Marcus-Gunn phenomenon - 'Inverse Marcus-Gunn phenomenon' SubClassOf 'clinical subtype' - 'Inverse Marcus-Gunn phenomenon' SubClassOf 'part_of' some 'Marcus-Gunn syndrome' + 'Inverse Marcus-Gunn phenomenon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marcus-Gunn syndrome' + 'Inverse Marcus-Gunn phenomenon' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98950 Label: Partial cryptophthalmia - 'Partial cryptophthalmia' SubClassOf 'clinical subtype' - 'Partial cryptophthalmia' SubClassOf 'part_of' some 'Isolated cryptophthalmia' + 'Partial cryptophthalmia' SubClassOf 'clinical subtype' + 'Partial cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98949 Label: Complete cryptophthalmia - 'Complete cryptophthalmia' SubClassOf 'part_of' some 'Isolated cryptophthalmia' - 'Complete cryptophthalmia' SubClassOf 'clinical subtype' + 'Complete cryptophthalmia' SubClassOf 'clinical subtype' + 'Complete cryptophthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98947 Label: Coloboma of optic papilla - 'Coloboma of optic papilla' SubClassOf 'morphological anomaly' - 'Coloboma of optic papilla' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of optic papilla' SubClassOf 'morphological anomaly' + 'Coloboma of optic papilla' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93622 Label: Dent disease type 1 - 'Dent disease type 1' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dent disease type 1' SubClassOf 'part_of' some 'Dent disease' - 'Dent disease type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Dent disease type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dent disease type 1' SubClassOf 'clinical subtype' + 'Dent disease type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dent disease type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dent disease' + 'Dent disease type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dent disease type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98948 Label: Congenital symblepharon - 'Congenital symblepharon' SubClassOf 'clinical subtype' - 'Congenital symblepharon' SubClassOf 'part_of' some 'Isolated cryptophthalmia' + 'Congenital symblepharon' SubClassOf 'clinical subtype' + 'Congenital symblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cryptophthalmia' Class: http://www.orpha.net/ORDO/Orphanet_98945 Label: Coloboma of macula - 'Coloboma of macula' SubClassOf 'morphological anomaly' - 'Coloboma of macula' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of macula' SubClassOf 'part_of' some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula' SubClassOf 'morphological anomaly' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Colobomatous and areolar dystrophy' + 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_98946 Label: Coloboma of eyelid - 'Coloboma of eyelid' SubClassOf 'part_of' some 'Ocular coloboma' - 'Coloboma of eyelid' SubClassOf 'morphological anomaly' - 'Coloboma of eyelid' SubClassOf 'part_of' some 'Eyelid border anomaly' + 'Coloboma of eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyelid border anomaly' + 'Coloboma of eyelid' SubClassOf 'morphological anomaly' + 'Coloboma of eyelid' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93623 Label: Dent disease type 2 - 'Dent disease type 2' SubClassOf 'clinical subtype' - 'Dent disease type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Dent disease type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Dent disease type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dent disease type 2' SubClassOf 'part_of' some 'Dent disease' + 'Dent disease type 2' SubClassOf 'clinical subtype' + 'Dent disease type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dent disease' + 'Dent disease type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Dent disease type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_98943 Label: Coloboma of eye lens - 'Coloboma of eye lens' SubClassOf 'morphological anomaly' - 'Coloboma of eye lens' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of eye lens' SubClassOf 'morphological anomaly' + 'Coloboma of eye lens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' Class: http://www.orpha.net/ORDO/Orphanet_93626 Label: Rare renal disease - 'Rare renal disease' SubClassOf 'group of disorders' + 'Rare renal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98944 Label: Coloboma of iris - 'Coloboma of iris' SubClassOf 'morphological anomaly' - 'Coloboma of iris' SubClassOf 'part_of' some 'Ocular coloboma' + 'Coloboma of iris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular coloboma' + 'Coloboma of iris' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217008 Label: Bockenheimer syndrome - 'Bockenheimer syndrome' SubClassOf 'malformation syndrome' - 'Bockenheimer syndrome' SubClassOf 'part_of' some 'Venous malformation' - 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bockenheimer syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Bockenheimer syndrome' SubClassOf 'part_of' some 'Skin vascular disease' + 'Bockenheimer syndrome' SubClassOf 'malformation syndrome' + 'Bockenheimer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Bockenheimer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159628 Label: gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) - 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'gene' - 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21-p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_157835 Label: Paroxysmal hemicrania - 'Paroxysmal hemicrania' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Paroxysmal hemicrania' SubClassOf 'disease' - 'Paroxysmal hemicrania' SubClassOf 'part_of' some 'Rare headache' - 'Paroxysmal hemicrania' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Paroxysmal hemicrania' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal hemicrania' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal hemicrania' SubClassOf 'disease' + 'Paroxysmal hemicrania' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' Class: http://www.orpha.net/ORDO/Orphanet_159623 Label: glial cells missing homolog 2 (Drosophila) - 'glial cells missing homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' - 'glial cells missing homolog 2 (Drosophila)' SubClassOf 'gene' + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p24.2"^^http://www.w3.org/2001/XMLSchema#string + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' + 'glial cells missing homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228272 Label: Primary anetoderma - 'Primary anetoderma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary anetoderma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Primary anetoderma' SubClassOf 'disease' - 'Primary anetoderma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary anetoderma' SubClassOf 'has_inheritance' some 'sporadic' + 'Primary anetoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Primary anetoderma' SubClassOf 'disease' + 'Primary anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary anetoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_157832 Label: Craniorhiny - 'Craniorhiny' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniorhiny' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniorhiny' SubClassOf 'malformation syndrome' + 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniorhiny' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniorhiny' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Craniorhiny' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniorhiny' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98960 Label: Thiel-Behnke corneal dystrophy - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Thiel-Behnke corneal dystrophy' SubClassOf 'disease' + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thiel-Behnke corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Thiel-Behnke corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Thiel-Behnke corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_92050 Label: Intestinal epithelial dysplasia - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Intestinal epithelial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intestinal epithelial dysplasia' SubClassOf 'disease' - 'Intestinal epithelial dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Intestinal epithelial dysplasia' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Intestinal epithelial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Intestinal epithelial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Intestinal epithelial dysplasia' SubClassOf 'disease' + 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' Class: http://www.orpha.net/ORDO/Orphanet_159621 Label: gamma-aminobutyric acid (GABA) A receptor, beta 3 - 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q12"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_183710 Label: Genetic susceptibility to infections due to particular pathogens - 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'group of disorders' + 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_242924 Label: tight junction protein 2 - 'tight junction protein 2' SubClassOf 'gene' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypercholanemia' + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'tight junction protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q13-q21"^^http://www.w3.org/2001/XMLSchema#string + 'tight junction protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' Class: http://www.orpha.net/ORDO/Orphanet_98962 Label: Granular corneal dystrophy type I - 'Granular corneal dystrophy type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Granular corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Granular corneal dystrophy type I' SubClassOf 'disease' - 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some 'sporadic' - 'Granular corneal dystrophy type I' SubClassOf 'part_of' some 'Stromal corneal dystrophy' + 'Granular corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Granular corneal dystrophy type I' SubClassOf 'disease' + 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Granular corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Granular corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_263004 Label: Partial duplication of the long arm of chromosome 22 - 'Partial duplication of the long arm of chromosome 22' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 22' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98961 Label: Reis-B�cklers corneal dystrophy - 'Reis-B�cklers corneal dystrophy' SubClassOf 'disease' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Reis-B�cklers corneal dystrophy' SubClassOf 'disease' + 'Reis-B�cklers corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Reis-B�cklers corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Reis-B�cklers corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_352609 Label: phosphorylase kinase, gamma 1 (muscle) - 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'gene' - 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'Candidate gene tested in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase kinase, gamma 1 (muscle)' SubClassOf 'Candidate gene tested in' some 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_98964 Label: Lattice corneal dystrophy type I - 'Lattice corneal dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lattice corneal dystrophy type I' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Lattice corneal dystrophy type I' SubClassOf 'has_prevalence' some 'Unknown' - 'Lattice corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lattice corneal dystrophy type I' SubClassOf 'disease' + 'Lattice corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Lattice corneal dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lattice corneal dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lattice corneal dystrophy type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183713 Label: Pyogenic bacterial infections due to MyD88 deficiency - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'disease' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'disease' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_242929 Label: chromosome 12 open reading frame 65 - 'chromosome 12 open reading frame 65' SubClassOf 'gene' - 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 7' - 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 55' + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Behr syndrome' + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 7' + 'chromosome 12 open reading frame 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'chromosome 12 open reading frame 65' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 12 open reading frame 65' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 55' Class: http://www.orpha.net/ORDO/Orphanet_98963 Label: Granular corneal dystrophy type II - 'Granular corneal dystrophy type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Granular corneal dystrophy type II' SubClassOf 'disease' - 'Granular corneal dystrophy type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Granular corneal dystrophy type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Granular corneal dystrophy type II' SubClassOf 'part_of' some 'Stromal corneal dystrophy' + 'Granular corneal dystrophy type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Granular corneal dystrophy type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Granular corneal dystrophy type II' SubClassOf 'disease' + 'Granular corneal dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98954 Label: Meesmann corneal dystrophy - 'Meesmann corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Meesmann corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Meesmann corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Meesmann corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Meesmann corneal dystrophy' SubClassOf 'disease' + 'Meesmann corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Meesmann corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Meesmann corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Meesmann corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Meesmann corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98955 Label: Lisch epithelial corneal dystrophy - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lisch epithelial corneal dystrophy' SubClassOf 'disease' - 'Lisch epithelial corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lisch epithelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Lisch epithelial corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lisch epithelial corneal dystrophy' SubClassOf 'disease' + 'Lisch epithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Lisch epithelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lisch epithelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_93614 Label: Hematological disorder with renal involvement - 'Hematological disorder with renal involvement' SubClassOf 'group of disorders' + 'Hematological disorder with renal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98956 Label: Microcystic corneal dystrophy - 'Microcystic corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Microcystic corneal dystrophy' SubClassOf 'disease' + 'Microcystic corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Microcystic corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93613 Label: Cystinuria type B - 'Cystinuria type B' SubClassOf 'part_of' some 'Cystinuria' - 'Cystinuria type B' SubClassOf 'etiological subtype' + 'Cystinuria type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystinuria' + 'Cystinuria type B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98957 Label: Gelatinous drop-like corneal dystrophy - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'disease' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'disease' + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Gelatinous drop-like corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Gelatinous drop-like corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Gelatinous drop-like corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93612 Label: Cystinuria type A - 'Cystinuria type A' SubClassOf 'part_of' some 'Cystinuria' - 'Cystinuria type A' SubClassOf 'etiological subtype' + 'Cystinuria type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystinuria' + 'Cystinuria type A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98958 Label: Honey-droplet corneal dystrophy - 'Honey-droplet corneal dystrophy' SubClassOf 'disease' - 'Honey-droplet corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' + 'Honey-droplet corneal dystrophy' SubClassOf 'disease' + 'Honey-droplet corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98959 Label: Subepithelial mucinous corneal dystrophy - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'disease' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'disease' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Subepithelial mucinous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Subepithelial mucinous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Subepithelial mucinous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93610 Label: Distal renal tubular acidosis with anemia - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal renal tubular acidosis with anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' - 'Distal renal tubular acidosis with anemia' SubClassOf 'part_of' some 'Distal renal tubular acidosis' - 'Distal renal tubular acidosis with anemia' SubClassOf 'clinical subtype' - 'Distal renal tubular acidosis with anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Distal renal tubular acidosis with anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal renal tubular acidosis' + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal renal tubular acidosis with anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' + 'Distal renal tubular acidosis with anemia' SubClassOf 'clinical subtype' + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal renal tubular acidosis with anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_75508 Label: Angioosteohypotrophic syndrome - 'Angioosteohypotrophic syndrome' SubClassOf 'malformation syndrome' - 'Angioosteohypotrophic syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Angioosteohypotrophic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Angioosteohypotrophic syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Angioosteohypotrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioosteohypotrophic syndrome' SubClassOf 'malformation syndrome' + 'Angioosteohypotrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Angioosteohypotrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_326843 Label: mindbomb E3 ubiquitin protein ligase 1 - 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf 'gene' - 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Left ventricular noncompaction' + 'mindbomb E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228277 Label: Familial anetoderma - 'Familial anetoderma' SubClassOf 'disease' - 'Familial anetoderma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial anetoderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial anetoderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial anetoderma' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' + 'Familial anetoderma' SubClassOf 'disease' + 'Familial anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial anetoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Familial anetoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial anetoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_63862 Label: Schisis association - 'Schisis association' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schisis association' SubClassOf 'malformation syndrome' - 'Schisis association' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Schisis association' SubClassOf 'has_prevalence' some 'Unknown' + 'Schisis association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Schisis association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schisis association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schisis association' SubClassOf 'malformation syndrome' + 'Schisis association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_288959 Label: retinol binding protein 3, interstitial - 'retinol binding protein 3, interstitial' SubClassOf 'gene' - 'retinol binding protein 3, interstitial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinol binding protein 3, interstitial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinol binding protein 3, interstitial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinol binding protein 3, interstitial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_93619 Label: Rare renal tumor - 'Rare renal tumor' SubClassOf 'group of disorders' + 'Rare renal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157826 Label: Congenital epulis - 'Congenital epulis' SubClassOf 'disease' - 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital epulis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital epulis' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Congenital epulis' SubClassOf 'disease' + 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital epulis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital epulis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital epulis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_93618 Label: Rare cause of hypertension - 'Rare cause of hypertension' SubClassOf 'group of disorders' + 'Rare cause of hypertension' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93616 Label: Hemoglobin H disease - 'Hemoglobin H disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hemoglobin H disease' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to storage disease' - 'Hemoglobin H disease' SubClassOf 'disease' - 'Hemoglobin H disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hemoglobin H disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin H disease' SubClassOf 'part_of' some 'Alpha-thalassemia' + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409989) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1200.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin H disease' SubClassOf 'clinical subtype' + 'Hemoglobin H disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency secondary to storage disease' + 'Hemoglobin H disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemoglobin H disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha-thalassemia' + 'Hemoglobin H disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_157846 Label: Neuroferritinopathy - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Huntington disease-like syndrome' - 'Neuroferritinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Neuroferritinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Neuroferritinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroferritinopathy' SubClassOf 'disease' - 'Neuroferritinopathy' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Huntington disease-like syndrome' + 'Neuroferritinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Neuroferritinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroferritinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Neuroferritinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_241992 Label: catechol-O-methyltransferase - 'catechol-O-methyltransferase' SubClassOf 'gene' - 'catechol-O-methyltransferase' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'catechol-O-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'catechol-O-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catechol-O-methyltransferase' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183707 Label: Neutrophil immunodeficiency syndrome - 'Neutrophil immunodeficiency syndrome' SubClassOf 'disease' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neutrophil immunodeficiency syndrome' SubClassOf 'disease' + 'Neutrophil immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Neutrophil immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Neutrophil immunodeficiency syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_397596 Label: Activated PIK3-delta syndrome - 'Activated PIK3-delta syndrome' SubClassOf 'disease' - 'Activated PIK3-delta syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'Activated PIK3-delta syndrome' SubClassOf 'disease' + 'Activated PIK3-delta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_159615 Label: FUS RNA binding protein - 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'FUS RNA binding protein' SubClassOf 'Major susceptibility factor in' some 'Frontotemporal dementia with motor neuron disease' - 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' - 'FUS RNA binding protein' SubClassOf 'gene' - 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'FUS RNA binding protein' SubClassOf 'Major susceptibility factor in' some 'Frontotemporal dementia with motor neuron disease' + 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxofibrosarcoma' + 'FUS RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FUS RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FUS RNA binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'FUS RNA binding protein' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_157843 Label: Trigeminal autonomic cephalalgia - 'Trigeminal autonomic cephalalgia' SubClassOf 'part_of' some 'Rare headache' - 'Trigeminal autonomic cephalalgia' SubClassOf 'disease' + 'Trigeminal autonomic cephalalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Trigeminal autonomic cephalalgia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228285 Label: Acquired cutis laxa - 'Acquired cutis laxa' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired cutis laxa' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acquired cutis laxa' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired cutis laxa' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Acquired cutis laxa' SubClassOf 'disease' + 'Acquired cutis laxa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Acquired cutis laxa' SubClassOf 'disease' + 'Acquired cutis laxa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acquired cutis laxa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_98971 Label: Posterior amorphous corneal dystrophy - 'Posterior amorphous corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Posterior amorphous corneal dystrophy' SubClassOf 'disease' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Posterior amorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Posterior amorphous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Posterior amorphous corneal dystrophy' SubClassOf 'disease' + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Posterior amorphous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_397590 Label: Silver-Russell syndrome due to a point mutation - 'Silver-Russell syndrome due to a point mutation' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to a point mutation' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98970 Label: Fleck corneal dystrophy - 'Fleck corneal dystrophy' SubClassOf 'disease' - 'Fleck corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Fleck corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fleck corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fleck corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fleck corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fleck corneal dystrophy' SubClassOf 'disease' + 'Fleck corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fleck corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fleck corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98975 Label: Congenital hereditary endothelial dystrophy type I - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disease' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hereditary endothelial dystrophy type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98974 Label: Fuchs endothelial corneal dystrophy - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'sporadic' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fuchs endothelial corneal dystrophy' SubClassOf 'disease' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Fuchs endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fuchs endothelial corneal dystrophy' SubClassOf 'disease' + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98973 Label: Posterior polymorphous corneal dystrophy - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'part_of' some 'Secondary glaucoma due to a proliferation and differentiation anomaly' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'disease' - 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Posterior polymorphous corneal dystrophy' SubClassOf 'disease' + 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glaucoma due to a proliferation and differentiation anomaly' + 'Posterior polymorphous corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Posterior polymorphous corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98972 Label: Central cloudy dystrophy of Francois - 'Central cloudy dystrophy of Francois' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Central cloudy dystrophy of Francois' SubClassOf 'disease' - 'Central cloudy dystrophy of Francois' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Central cloudy dystrophy of Francois' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central cloudy dystrophy of Francois' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central cloudy dystrophy of Francois' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior corneal dystrophy' + 'Central cloudy dystrophy of Francois' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Central cloudy dystrophy of Francois' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397593 Label: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'disease' + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98967 Label: Schnyder corneal dystrophy - 'Schnyder corneal dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schnyder corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schnyder corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Schnyder corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Schnyder corneal dystrophy' SubClassOf 'disease' + 'Schnyder corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Schnyder corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schnyder corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Schnyder corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schnyder corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93602 Label: Xanthinuria type II - 'Xanthinuria type II' SubClassOf 'part_of' some 'Hereditary xanthinuria' - 'Xanthinuria type II' SubClassOf 'etiological subtype' + 'Xanthinuria type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary xanthinuria' + 'Xanthinuria type II' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_93601 Label: Xanthinuria type I - 'Xanthinuria type I' SubClassOf 'part_of' some 'Hereditary xanthinuria' - 'Xanthinuria type I' SubClassOf 'etiological subtype' + 'Xanthinuria type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary xanthinuria' + 'Xanthinuria type I' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_165805 Label: Familial mesial temporal lobe epilepsy with febrile seizures - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disease' - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disease' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label: Antenatal Bartter syndrome - 'Antenatal Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Antenatal Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Antenatal Bartter syndrome' SubClassOf 'part_of' some 'Bartter syndrome' - 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Antenatal Bartter syndrome' SubClassOf 'clinical subtype' + 'Antenatal Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Antenatal Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Antenatal Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Antenatal Bartter syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93603 Label: Rare renal tubular disease - 'Rare renal tubular disease' SubClassOf 'group of disorders' + 'Rare renal tubular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98969 Label: Macular corneal dystrophy - 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Macular corneal dystrophy' SubClassOf 'part_of' some 'Stromal corneal dystrophy' - 'Macular corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Macular corneal dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Macular corneal dystrophy' SubClassOf 'disease' + 'Macular corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Macular corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Stromal corneal dystrophy' + 'Macular corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Macular corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Macular corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93600 Label: Primary hyperoxaluria type 3 - 'Primary hyperoxaluria type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hyperoxaluria type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 3' SubClassOf 'part_of' some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_323427 Label: inositol polyphosphate phosphatase-like 1 - 'inositol polyphosphate phosphatase-like 1' SubClassOf 'gene' - 'inositol polyphosphate phosphatase-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Opsismodysplasia' + 'inositol polyphosphate phosphatase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'inositol polyphosphate phosphatase-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Opsismodysplasia' + 'inositol polyphosphate phosphatase-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231040 Label: Familial generalized lentiginosis - 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial generalized lentiginosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial generalized lentiginosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial generalized lentiginosis' SubClassOf 'disease' + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial generalized lentiginosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial generalized lentiginosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Familial generalized lentiginosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93606 Label: Nephrogenic syndrome of inappropriate antidiuresis - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93605 Label: Classic Bartter syndrome - 'Classic Bartter syndrome' SubClassOf 'part_of' some 'Bartter syndrome' - 'Classic Bartter syndrome' SubClassOf 'clinical subtype' - 'Classic Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Classic Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Classic Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bartter syndrome' + 'Classic Bartter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic Bartter syndrome' SubClassOf 'clinical subtype' + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Classic Bartter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_93608 Label: Autosomal dominant distal renal tubular acidosis - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'part_of' some 'Distal renal tubular acidosis' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'clinical subtype' + 'Autosomal dominant distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal renal tubular acidosis' + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93607 Label: Autosomal recessive proximal renal tubular acidosis - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'clinical subtype' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'part_of' some 'Proximal renal tubular acidosis' - 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'clinical subtype' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proximal renal tubular acidosis' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_159608 Label: ferritin, heavy polypeptide 1 - 'ferritin, heavy polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FTH1-related iron overload' - 'ferritin, heavy polypeptide 1' SubClassOf 'gene' + 'ferritin, heavy polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FTH1-related iron overload' + 'ferritin, heavy polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ferritin, heavy polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98983 Label: Congenital cataract, Volkmann type - 'Congenital cataract, Volkmann type' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Congenital cataract, Volkmann type' SubClassOf 'clinical subtype' - 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital cataract, Volkmann type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Congenital cataract, Volkmann type' SubClassOf 'clinical subtype' + 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract, Volkmann type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98984 Label: Pulverulent cataract - 'Pulverulent cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pulverulent cataract' SubClassOf 'clinical subtype' + 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pulverulent cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Pulverulent cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pulverulent cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2295 Label: Ehlers-Danlos syndrome type 11 - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'disease' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_prevalence' some 'Unknown' - 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ehlers-Danlos syndrome type 11' SubClassOf 'disease' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ehlers-Danlos syndrome type 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome type 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98985 Label: Cataract with Y-shaped suture opacities - 'Cataract with Y-shaped suture opacities' SubClassOf 'clinical subtype' - 'Cataract with Y-shaped suture opacities' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cataract with Y-shaped suture opacities' SubClassOf 'clinical subtype' + 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract with Y-shaped suture opacities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Cataract with Y-shaped suture opacities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2292 Label: Congenital bowing of long bones - 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital bowing of long bones' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Congenital bowing of long bones' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital bowing of long bones' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bowing of long bones' SubClassOf 'morphological anomaly' - 'Congenital bowing of long bones' SubClassOf 'part_of' some 'Congenital deformities of limbs' + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of limbs' + 'Congenital bowing of long bones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital bowing of long bones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital bowing of long bones' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bowing of long bones' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98986 Label: Coppock-like cataract - 'Coppock-like cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Coppock-like cataract' SubClassOf 'clinical subtype' - 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coppock-like cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Coppock-like cataract' SubClassOf 'clinical subtype' + 'Coppock-like cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_332111 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple meningioma' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial multiple meningioma' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2298 Label: Insulin-resistance syndrome type B - 'Insulin-resistance syndrome type B' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Insulin-resistance syndrome type B' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Insulin-resistance syndrome type B' SubClassOf 'disease' - 'Insulin-resistance syndrome type B' SubClassOf 'has_inheritance' some 'sporadic' - 'Insulin-resistance syndrome type B' SubClassOf 'has_prevalence' some 'Unknown' + 'Insulin-resistance syndrome type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Insulin-resistance syndrome type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Insulin-resistance syndrome type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Insulin-resistance syndrome type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98980 Label: Cogan-Reese syndrome - 'Cogan-Reese syndrome' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' - 'Cogan-Reese syndrome' SubClassOf 'clinical subtype' + 'Cogan-Reese syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' + 'Cogan-Reese syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2299 Label: Aortic arch interruption - 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aortic arch interruption' SubClassOf 'has_inheritance' some 'sporadic' - 'Aortic arch interruption' SubClassOf 'part_of' some 'Aortic malformation' - 'Aortic arch interruption' SubClassOf 'has_prevalence' some 'Unknown' - 'Aortic arch interruption' SubClassOf 'morphological anomaly' + 'Aortic arch interruption' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aortic arch interruption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aortic arch interruption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aortic arch interruption' SubClassOf 'morphological anomaly' + 'Aortic arch interruption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_98981 Label: Essential iris atrophy - 'Essential iris atrophy' SubClassOf 'clinical subtype' - 'Essential iris atrophy' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' + 'Essential iris atrophy' SubClassOf 'clinical subtype' + 'Essential iris atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122340 Label: guanylate cyclase 2D, membrane (retina-specific) - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'gene' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanylate cyclase 2D, membrane (retina-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Central areolar choroidal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2297 Label: Insulin-resistance syndrome type A - 'Insulin-resistance syndrome type A' SubClassOf 'has_prevalence' some 'Unknown' - 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Insulin-resistance syndrome type A' SubClassOf 'disease' - 'Insulin-resistance syndrome type A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function of genetic origin' + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Insulin-resistance syndrome type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Insulin-resistance syndrome type A' SubClassOf 'disease' + 'Insulin-resistance syndrome type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Insulin-resistance syndrome type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1207 Label: Pulmonary atresia with ventricular septal defect - 'Pulmonary atresia with ventricular septal defect' SubClassOf 'morphological anomaly' - 'Pulmonary atresia with ventricular septal defect' SubClassOf 'part_of' some 'Conotruncal heart malformations' + 'Pulmonary atresia with ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Conotruncal heart malformations' + 'Pulmonary atresia with ventricular septal defect' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1205 Label: Mitral atresia - 'Mitral atresia' SubClassOf 'morphological anomaly' - 'Mitral atresia' SubClassOf 'part_of' some 'Congenital mitral valve insufficiency and/or stenosis' + 'Mitral atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital mitral valve insufficiency and/or stenosis' + 'Mitral atresia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1203 Label: Duodenal atresia - 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Duodenal atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Duodenal atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Duodenal atresia' SubClassOf 'morphological anomaly' - 'Duodenal atresia' SubClassOf 'part_of' some 'Non-syndromic gastroduodenal malformation' - 'Duodenal atresia' SubClassOf 'has_inheritance' some 'sporadic' + 'Duodenal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410172) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic gastroduodenal malformation' + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf 'morphological anomaly' + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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(http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duodenal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Duodenal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1202 Label: Larynx atresia - 'Larynx atresia' SubClassOf 'has_prevalence' some 'Unknown' - 'Larynx atresia' SubClassOf 'malformation syndrome' - 'Larynx atresia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Larynx atresia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Larynx atresia' SubClassOf 'part_of' some 'Larynx anomaly' + 'Larynx atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Larynx atresia' SubClassOf 'malformation syndrome' + 'Larynx atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Larynx atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217055 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'part_of' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1201 Label: Atresia of small intestine - 'Atresia of small intestine' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'sporadic' - 'Atresia of small intestine' SubClassOf 'part_of' some 'Primary short bowel syndrome' - 'Atresia of small intestine' SubClassOf 'morphological anomaly' - 'Atresia of small intestine' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Atresia of small intestine' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value 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some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Atresia of small intestine' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atresia of small intestine' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Atresia of small intestine' SubClassOf 'has_inheritance' some 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http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217052 Label: Early-onset non-syndromic cataract - 'Early-onset non-syndromic cataract' SubClassOf 'disease' - 'Early-onset non-syndromic cataract' SubClassOf 'part_of' some 'Rare non-syndromic cataract' + 'Early-onset non-syndromic cataract' SubClassOf 'disease' + 'Early-onset non-syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_1200 Label: Choanal atresia-deafness-cardiac defects-dysmorphism syndrome - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217059 Label: Isolated congenital digital clubbing - 'Isolated congenital digital clubbing' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated congenital digital clubbing' SubClassOf 'part_of' some 'Joint formation defects' - 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated congenital digital clubbing' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenital digital clubbing' SubClassOf 'morphological anomaly' + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated congenital digital clubbing' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated congenital digital clubbing' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenital digital clubbing' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated congenital digital clubbing' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231031 Label: Erythema palmaris hereditarium - 'Erythema palmaris hereditarium' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Erythema palmaris hereditarium' SubClassOf 'disease' - 'Erythema palmaris hereditarium' SubClassOf 'has_prevalence' some 'Unknown' - 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Erythema palmaris hereditarium' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Erythema palmaris hereditarium' SubClassOf 'disease' + 'Erythema palmaris hereditarium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Erythema palmaris hereditarium' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Erythema palmaris hereditarium' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_363611 Label: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'disease' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'disease' + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_323471 Label: multiple PDZ domain protein - 'multiple PDZ domain protein' SubClassOf 'gene' - 'multiple PDZ domain protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital communicating hydrocephalus' + 'multiple PDZ domain protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital communicating hydrocephalus' + 'multiple PDZ domain protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'multiple PDZ domain protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228254 Label: Elastoma - 'Elastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Elastoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Elastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Elastoma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastoma' SubClassOf 'disease' + 'Elastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Elastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Elastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_241999 Label: solute carrier organic anion transporter family, member 1B1 - 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' - 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'gene' + 'solute carrier organic anion transporter family, member 1B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier organic anion transporter family, member 1B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier organic anion transporter family, member 1B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rotor syndrome' Class: http://www.orpha.net/ORDO/Orphanet_321333 Label: DNA-damage-inducible transcript 3 - 'DNA-damage-inducible transcript 3' SubClassOf 'gene' - 'DNA-damage-inducible transcript 3' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'DNA-damage-inducible transcript 3' SubClassOf 'Part of a fusion gene in' some 'Myxoid/round cell liposarcoma' + 'DNA-damage-inducible transcript 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DNA-damage-inducible transcript 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98977 Label: Juvenile glaucoma - 'Juvenile glaucoma' SubClassOf 'disease' - 'Juvenile glaucoma' SubClassOf 'part_of' some 'Primary glaucoma' - 'Juvenile glaucoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juvenile glaucoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Juvenile glaucoma' SubClassOf 'disease' + 'Juvenile glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juvenile glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Juvenile glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_2291 Label: Congenital velopharyngeal incompetence - 'Congenital velopharyngeal incompetence' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital velopharyngeal incompetence' SubClassOf 'malformation syndrome' + 'Congenital velopharyngeal incompetence' SubClassOf 'malformation syndrome' + 'Congenital velopharyngeal incompetence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98976 Label: Congenital glaucoma - 'Congenital glaucoma' SubClassOf 'disease' - 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital glaucoma' SubClassOf 'part_of' some 'Primary glaucoma' - 'Congenital glaucoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glaucoma' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital glaucoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf 'disease' + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital glaucoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210141 Label: Inherited congenital spastic tetraplegia - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Inherited congenital spastic tetraplegia' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inherited congenital spastic tetraplegia' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Inherited congenital spastic tetraplegia' SubClassOf 'disease' - 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Inherited congenital spastic tetraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Inherited congenital spastic tetraplegia' SubClassOf 'disease' + 'Inherited congenital spastic tetraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2290 Label: Microvillus inclusion disease - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development' - 'Microvillus inclusion disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microvillus inclusion disease' SubClassOf 'disease' - 'Microvillus inclusion disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Microvillus inclusion disease' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Microvillus inclusion disease' SubClassOf 'disease' + 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital enteropathy involving intestinal mucosa development' + 'Microvillus inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microvillus inclusion disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_98979 Label: Chandler syndrome - 'Chandler syndrome' SubClassOf 'part_of' some 'Iridocorneal endothelial syndrome' - 'Chandler syndrome' SubClassOf 'clinical subtype' + 'Chandler syndrome' SubClassOf 'clinical subtype' + 'Chandler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Iridocorneal endothelial syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281391 Label: proteasome maturation protein - 'proteasome maturation protein' SubClassOf 'gene' - 'proteasome maturation protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' + 'proteasome maturation protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.13"^^http://www.w3.org/2001/XMLSchema#string + 'proteasome maturation protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proteasome maturation protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210144 Label: Lethal polymalformative syndrome, Boissel type - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'malformation syndrome' - 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'malformation syndrome' + 'Lethal polymalformative syndrome, Boissel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98978 Label: Axenfeld anomaly - 'Axenfeld anomaly' SubClassOf 'morphological anomaly' - 'Axenfeld anomaly' SubClassOf 'part_of' some 'Goniodysgenesis' + 'Axenfeld anomaly' SubClassOf 'morphological anomaly' + 'Axenfeld anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Goniodysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_98994 Label: Total congenital cataract - 'Total congenital cataract' SubClassOf 'clinical subtype' - 'Total congenital cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total congenital cataract' SubClassOf 'clinical subtype' + 'Total congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_75501 Label: Ehlers-Danlos syndrome, fibronectinemic type - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'disease' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'part_of' some 'Ehlers-Danlos syndrome' + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ehlers-Danlos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98995 Label: Zonular cataract - 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zonular cataract' SubClassOf 'clinical subtype' - 'Zonular cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' + 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zonular cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Zonular cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zonular cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98992 Label: Partial congenital cataract - 'Partial congenital cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Partial congenital cataract' SubClassOf 'clinical subtype' + 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Partial congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Partial congenital cataract' SubClassOf 'clinical subtype' + 'Partial congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98993 Label: Posterior polar cataract - 'Posterior polar cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Posterior polar cataract' SubClassOf 'clinical subtype' - 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Posterior polar cataract' SubClassOf 'clinical subtype' + 'Posterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Posterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_98990 Label: Coralliform cataract - 'Coralliform cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Coralliform cataract' SubClassOf 'clinical subtype' + 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Coralliform cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Coralliform cataract' SubClassOf 'clinical subtype' + 'Coralliform cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98991 Label: Nuclear cataract - 'Nuclear cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nuclear cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nuclear cataract' SubClassOf 'clinical subtype' + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nuclear cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Nuclear cataract' SubClassOf 'clinical subtype' + 'Nuclear cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' + 'Nuclear cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_122352 Label: glucuronidase, beta - 'glucuronidase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 7' - 'glucuronidase, beta' SubClassOf 'gene' + 'glucuronidase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucuronidase, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.21"^^http://www.w3.org/2001/XMLSchema#string + 'glucuronidase, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 7' Class: http://www.orpha.net/ORDO/Orphanet_1216 Label: Autosomal dominant congenital benign spinal muscular atrophy - 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'disease' - 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' + 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal hereditary motor neuropathy' + 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_332108 Label: Ets2 repressor factor - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated scaphocephaly' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial lambdoid synostosis' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Crouzon disease' - 'Ets2 repressor factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cloverleaf skull syndrome' - 'Ets2 repressor factor' SubClassOf 'gene' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cloverleaf skull syndrome' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated scaphocephaly' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial lambdoid synostosis' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Crouzon disease' + 'Ets2 repressor factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122354 Label: glycogen synthase 2 (liver) - 'glycogen synthase 2 (liver)' SubClassOf 'gene' - 'glycogen synthase 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to hepatic glycogen synthase deficiency' + 'glycogen synthase 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.2-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycogen synthase 2 (liver)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to hepatic glycogen synthase deficiency' + 'glycogen synthase 2 (liver)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1215 Label: Autosomal dominant optic atrophy plus syndrome - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_228264 Label: Papular elastorrhexis - 'Papular elastorrhexis' SubClassOf 'disease' - 'Papular elastorrhexis' SubClassOf 'has_inheritance' some 'sporadic' - 'Papular elastorrhexis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Papular elastorrhexis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' - 'Papular elastorrhexis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Papular elastorrhexis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Papular elastorrhexis' SubClassOf 'disease' + 'Papular elastorrhexis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Papular elastorrhexis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with decreased elastic tissue' + 'Papular elastorrhexis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_122356 Label: hydroxyacyl-CoA dehydrogenase - 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' - 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'gene' + 'hydroxyacyl-CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' + 'hydroxyacyl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22-q26"^^http://www.w3.org/2001/XMLSchema#string + 'hydroxyacyl-CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1217 Label: Spinal atrophy - ophthalmoplegia - pyramidal syndrome - 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'part_of' some 'Generalized bulbospinal muscular atrophy' - 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'disease' + 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized bulbospinal muscular atrophy' + 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363618 Label: LMNA-related cardiocutaneous progeria syndrome - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Rare genetic cardiac disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Rare cardiac disease' - 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'part_of' some 'Premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac disease' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'disease' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_1214 Label: Progressive hemifacial atrophy - 'Progressive hemifacial atrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Progressive hemifacial atrophy' SubClassOf 'disease' - 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Progressive hemifacial atrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progressive hemifacial atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Brain inflammatory disease' + 'Progressive hemifacial atrophy' SubClassOf 'disease' + 'Progressive hemifacial atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Progressive hemifacial atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Progressive hemifacial atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_217046 Label: Autosomal recessive childhood-onset cortical cataract - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'clinical subtype' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_210136 Label: Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'disease' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' - 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to adulthood' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'disease' + 'Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1208 Label: Pulmonary atresia - intact ventricular septum - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'morphological anomaly' - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary atresia - intact ventricular septum' SubClassOf 'part_of' some 'Hypoplastic right heart syndrome' + 'Pulmonary atresia - intact ventricular septum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary atresia - intact ventricular septum' SubClassOf 'morphological anomaly' + 'Pulmonary atresia - intact ventricular septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Pulmonary atresia - intact ventricular septum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Pulmonary atresia - intact ventricular septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoplastic right heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363623 Label: Autosomal recessive limb-girdle muscular dystrophy type 2T - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1209 Label: Tricuspid atresia - 'Tricuspid atresia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tricuspid atresia' SubClassOf 'morphological anomaly' - 'Tricuspid atresia' SubClassOf 'part_of' some 'Congenital tricuspid malformation' - 'Tricuspid atresia' SubClassOf 'has_inheritance' some 'sporadic' + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf 'morphological anomaly' + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Tricuspid atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital tricuspid malformation' + 'Tricuspid atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Tricuspid atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217049 Label: Rare non-syndromic cataract - 'Rare non-syndromic cataract' SubClassOf 'group of disorders' + 'Rare non-syndromic cataract' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229717 Label: Isolated agammaglobulinemia - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated agammaglobulinemia' SubClassOf 'part_of' some 'Agammaglobulinemia' - 'Isolated agammaglobulinemia' SubClassOf 'disease' - 'Isolated agammaglobulinemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Agammaglobulinemia' + 'Isolated agammaglobulinemia' SubClassOf 'disease' + 'Isolated agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210133 Label: Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'disease' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'disease' + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98989 Label: Cerulean cataract - 'Cerulean cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cerulean cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' - 'Cerulean cataract' SubClassOf 'clinical subtype' + 'Cerulean cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' + 'Cerulean cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cerulean cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98988 Label: Anterior polar cataract - 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anterior polar cataract' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' - 'Anterior polar cataract' SubClassOf 'clinical subtype' + 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anterior polar cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anterior polar cataract' SubClassOf 'clinical subtype' + 'Anterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_98987 Label: Cataract, Hutterite type - 'Cataract, Hutterite type' SubClassOf 'clinical subtype' - 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract, Hutterite type' SubClassOf 'part_of' some 'Non-syndromic congenital cataract' + 'Cataract, Hutterite type' SubClassOf 'clinical subtype' + 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract, Hutterite type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract, Hutterite type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_35981 Label: Polymicrogyria - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Polymicrogyria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Polymicrogyria' SubClassOf 'has_inheritance' some 'sporadic' - 'Polymicrogyria' SubClassOf 'group of disorders' - 'Polymicrogyria' SubClassOf 'has_prevalence' some 'Unknown' + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polymicrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Polymicrogyria' SubClassOf 'group of disorders' + 'Polymicrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_183770 Label: Rare genetic immune disease - 'Rare genetic immune disease' SubClassOf 'group of disorders' + 'Rare genetic immune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122364 Label: hepcidin antimicrobial peptide - 'hepcidin antimicrobial peptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' - 'hepcidin antimicrobial peptide' SubClassOf 'gene' + 'hepcidin antimicrobial peptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hepcidin antimicrobial peptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 2' + 'hepcidin antimicrobial peptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2274 Label: Ichthyosis - hepatosplenomegaly - cerebellar degeneration - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_122361 Label: histidine ammonia-lyase - 'histidine ammonia-lyase' SubClassOf 'gene' - 'histidine ammonia-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histidinemia' + 'histidine ammonia-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q22-q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'histidine ammonia-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'histidine ammonia-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histidinemia' Class: http://www.orpha.net/ORDO/Orphanet_2272 Label: Ichthyosis - oral and digital anomalies - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ichthyosis - oral and digital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis - oral and digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ichthyosis - oral and digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2273 Label: Ichthyosis follicularis - alopecia - photophobia - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'sporadic' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'X-linked ichthyosis syndrome' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'part_of' some 'Alopecia' - 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'disease' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked ichthyosis syndrome' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183757 Label: Rare genetic intellectual disability - 'Rare genetic intellectual disability' SubClassOf 'group of disorders' + 'Rare genetic intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2271 Label: Congenital ichthyosis - microcephalus - tetraplegia - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'disease' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'disease' + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' Class: http://www.orpha.net/ORDO/Orphanet_400025 Label: Female infertility due to an implantation defect of genetic origin - 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217031 Label: Obesity due to MC3R deficiency - 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Obesity due to MC3R deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' - 'Obesity due to MC3R deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Obesity due to MC3R deficiency' SubClassOf 'disease' + 'Obesity due to MC3R deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Obesity due to MC3R deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to MC3R deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Obesity due to MC3R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_400022 Label: Rare female infertility due to an anomaly of ovarian function of genetic origin - 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2278 Label: Ichthyosis - intellectual disability - dwarfism - renal impairment - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'malformation syndrome' - 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210128 Label: Urocanic aciduria - 'Urocanic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Urocanic aciduria' SubClassOf 'disease' - 'Urocanic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Urocanic aciduria' SubClassOf 'part_of' some 'Disorder of histidine metabolism' + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of histidine metabolism' + 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Urocanic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Urocanic aciduria' SubClassOf 'disease' + 'Urocanic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Urocanic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Urocanic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_324581 Label: Benign Samaritan congenital myopathy - 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Benign Samaritan congenital myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Benign Samaritan congenital myopathy' SubClassOf 'disease' - 'Benign Samaritan congenital myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Benign Samaritan congenital myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Benign Samaritan congenital myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Benign Samaritan congenital myopathy' SubClassOf 'disease' + 'Benign Samaritan congenital myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Benign Samaritan congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Benign Samaritan congenital myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_324588 Label: Familial dyskinesia and facial myokymia - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial dyskinesia and facial myokymia' SubClassOf 'part_of' some 'Rare paroxysmal movement disorder' - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial dyskinesia and facial myokymia' SubClassOf 'disease' - 'Familial dyskinesia and facial myokymia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial dyskinesia and facial myokymia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare paroxysmal movement disorder' + 'Familial dyskinesia and facial myokymia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial dyskinesia and facial myokymia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial dyskinesia and facial myokymia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial dyskinesia and facial myokymia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178082 Label: radial spoke head 4 homolog A (Chlamydomonas) - 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'gene' - 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'radial spoke head 4 homolog A (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228236 Label: Linear focal dermal elastosis - 'Linear focal dermal elastosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Linear focal dermal elastosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Linear focal dermal elastosis' SubClassOf 'disease' - 'Linear focal dermal elastosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Linear focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Linear focal dermal elastosis' SubClassOf 'disease' + 'Linear focal dermal elastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Linear focal dermal elastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Linear focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Linear focal dermal elastosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324585 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231013 Label: Congenital trigeminal anesthesia - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Neuro-ophthalmological disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Genetic neuro-ophthalmological disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital trigeminal anesthesia' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Congenital trigeminal anesthesia' SubClassOf 'disease' - 'Congenital trigeminal anesthesia' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital trigeminal anesthesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuro-ophthalmological disease' + 'Congenital trigeminal anesthesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital trigeminal anesthesia' SubClassOf 'disease' + 'Congenital trigeminal anesthesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neuro-ophthalmological disease' Class: http://www.orpha.net/ORDO/Orphanet_210122 Label: Congenital alveolar capillary dysplasia - 'Congenital alveolar capillary dysplasia' SubClassOf 'disease' - 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital alveolar capillary dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital alveolar capillary dysplasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - 'Congenital alveolar capillary dysplasia' SubClassOf 'part_of' some 'Genetic interstitial lung disease' + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital alveolar capillary dysplasia' SubClassOf 'disease' + 'Congenital alveolar capillary dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital alveolar capillary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital alveolar capillary dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183763 Label: Rare genetic intellectual disability with developmental anomaly - 'Rare genetic intellectual disability with developmental anomaly' SubClassOf 'group of disorders' + 'Rare genetic intellectual disability with developmental anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217467 Label: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'disease' + 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' Class: http://www.orpha.net/ORDO/Orphanet_2285 Label: Primary basilar impression - 'Primary basilar impression' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary basilar impression' SubClassOf 'part_of' some 'Medullar disease' - 'Primary basilar impression' SubClassOf 'morphological anomaly' - 'Primary basilar impression' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary basilar impression' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary basilar impression' SubClassOf 'part_of' some 'Rare genetic medullar disease' + 'Primary basilar impression' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary basilar impression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' + 'Primary basilar impression' SubClassOf 'morphological anomaly' + 'Primary basilar impression' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary basilar impression' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_2286 Label: Solitary median maxillary central incisor syndrome - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'clinical subtype' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'clinical subtype' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Solitary median maxillary central incisor syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Solitary median maxillary central incisor syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_2287 Label: Fused mandibular incisors - 'Fused mandibular incisors' SubClassOf 'morphological anomaly' - 'Fused mandibular incisors' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Fused mandibular incisors' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122374 Label: hemoglobin, alpha 2 - 'hemoglobin, alpha 2' SubClassOf 'gene' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' - 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, alpha 2' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' + 'hemoglobin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' + 'hemoglobin, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, alpha 2' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_400018 Label: Rare female infertility due to adrenal disorder of genetic origin - 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2282 Label: Dysmorphism - short stature - deafness - disorder of sex development - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Syndrome with 46,XY disorder of sex development' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'malformation syndrome' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XY disorder of sex development' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'malformation syndrome' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_122370 Label: HCLS1 associated protein X-1 - 'HCLS1 associated protein X-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kostmann syndrome' - 'HCLS1 associated protein X-1' SubClassOf 'gene' + 'HCLS1 associated protein X-1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kostmann syndrome' + 'HCLS1 associated protein X-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HCLS1 associated protein X-1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_400011 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2289 Label: Neuronal intranuclear inclusion disease - 'Neuronal intranuclear inclusion disease' SubClassOf 'disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare dementia' - 'Neuronal intranuclear inclusion disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf 'disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122376 Label: hemoglobin, beta - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heinz body anemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin D disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia intermedia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - beta-thalassemia disease' - 'hemoglobin, beta' SubClassOf 'gene' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell anemia' - 'hemoglobin, beta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin C disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin D disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin E disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E disease' - 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia major' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heinz body anemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia intermedia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin D disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E - beta-thalassemia' + 'hemoglobin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - beta-thalassemia disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell anemia' + 'hemoglobin, beta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin C disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin C disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin D disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sickle cell - hemoglobin E disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin E disease' + 'hemoglobin, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-thalassemia major' Class: http://www.orpha.net/ORDO/Orphanet_122378 Label: holocytochrome c synthase - 'holocytochrome c synthase' SubClassOf 'gene' - 'holocytochrome c synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' + 'holocytochrome c synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22"^^http://www.w3.org/2001/XMLSchema#string + 'holocytochrome c synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'holocytochrome c synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228240 Label: Elastoderma - 'Elastoderma' SubClassOf 'disease' - 'Elastoderma' SubClassOf 'has_inheritance' some 'sporadic' - 'Elastoderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Elastoderma' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastoderma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Elastoderma' SubClassOf 'disease' + 'Elastoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Elastoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Elastoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Elastoderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_228243 Label: Elastofibroma dorsi - 'Elastofibroma dorsi' SubClassOf 'disease' - 'Elastofibroma dorsi' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Elastofibroma dorsi' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Elastofibroma dorsi' SubClassOf 'has_inheritance' some 'sporadic' + 'Elastofibroma dorsi' SubClassOf 'disease' + 'Elastofibroma dorsi' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Elastofibroma dorsi' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Elastofibroma dorsi' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_210115 Label: Sterile multifocal osteomyelitis with periostitis and pustulosis - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'disease' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'disease' + 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_217023 Label: Atypical hemolytic-uremic syndrome with thrombomodulin anomaly - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217026 Label: Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'malformation syndrome' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'malformation syndrome' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_323464 Label: zinc finger protein 141 - 'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' - 'zinc finger protein 141' SubClassOf 'gene' + 'zinc finger protein 141' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral' + 'zinc finger protein 141' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228247 Label: Acquired pseudoxanthoma elasticum - 'Acquired pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'disease' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acquired pseudoxanthoma elasticum' SubClassOf 'disease' + 'Acquired pseudoxanthoma elasticum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired pseudoxanthoma elasticum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' Class: http://www.orpha.net/ORDO/Orphanet_210110 Label: Intermediate osteopetrosis - 'Intermediate osteopetrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intermediate osteopetrosis' SubClassOf 'malformation syndrome' - 'Intermediate osteopetrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intermediate osteopetrosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Intermediate osteopetrosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Intermediate osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Intermediate osteopetrosis' SubClassOf 'malformation syndrome' + 'Intermediate osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intermediate osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_159590 Label: fragile X mental retardation associated 3 - 'fragile X mental retardation associated 3' SubClassOf 'gene' - 'fragile X mental retardation associated 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' + 'fragile X mental retardation associated 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'fragile X mental retardation associated 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'fragile X mental retardation associated 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93589 Label: Late-onset autosomal recessive medullary cystic kidney disease - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Late-onset autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_93587 Label: Familial cystic renal disease - 'Familial cystic renal disease' SubClassOf 'group of disorders' + 'Familial cystic renal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363665 Label: Acroosteolysis-keloid-like lesions-premature aging syndrome - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'disease' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'disease' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228221 Label: Acquired dermis elastic tissue disorder with decreased elastic tissue - 'Acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294049 Label: Reunion island's Larsen syndrome - 'Reunion island's Larsen syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Reunion island's Larsen syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Reunion island's Larsen syndrome' SubClassOf 'disease' - 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Reunion island's Larsen syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Reunion island's Larsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Reunion island's Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Reunion island's Larsen syndrome' SubClassOf 'disease' + 'Reunion island's Larsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Reunion island's Larsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_228224 Label: Acquired dermis elastic tissue disorder with increased elastic tissue - 'Acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220489 Label: Rare hereditary hemochromatosis - 'Rare hereditary hemochromatosis' SubClassOf 'group of disorders' + 'Rare hereditary hemochromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rare hereditary hemochromatosis' SubClassOf 'group of disorders' + 'Rare hereditary hemochromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare hereditary hemochromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_160001 Label: dystonia 13, torsion - 'dystonia 13, torsion' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT13 type' - 'dystonia 13, torsion' SubClassOf 'gene' + 'dystonia 13, torsion' SubClassOf 'Role in the phenotype of' some 'Primary dystonia, DYT13 type' + 'dystonia 13, torsion' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 13, torsion' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_356123 Label: DnaJ (Hsp40) homolog, subfamily C, member 6 - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'gene' - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228227 Label: Late-onset focal dermal elastosis - 'Late-onset focal dermal elastosis' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Late-onset focal dermal elastosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Late-onset focal dermal elastosis' SubClassOf 'disease' - 'Late-onset focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Late-onset focal dermal elastosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Late-onset focal dermal elastosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Late-onset focal dermal elastosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Late-onset focal dermal elastosis' SubClassOf 'disease' + 'Late-onset focal dermal elastosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Late-onset focal dermal elastosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_160003 Label: cytochrome P450, family 4, subfamily F, polypeptide 22 - 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' - 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'gene' + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis' + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 4, subfamily F, polypeptide 22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_141099 Label: Proboscis lateralis - 'Proboscis lateralis' SubClassOf 'has_prevalence' some 'Unknown' - 'Proboscis lateralis' SubClassOf 'malformation syndrome' - 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Proboscis lateralis' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Proboscis lateralis' SubClassOf 'malformation syndrome' + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Proboscis lateralis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_363659 Label: 20q11.2 microduplication syndrome - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '20q11.2 microduplication syndrome' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 20' - '20q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 20' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '20q11.2 microduplication syndrome' SubClassOf 'malformation syndrome' + '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2388 Label: Choreoacanthocytosis - 'Choreoacanthocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Neuroacanthocytosis' - 'Choreoacanthocytosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Choreoacanthocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Choreoacanthocytosis' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Choreoacanthocytosis' SubClassOf 'disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with epilepsy' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Choreoacanthocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuroacanthocytosis' + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Choreoacanthocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Choreoacanthocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141091 Label: Polyrrhinia - 'Polyrrhinia' SubClassOf 'malformation syndrome' - 'Polyrrhinia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Polyrrhinia' SubClassOf 'has_prevalence' some 'Unknown' - 'Polyrrhinia' SubClassOf 'has_inheritance' some 'sporadic' - 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polyrrhinia' SubClassOf 'malformation syndrome' + 'Polyrrhinia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polyrrhinia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2387 Label: Leukonychia totalis - 'Leukonychia totalis' SubClassOf 'part_of' some 'Isolated nail anomaly' - 'Leukonychia totalis' SubClassOf 'disease' + 'Leukonychia totalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated nail anomaly' + 'Leukonychia totalis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2386 Label: Leukoencephalopathy-palmoplantar keratoderma syndrome - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93593 Label: Nephropathy secondary to a storage or other metabolic disease - 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'group of disorders' + 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93594 Label: Alpha-1-antichymotrypsin deficiency - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_93591 Label: Infantile autosomal recessive medullary cystic kidney disease - 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' - 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' + 'Infantile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159592 Label: fibronectin 1 - 'fibronectin 1' SubClassOf 'gene' - 'fibronectin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibronectin glomerulopathy' + 'fibronectin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'fibronectin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibronectin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibronectin glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_93592 Label: Juvenile autosomal recessive medullary cystic kidney disease - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'part_of' some 'Autosomal recessive medullary cystic kidney disease' - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive medullary cystic kidney disease' + 'Juvenile autosomal recessive medullary cystic kidney disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2382 Label: Lennox-Gastaut syndrome - 'Lennox-Gastaut syndrome' SubClassOf 'disease' - 'Lennox-Gastaut syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Lennox-Gastaut syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Lennox-Gastaut syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Lennox-Gastaut syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Lennox-Gastaut syndrome' SubClassOf 'disease' + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Lennox-Gastaut syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Lennox-Gastaut syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_141096 Label: Supernumerary nostril - 'Supernumerary nostril' SubClassOf 'malformation syndrome' - 'Supernumerary nostril' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Supernumerary nostril' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Supernumerary nostril' SubClassOf 'malformation syndrome' + 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Supernumerary nostril' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Supernumerary nostril' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_2380 Label: Legg-Calv�-Perthes disease - 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some 'Osteochondrosis' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Legg-Calv�-Perthes disease' SubClassOf 'disease' - 'Legg-Calv�-Perthes disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Legg-Calv�-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteochondrosis' + 'Legg-Calv�-Perthes disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Legg-Calv�-Perthes disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Legg-Calv�-Perthes disease' SubClassOf 'disease' + 'Legg-Calv�-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_303168 Label: LPS-responsive vesicle trafficking, beach and anchor containing - 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'gene' + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'LPS-responsive vesicle trafficking, beach and anchor containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225264 Label: latent transforming growth factor beta binding protein 4 - 'latent transforming growth factor beta binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' - 'latent transforming growth factor beta binding protein 4' SubClassOf 'Modifying germline mutation in' some 'Duchenne muscular dystrophy' - 'latent transforming growth factor beta binding protein 4' SubClassOf 'gene' + 'latent transforming growth factor beta binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' + 'latent transforming growth factor beta binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'latent transforming growth factor beta binding protein 4' SubClassOf 'Modifying germline mutation in' some 'Duchenne muscular dystrophy' + 'latent transforming growth factor beta binding protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95626 Label: Acquired central diabetes insipidus - 'Acquired central diabetes insipidus' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired central diabetes insipidus' SubClassOf 'part_of' some 'Central diabetes insipidus' - 'Acquired central diabetes insipidus' SubClassOf 'clinical subtype' - 'Acquired central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acquired central diabetes insipidus' SubClassOf 'clinical subtype' + 'Acquired central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central diabetes insipidus' + 'Acquired central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_228218 Label: Acquired dermis elastic tissue disorder - 'Acquired dermis elastic tissue disorder' SubClassOf 'group of disorders' + 'Acquired dermis elastic tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93598 Label: Primary hyperoxaluria type 1 - 'Primary hyperoxaluria type 1' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Primary hyperoxaluria type 1' SubClassOf 'part_of' some 'Primary hyperoxaluria' - 'Primary hyperoxaluria type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary hyperoxaluria type 1' SubClassOf 'part_of' some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' - 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.29"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' + 'Primary hyperoxaluria type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.015"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93599 Label: Primary hyperoxaluria type 2 - 'Primary hyperoxaluria type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary hyperoxaluria type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary hyperoxaluria type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' - 'Primary hyperoxaluria type 2' SubClassOf 'part_of' some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary hyperoxaluria type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary hyperoxaluria type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hyperoxaluria' + 'Primary hyperoxaluria type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_363654 Label: X-linked parkinsonism-spasticity syndrome - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'disease' - 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'disease' + 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_356136 Label: mitochondrial ribosomal protein L44 - 'mitochondrial ribosomal protein L44' SubClassOf 'gene' - 'mitochondrial ribosomal protein L44' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' + 'mitochondrial ribosomal protein L44' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3-p24.1"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein L44' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' + 'mitochondrial ribosomal protein L44' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228215 Label: Genetic dermis elastic tissue disorder - 'Genetic dermis elastic tissue disorder' SubClassOf 'group of disorders' + 'Genetic dermis elastic tissue disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160006 Label: retina and anterior neural fold homeobox - 'retina and anterior neural fold homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'retina and anterior neural fold homeobox' SubClassOf 'gene' + 'retina and anterior neural fold homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retina and anterior neural fold homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'retina and anterior neural fold homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q21.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2378 Label: Laurin-Sandrow syndrome - 'Laurin-Sandrow syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Laurin-Sandrow syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Laurin-Sandrow syndrome' SubClassOf 'malformation syndrome' + 'Laurin-Sandrow syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Laurin-Sandrow syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Laurin-Sandrow syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363649 Label: Mandibular hypoplasia-deafness-progeroid syndrome - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'disease' - 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2377 Label: Laurence-Moon syndrome - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Laurence-Moon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laurence-Moon syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Laurence-Moon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Laurence-Moon syndrome' SubClassOf 'malformation syndrome' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Laurence-Moon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Laurence-Moon syndrome' SubClassOf 'malformation syndrome' + 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Laurence-Moon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_160008 Label: A kinase (PRKA) anchor protein 9 - 'A kinase (PRKA) anchor protein 9' SubClassOf 'gene' - 'A kinase (PRKA) anchor protein 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'A kinase (PRKA) anchor protein 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'A kinase (PRKA) anchor protein 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'A kinase (PRKA) anchor protein 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2379 Label: Early-onset parkinsonism - intellectual disability - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Early-onset parkinsonism - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf 'disease' + 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Early-onset parkinsonism - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2374 Label: Congenital laryngeal web - 'Congenital laryngeal web' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital laryngeal web' SubClassOf 'malformation syndrome' + 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Congenital laryngeal web' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2373 Label: Congenital laryngomalacia - 'Congenital laryngomalacia' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital laryngomalacia' SubClassOf 'malformation syndrome' + 'Congenital laryngomalacia' SubClassOf 'malformation syndrome' + 'Congenital laryngomalacia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2375 Label: Laryngeal abductor paralysis - intellectual disability - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'malformation syndrome' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'malformation syndrome' + 'Laryngeal abductor paralysis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_332034 Label: T-box 6 - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spondylocostal dysostosis' - 'T-box 6' SubClassOf 'gene' - 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' + 'T-box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'T-box 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MURCS association' + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spondylocostal dysostosis' + 'T-box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Mayer-Rokitansky-K�ster-Hauser syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2370 Label: Larsen-like osseous dysplasia - short stature - 'Larsen-like osseous dysplasia - short stature' SubClassOf 'malformation syndrome' - 'Larsen-like osseous dysplasia - short stature' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Larsen-like osseous dysplasia - short stature' SubClassOf 'malformation syndrome' + 'Larsen-like osseous dysplasia - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_2372 Label: Laryngocele - 'Laryngocele' SubClassOf 'malformation syndrome' - 'Laryngocele' SubClassOf 'part_of' some 'Larynx anomaly' + 'Laryngocele' SubClassOf 'malformation syndrome' + 'Laryngocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_217454 Label: Rare hereditary thrombophilia - 'Rare hereditary thrombophilia' SubClassOf 'group of disorders' + 'Rare hereditary thrombophilia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2371 Label: Lethal Larsen-like syndrome - 'Lethal Larsen-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal Larsen-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal Larsen-like syndrome' SubClassOf 'malformation syndrome' - 'Lethal Larsen-like syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Lethal Larsen-like syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' + 'Lethal Larsen-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Lethal Larsen-like syndrome' SubClassOf 'malformation syndrome' + 'Lethal Larsen-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Lethal Larsen-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_183675 Label: Recurrent infections associated with rare immunoglobulin isotypes deficiency - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'group of disorders' - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'group of disorders' + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_352687 Label: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'group of disorders' + 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93564 Label: Pediatric polyarteritis nodosa - 'Pediatric polyarteritis nodosa' SubClassOf 'clinical subtype' - 'Pediatric polyarteritis nodosa' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pediatric polyarteritis nodosa' SubClassOf 'part_of' some 'Polyarteritis nodosa' + 'Pediatric polyarteritis nodosa' SubClassOf 'clinical subtype' + 'Pediatric polyarteritis nodosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pediatric polyarteritis nodosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyarteritis nodosa' Class: http://www.orpha.net/ORDO/Orphanet_363680 Label: 2p13.2 microdeletion syndrome - '2p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 2' - '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2p13.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '2p13.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '2p13.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2p13.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '2p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_93569 Label: Polymyalgia rheumatica - 'Polymyalgia rheumatica' SubClassOf 'disease' - 'Polymyalgia rheumatica' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Polymyalgia rheumatica' SubClassOf 'disease' + 'Polymyalgia rheumatica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_294060 Label: Multiple pterygium syndrome - 'Multiple pterygium syndrome' SubClassOf 'group of disorders' + 'Multiple pterygium syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93568 Label: Juvenile polymyositis - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Juvenile polymyositis' SubClassOf 'disease' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Juvenile idiopathic inflammatory myopathy' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Juvenile polymyositis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Juvenile polymyositis' SubClassOf 'disease' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile polymyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_57782 Label: Mazabraud syndrome - 'Mazabraud syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Mazabraud syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Mazabraud syndrome' SubClassOf 'malformation syndrome' - 'Mazabraud syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mazabraud syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mazabraud syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mazabraud syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Mazabraud syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mazabraud syndrome' SubClassOf 'malformation syndrome' + 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_352682 Label: Cobblestone lissencephaly without muscular or ocular involvement - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'part_of' some 'Cobblestone lissencephaly' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'disease' - 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cobblestone lissencephaly' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'disease' + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_363686 Label: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'disease' - 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'disease' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_356141 Label: additional sex combs like transcriptional regulator 3 - 'additional sex combs like transcriptional regulator 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' - 'additional sex combs like transcriptional regulator 3' SubClassOf 'gene' + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11"^^http://www.w3.org/2001/XMLSchema#string + 'additional sex combs like transcriptional regulator 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160020 Label: anaplastic lymphoma receptor tyrosine kinase - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'ALK-positive anaplastic large cell lymphoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'gene' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'ALK-positive large B-cell lymphoma' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Neuroblastoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p23"^^http://www.w3.org/2001/XMLSchema#string + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'ALK-positive anaplastic large cell lymphoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'ALK-positive large B-cell lymphoma' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'anaplastic lymphoma receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_2369 Label: Limb body wall complex - 'Limb body wall complex' SubClassOf 'has_inheritance' some 'sporadic' - 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Limb body wall complex' SubClassOf 'malformation syndrome' - 'Limb body wall complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Limb body wall complex' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Limb body wall complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Limb body wall complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limb body wall complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Limb body wall complex' SubClassOf 'malformation syndrome' + 'Limb body wall complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Limb body wall complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2368 Label: Gastroschisis - 'Gastroschisis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Gastroschisis' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' - 'Gastroschisis' SubClassOf 'morphological anomaly' - 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Gastroschisis' SubClassOf 'part_of' some 'Primary short bowel syndrome' - 'Gastroschisis' SubClassOf 'has_inheritance' some 'sporadic' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'morphological anomaly' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "41.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "29.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "36.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary short bowel syndrome' + 'Gastroschisis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gastroschisis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Gastroschisis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_160018 Label: sodium channel, voltage-gated, type IV, beta subunit - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183669 Label: Agammaglobulinemia - 'Agammaglobulinemia' SubClassOf 'group of disorders' + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.205"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf 'group of disorders' + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.134"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.071"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.094"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.287"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.077"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.045"^^http://www.w3.org/2001/XMLSchema#string) + 'Agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.192"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93573 Label: Thrombotic microangiopathy - 'Thrombotic microangiopathy' SubClassOf 'group of disorders' + 'Thrombotic microangiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2364 Label: Glycogen storage disease due to lactate dehydrogenase deficiency - 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93571 Label: Dense deposit disease - 'Dense deposit disease' SubClassOf 'part_of' some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' - 'Dense deposit disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dense deposit disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Dense deposit disease' SubClassOf 'histopathological subtype' - 'Dense deposit disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dense deposit disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dense deposit disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'Dense deposit disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dense deposit disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dense deposit disease' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2363 Label: Lacrimoauriculodentodigital syndrome - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'EEC syndrome and related syndrome' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'malformation syndrome' - 'Lacrimoauriculodentodigital syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'EEC syndrome and related syndrome' + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'malformation syndrome' + 'Lacrimoauriculodentodigital syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_183666 Label: Hyper-IgM syndrome without susceptibility to opportunistic infections - 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'disease' - 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_93576 Label: Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly - 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93575 Label: Atypical hemolytic-uremic syndrome with C3 anomaly - 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_57777 Label: Cirrhotic cardiomyopathy - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial dilated cardiomyopathy' - 'Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Cirrhotic cardiomyopathy' SubClassOf 'disease' - 'Cirrhotic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial dilated cardiomyopathy' + 'Cirrhotic cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial hypertrophic cardiomyopathy' + 'Cirrhotic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cirrhotic cardiomyopathy' SubClassOf 'disease' + 'Cirrhotic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_93578 Label: Atypical hemolytic-uremic syndrome with B factor anomaly - 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281884 Label: nodal growth differentiation factor - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' - 'nodal growth differentiation factor' SubClassOf 'gene' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs inversus totalis' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus' + 'nodal growth differentiation factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'nodal growth differentiation factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'nodal growth differentiation factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_220493 Label: Joubert syndrome with ocular defect - 'Joubert syndrome with ocular defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'disease' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Joubert syndrome with ocular defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with ocular defect' SubClassOf 'disease' + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Joubert syndrome with ocular defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Joubert syndrome with ocular defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_363670 Label: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha - 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'Modifying germline mutation in' some 'Amyotrophic lateral sclerosis' - 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'gene' + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf 'Modifying germline mutation in' some 'Amyotrophic lateral sclerosis' + 'peroxisome proliferator-activated receptor gamma, coactivator 1 alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159580 Label: fibroblast growth factor 3 - 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' - 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Otodental syndrome' - 'fibroblast growth factor 3' SubClassOf 'gene' - 'fibroblast growth factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness with labyrinthine aplasia, microtia, and microdontia' + 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Oculootodental syndrome' + 'fibroblast growth factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13"^^http://www.w3.org/2001/XMLSchema#string + 'fibroblast growth factor 3' SubClassOf 'Role in the phenotype of' some 'Otodental syndrome' + 'fibroblast growth factor 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fibroblast growth factor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Deafness with labyrinthine aplasia, microtia, and microdontia' Class: http://www.orpha.net/ORDO/Orphanet_225243 Label: U6 snRNA biogenesis 1 - 'U6 snRNA biogenesis 1' SubClassOf 'gene' - 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Poikiloderma with neutropenia' - 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'U6 snRNA biogenesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string + 'U6 snRNA biogenesis 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Poikiloderma with neutropenia' + 'U6 snRNA biogenesis 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' Class: http://www.orpha.net/ORDO/Orphanet_93579 Label: Atypical hemolytic-uremic syndrome with H factor anomaly - 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_183681 Label: Functional neutrophil defect - 'Functional neutrophil defect' SubClassOf 'group of disorders' + 'Functional neutrophil defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label: nanos homolog 1 (Drosophila) - 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' - 'nanos homolog 1 (Drosophila)' SubClassOf 'gene' - 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_308998 Label: Disorder of glyoxylate metabolism - 'Disorder of glyoxylate metabolism' SubClassOf 'group of disorders' + 'Disorder of glyoxylate metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294057 Label: Rare nevus - 'Rare nevus' SubClassOf 'group of disorders' + 'Rare nevus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363677 Label: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Myopathy with eye involvement' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'disease' - 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'disease' + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myopathy with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_220497 Label: Joubert syndrome with renal defect - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' - 'Joubert syndrome with renal defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with renal defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with renal defect' SubClassOf 'disease' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with renal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with renal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with renal defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2356 Label: Arachnoid cyst - 'Arachnoid cyst' SubClassOf 'part_of' some 'Central nervous system cystic malformation' - 'Arachnoid cyst' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arachnoid cyst' SubClassOf 'has_inheritance' some 'sporadic' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Arachnoid cyst' SubClassOf 'morphological anomaly' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Pituitary hormone deficiency from meningeal origin' - 'Arachnoid cyst' SubClassOf 'has_prevalence' some 'Unknown' - 'Arachnoid cyst' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arachnoid cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arachnoid cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arachnoid cyst' SubClassOf 'morphological anomaly' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from meningeal origin' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system cystic malformation' + 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic central nervous system malformation' + 'Arachnoid cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2357 Label: Bronchogenic cyst - 'Bronchogenic cyst' SubClassOf 'has_prevalence' some 'Unknown' - 'Bronchogenic cyst' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Respiratory malformation' - 'Bronchogenic cyst' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Bronchogenic cyst' SubClassOf 'morphological anomaly' + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Bronchogenic cyst' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bronchogenic cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Bronchogenic cyst' SubClassOf 'morphological anomaly' + 'Bronchogenic cyst' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_308993 Label: Glycerol kinase deficiency - 'Glycerol kinase deficiency' SubClassOf 'group of disorders' + 'Glycerol kinase deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93580 Label: Atypical hemolytic-uremic syndrome with I factor anomaly - 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93581 Label: Atypical hemolytic-uremic syndrome with anti-factor H antibodies - 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'etiological subtype' - 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'part_of' some 'Atypical hemolytic-uremic syndrome' + 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'etiological subtype' + 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atypical hemolytic-uremic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93583 Label: Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Rare genetic coagulation disorder' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Genetic thrombotic microangiopathy' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'clinical subtype' - 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'part_of' some 'Thrombotic thrombocytopenic purpura' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic thrombocytopenic purpura' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic thrombotic microangiopathy' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'clinical subtype' + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic coagulation disorder' Class: http://www.orpha.net/ORDO/Orphanet_2351 Label: Kousseff syndrome - 'Kousseff syndrome' SubClassOf 'malformation syndrome' - 'Kousseff syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kousseff syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' + 'Kousseff syndrome' SubClassOf 'malformation syndrome' + 'Kousseff syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kousseff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kousseff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_268795 Label: BRCA1/BRCA2-containing complex, subunit 3 - 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'gene' - 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' + 'BRCA1/BRCA2-containing complex, subunit 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183678 Label: Hermansky-Pudlak syndrome with neutropenia - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Immunodeficiency syndrome with hypopigmentation' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Hermansky-Pudlak syndrome' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hermansky-Pudlak syndrome' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with hypopigmentation' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93585 Label: Acquired thrombotic thrombocytopenic purpura - 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'clinical subtype' - 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Thrombotic thrombocytopenic purpura' + 'Acquired thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic thrombocytopenic purpura' + 'Acquired thrombotic thrombocytopenic purpura' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159586 Label: four and a half LIM domains 2 - 'four and a half LIM domains 2' SubClassOf 'gene' - 'four and a half LIM domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'four and a half LIM domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'four and a half LIM domains 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'four and a half LIM domains 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2353 Label: Schilbach-Rott syndrome - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' - 'Schilbach-Rott syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Schilbach-Rott syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Schilbach-Rott syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Schilbach-Rott syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' + 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Schilbach-Rott syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Schilbach-Rott syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Schilbach-Rott syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_90771 Label: Disorder of sex development - 'Disorder of sex development' SubClassOf 'group of disorders' + 'Disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90776 Label: 46,XX disorder of sex development induced by fetal androgens excess - '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93548 Label: Glomerular disease - 'Glomerular disease' SubClassOf 'group of disorders' + 'Glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93546 Label: Non-syndromic renal or urinary tract malformation - 'Non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352662 Label: Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'disease' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93547 Label: Syndromic renal or urinary tract malformation - 'Syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281857 Label: hemoglobin, delta - 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' - 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Delta-beta-thalassemia' - 'hemoglobin, delta' SubClassOf 'gene' + 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Hemoglobin Lepore - beta-thalassemia' + 'hemoglobin, delta' SubClassOf 'Part of a fusion gene in' some 'Delta-beta-thalassemia' + 'hemoglobin, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93545 Label: Renal or urinary tract malformation - 'Renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352665 Label: 9q21 microdeletion syndrome - '9q21 microdeletion syndrome' SubClassOf 'disease' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' - '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '9q21 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '9q21 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '9q21 microdeletion syndrome' SubClassOf 'disease' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '9q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' + '9q21 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '9q21 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '9q21 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_93552 Label: Pediatric systemic lupus erythematosus - 'Pediatric systemic lupus erythematosus' SubClassOf 'disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Pediatric systemic lupus erythematosus' SubClassOf 'disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory and autoimmune disease with epilepsy' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Pediatric systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_2342 Label: Haim-Munk syndrome - 'Haim-Munk syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Haim-Munk syndrome' SubClassOf 'disease' - 'Haim-Munk syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' - 'Haim-Munk syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Haim-Munk syndrome' SubClassOf 'disease' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of lysosomal-related organelles' + 'Haim-Munk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Haim-Munk syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93551 Label: Secondary glomerular disease - 'Secondary glomerular disease' SubClassOf 'group of disorders' + 'Secondary glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2343 Label: Isolated cloverleaf skull syndrome - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated cloverleaf skull syndrome' SubClassOf 'morphological anomaly' - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cloverleaf skull syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated cloverleaf skull syndrome' SubClassOf 'part_of' some 'Isolated craniosynostosis' + 'Isolated cloverleaf skull syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated cloverleaf skull syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated cloverleaf skull syndrome' SubClassOf 'morphological anomaly' + 'Isolated cloverleaf skull syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93550 Label: Basement membrane disease - 'Basement membrane disease' SubClassOf 'group of disorders' + 'Basement membrane disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291509 Label: sigma non-opioid intracellular receptor 1 - 'sigma non-opioid intracellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' - 'sigma non-opioid intracellular receptor 1' SubClassOf 'gene' + 'sigma non-opioid intracellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sigma non-opioid intracellular receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' + 'sigma non-opioid intracellular receptor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2340 Label: Keratosis follicularis spinulosa decalvans - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'part_of' some 'Secondary ectropion' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'disease' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'part_of' some 'Keratosis pilaris atrophicans' - 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Keratosis follicularis spinulosa decalvans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratosis pilaris atrophicans' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'disease' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_37202 Label: Interstitial cystitis - 'Interstitial cystitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Interstitial cystitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Interstitial cystitis' SubClassOf 'disease' - 'Interstitial cystitis' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Interstitial cystitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Interstitial cystitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Interstitial cystitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Interstitial cystitis' SubClassOf 'disease' + 'Interstitial cystitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_157823 Label: Kl�ver-Bucy syndrome - 'Kl�ver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Kl�ver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Kl�ver-Bucy syndrome' SubClassOf 'clinical syndrome' + 'Kl�ver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Kl�ver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' + 'Kl�ver-Bucy syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2348 Label: Familial partial lipodystrophy, Dunnigan type - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'disease' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2349 Label: Muscular pseudohypertrophy - hypothyroidism - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'disease' - 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_prevalence' some 'Unknown' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'disease' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_217407 Label: Hereditary hypotrichosis with recurrent skin vesicles - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'part_of' some 'Alopecia' - 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'disease' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'disease' + 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2346 Label: Angioosteohypertrophic syndrome - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Skin vascular disease' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'disease' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Angioosteohypertrophic syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angioosteohypertrophic syndrome' SubClassOf 'disease' + 'Angioosteohypertrophic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Angioosteohypertrophic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' + 'Angioosteohypertrophic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2347 Label: Lethal Kniest-like dysplasia - 'Lethal Kniest-like dysplasia' SubClassOf 'malformation syndrome' - 'Lethal Kniest-like dysplasia' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal Kniest-like dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lethal Kniest-like dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal Kniest-like dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lethal chondrodysplasia' + 'Lethal Kniest-like dysplasia' SubClassOf 'malformation syndrome' + 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal Kniest-like dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal Kniest-like dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_157820 Label: Cold-induced sweating syndrome - 'Cold-induced sweating syndrome' SubClassOf 'disease' - 'Cold-induced sweating syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cold-induced sweating syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cold-induced sweating syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cold-induced sweating syndrome' SubClassOf 'part_of' some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Cold-induced sweating syndrome' SubClassOf 'disease' + 'Cold-induced sweating syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cold-induced sweating syndrome-hyperthermia spectrum' + 'Cold-induced sweating syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cold-induced sweating syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2345 Label: Isolated Klippel-Feil syndrome - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated Klippel-Feil syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated Klippel-Feil syndrome' SubClassOf 'disease' - 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Isolated Klippel-Feil syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Klippel-Feil syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated Klippel-Feil syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Isolated Klippel-Feil syndrome' SubClassOf 'disease' + 'Isolated Klippel-Feil syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_90783 Label: 46,XY disorder of sex development due to testosterone synthesis defect - '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157808 Label: Congenital pseudoarthrosis of the limbs - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Dysostosis with limb anomaly as a major feature' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'morphological anomaly' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Dysostosis of genetic origin with limb anomaly as a major feature' - 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some 'Non-syndromic limb malformation' + 'Congenital pseudoarthrosis of the limbs' SubClassOf 'morphological anomaly' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin with limb anomaly as a major feature' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with limb anomaly as a major feature' + 'Congenital pseudoarthrosis of the limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_90787 Label: 46,XY disorder of sex development due to testicular steroidogenesis defect - '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90786 Label: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect - '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363694 Label: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' - 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'disease' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with pulmonary hypertension as a major feature' + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_352670 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93557 Label: Light and heavy chain deposition disease - 'Light and heavy chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Light and heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Light and heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Light and heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' Class: http://www.orpha.net/ORDO/Orphanet_93558 Label: Light chain deposition disease - 'Light chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Light chain deposition disease' SubClassOf 'clinical subtype' + 'Light chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' + 'Light chain deposition disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_352675 Label: X-linked Charcot-Marie-Tooth disease type 6 - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'part_of' some 'X-linked Charcot-Marie-Tooth disease' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'disease' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked Charcot-Marie-Tooth disease' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_93554 Label: Type II mixed cryoglobulinemia - 'Type II mixed cryoglobulinemia' SubClassOf 'etiological subtype' - 'Type II mixed cryoglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Type II mixed cryoglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Type II mixed cryoglobulinemia' SubClassOf 'part_of' some 'Cryoglobulinemic vasculitis' + 'Type II mixed cryoglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Type II mixed cryoglobulinemia' SubClassOf 'etiological subtype' + 'Type II mixed cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_281864 Label: X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound - 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'gene' - 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'Major susceptibility factor in' some 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string + 'X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound' SubClassOf 'Major susceptibility factor in' some 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' Class: http://www.orpha.net/ORDO/Orphanet_93555 Label: Mixed cryoglobulinemia type III - 'Mixed cryoglobulinemia type III' SubClassOf 'part_of' some 'Cryoglobulinemic vasculitis' - 'Mixed cryoglobulinemia type III' SubClassOf 'etiological subtype' - 'Mixed cryoglobulinemia type III' SubClassOf 'has_prevalence' some 'Unknown' - 'Mixed cryoglobulinemia type III' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mixed cryoglobulinemia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mixed cryoglobulinemia type III' SubClassOf 'etiological subtype' + 'Mixed cryoglobulinemia type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryoglobulinemic vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_93556 Label: Heavy chain deposition disease - 'Heavy chain deposition disease' SubClassOf 'part_of' some 'Non-amyloid monoclonal immunoglobulin deposition disease' - 'Heavy chain deposition disease' SubClassOf 'clinical subtype' + 'Heavy chain deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-amyloid monoclonal immunoglobulin deposition disease' + 'Heavy chain deposition disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93561 Label: Familial renal amyloidosis due to lysozyme variant - 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to lysozyme variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_93560 Label: Familial renal amyloidosis due to Apolipoprotein AI variant - 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_2330 Label: Kasabach-Merritt syndrome - 'Kasabach-Merritt syndrome' SubClassOf 'part_of' some 'Vascular tumor' - 'Kasabach-Merritt syndrome' SubClassOf 'disease' - 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kasabach-Merritt syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kasabach-Merritt syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Kasabach-Merritt syndrome' SubClassOf 'disease' + 'Kasabach-Merritt syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kasabach-Merritt syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kasabach-Merritt syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kasabach-Merritt syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_178148 Label: Antenatal multiminicore disease with arthrogryposis multiplex congenita - 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'clinical subtype' + 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' + 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2331 Label: Kawasaki disease - 'Kawasaki disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Kawasaki disease' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Kawasaki disease' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' - 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kawasaki disease' SubClassOf 'part_of' some 'Non-familial rare disease with dilated cardiomyopathy' - 'Kawasaki disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Kawasaki disease' SubClassOf 'disease' + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kawasaki disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial rare disease with dilated cardiomyopathy' + 'Kawasaki disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Kawasaki disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly medium-vessel vasculitis' + 'Kawasaki disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93562 Label: Familial renal amyloidosis due to fibrinogen A alpha-chain variant - 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' - 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'etiological subtype' + 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial renal amyloidosis' + 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2332 Label: KBG syndrome - 'KBG syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'KBG syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'KBG syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'KBG syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'KBG syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'KBG syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'KBG syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'KBG syndrome' SubClassOf 'malformation syndrome' - 'KBG syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'KBG syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'KBG syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'KBG syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'KBG syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'KBG syndrome' SubClassOf 'malformation syndrome' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_268770 Label: Upper thoracic spina bifida cystica - 'Upper thoracic spina bifida cystica' SubClassOf 'clinical subtype' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Upper thoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Upper thoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Upper thoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Upper thoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Upper thoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_332077 Label: protein kinase C, delta - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive systemic lupus erythematosus' - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' - 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'protein kinase C, delta' SubClassOf 'gene' + 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive systemic lupus erythematosus' + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein kinase C, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'protein kinase C, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autoimmune lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217410 Label: Circumscribed lymphatic malformation - 'Circumscribed lymphatic malformation' SubClassOf 'clinical subtype' - 'Circumscribed lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Circumscribed lymphatic malformation' SubClassOf 'part_of' some 'Macrocystic lymphatic malformation' - 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Circumscribed lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Circumscribed lymphatic malformation' SubClassOf 'clinical subtype' + 'Circumscribed lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrocystic lymphatic malformation' + 'Circumscribed lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2337 Label: Non-epidermolytic palmoplantar keratoderma - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'part_of' some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant isolated diffuse palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_2338 Label: Isolated punctate palmoplantar keratoderma - 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Isolated punctate palmoplantar keratoderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2339 Label: Keratosis follicularis - dwarfism - cerebral atrophy - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'malformation syndrome' - 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90791 Label: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2333 Label: Kenny-Caffey syndrome - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Kenny-Caffey syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Kenny-Caffey syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Kenny-Caffey syndrome' SubClassOf 'malformation syndrome' + 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kenny-Caffey syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kenny-Caffey syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Kenny-Caffey syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90790 Label: Congenital lipoid adrenal hyperplasia due to STAR deficency - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'disease' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'disease' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_2334 Label: Autosomal dominant keratitis - 'Autosomal dominant keratitis' SubClassOf 'part_of' some 'Corneal dystrophy' - 'Autosomal dominant keratitis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant keratitis' SubClassOf 'disease' - 'Autosomal dominant keratitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant keratitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Corneal dystrophy' + 'Autosomal dominant keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant keratitis' SubClassOf 'disease' + 'Autosomal dominant keratitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_178145 Label: Moderate multiminicore disease with hand involvement - 'Moderate multiminicore disease with hand involvement' SubClassOf 'part_of' some 'Multiminicore myopathy' - 'Moderate multiminicore disease with hand involvement' SubClassOf 'clinical subtype' + 'Moderate multiminicore disease with hand involvement' SubClassOf 'clinical subtype' + 'Moderate multiminicore disease with hand involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' Class: http://www.orpha.net/ORDO/Orphanet_90796 Label: 46,XY disorder of sex development due to isolated 17,20 lyase deficiency - '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'disease' - '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to testicular steroidogenesis defect' + '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'disease' + '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to testicular steroidogenesis defect' Class: http://www.orpha.net/ORDO/Orphanet_95618 Label: Pituitary hormone deficiency secondary to storage disease - 'Pituitary hormone deficiency secondary to storage disease' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency secondary to storage disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_294023 Label: Neonatal inflammatory skin and bowel disease - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'disease' - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Neonatal inflammatory skin and bowel disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare inflammatory bowel disease' + 'Neonatal inflammatory skin and bowel disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95619 Label: Iatrogenic or traumatic pituitary deficiency - 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'disease' - 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' + 'Iatrogenic or traumatic pituitary deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired pituitary hormone deficiency' + 'Iatrogenic or traumatic pituitary deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90797 Label: Partial androgen insensitivity syndrome - 'Partial androgen insensitivity syndrome' SubClassOf 'disease' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Partial androgen insensitivity syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Partial androgen insensitivity syndrome' SubClassOf 'part_of' some 'Androgen insensitivity syndrome' + 'Partial androgen insensitivity syndrome' SubClassOf 'disease' + 'Partial androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Androgen insensitivity syndrome' + 'Partial androgen insensitivity syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Partial androgen insensitivity syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2319 Label: Juberg-Hayward syndrome - 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Juberg-Hayward syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Juberg-Hayward syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juberg-Hayward syndrome' SubClassOf 'malformation syndrome' + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Juberg-Hayward syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Juberg-Hayward syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Juberg-Hayward syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Juberg-Hayward syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90793 Label: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-acquired premature ovarian failure' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_294026 Label: 2q31.1 microduplication syndrome - '2q31.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '2q31.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '2q31.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q31.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 2' + '2q31.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 2' + '2q31.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '2q31.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '2q31.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q31.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_90794 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder of genetic origin' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to an adrenal disorder' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility due to adrenal disorder' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare female infertility due to adrenal disorder of genetic origin' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an adrenal disorder' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to adrenal disorder' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to adrenal disorder of genetic origin' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90795 Label: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.47"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_365642 Label: spinocerebellar ataxia 37 - 'spinocerebellar ataxia 37' SubClassOf 'gene' - 'spinocerebellar ataxia 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 37' + 'spinocerebellar ataxia 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spinocerebellar ataxia 37' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'spinocerebellar ataxia 37' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 37' Class: http://www.orpha.net/ORDO/Orphanet_352646 Label: protein-O-mannose kinase - 'protein-O-mannose kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' - 'protein-O-mannose kinase' SubClassOf 'gene' + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' + 'protein-O-mannose kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_95611 Label: Pituitary hormone defiency from vascular origin - 'Pituitary hormone defiency from vascular origin' SubClassOf 'group of disorders' + 'Pituitary hormone defiency from vascular origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95613 Label: Pituitary apoplexy - 'Pituitary apoplexy' SubClassOf 'disease' - 'Pituitary apoplexy' SubClassOf 'has_prevalence' some 'No data available' - 'Pituitary apoplexy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pituitary apoplexy' SubClassOf 'part_of' some 'Acquired pituitary hormone deficiency' - 'Pituitary apoplexy' SubClassOf 'has_inheritance' some 'sporadic' + 'Pituitary apoplexy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pituitary apoplexy' SubClassOf 'disease' + 'Pituitary apoplexy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired pituitary hormone deficiency' + 'Pituitary apoplexy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_303176 Label: piezo-type mechanosensitive ion channel component 1 - 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydrated hereditary stomatocytosis' - 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'gene' + 'piezo-type mechanosensitive ion channel component 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dehydrated hereditary stomatocytosis' + 'piezo-type mechanosensitive ion channel component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'piezo-type mechanosensitive ion channel component 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_356106 Label: Rho GDP dissociation inhibitor (GDI) alpha - 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf 'gene' - 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'Rho GDP dissociation inhibitor (GDI) alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352641 Label: Autosomal recessive cerebellar ataxia with late-onset spasticity - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_95617 Label: Pituitary hormone deficiency secondary to a granulomatous disease - 'Pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_75567 Label: Primary progressive freezing gait - 'Primary progressive freezing gait' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary progressive freezing gait' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary progressive freezing gait' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Primary progressive freezing gait' SubClassOf 'disease' + 'Primary progressive freezing gait' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary progressive freezing gait' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Primary progressive freezing gait' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Primary progressive freezing gait' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75566 Label: Loeffler endocarditis - 'Loeffler endocarditis' SubClassOf 'disease' - 'Loeffler endocarditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Loeffler endocarditis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' + 'Loeffler endocarditis' SubClassOf 'disease' + 'Loeffler endocarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Loeffler endocarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_332043 Label: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 - 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf 'gene' - 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Walker-Warburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75565 Label: Tropical endomyocardial fibrosis - 'Tropical endomyocardial fibrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Tropical endomyocardial fibrosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Tropical endomyocardial fibrosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Tropical endomyocardial fibrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Tropical endomyocardial fibrosis' SubClassOf 'disease' + 'Tropical endomyocardial fibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Tropical endomyocardial fibrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tropical endomyocardial fibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Tropical endomyocardial fibrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320391 Label: Autosomal recessive spastic paraplegia type 46 - 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 46' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_252050 Label: Primary melanoma of the central nervous system - 'Primary melanoma of the central nervous system' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Primary melanoma of the central nervous system' SubClassOf 'disease' + 'Primary melanoma of the central nervous system' SubClassOf 'disease' + 'Primary melanoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_75564 Label: Acquired idiopathic sideroblastic anemia - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'part_of' some 'Sideroblastic anemia' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'disease' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired idiopathic sideroblastic anemia' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'disease' + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sideroblastic anemia' + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired idiopathic sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired idiopathic sideroblastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Acquired idiopathic sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_225293 Label: WD repeat domain 72 - 'WD repeat domain 72' SubClassOf 'gene' - 'WD repeat domain 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'WD repeat domain 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' + 'WD repeat domain 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_75563 Label: X-linked sideroblastic anemia - 'X-linked sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' - 'X-linked sideroblastic anemia' SubClassOf 'part_of' some 'Disorder of porphyrin and haem metabolism' - 'X-linked sideroblastic anemia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked sideroblastic anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked sideroblastic anemia' SubClassOf 'disease' + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of porphyrin and haem metabolism' + 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'X-linked sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked sideroblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320396 Label: Autosomal recessive spastic paraplegia type 45 - 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 45' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_352636 Label: Phalangeal microgeodic syndrome - 'Phalangeal microgeodic syndrome' SubClassOf 'disease' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Phalangeal microgeodic syndrome' SubClassOf 'part_of' some 'Primary osteolysis' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phalangeal microgeodic syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Phalangeal microgeodic syndrome' SubClassOf 'disease' + 'Phalangeal microgeodic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phalangeal microgeodic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Phalangeal microgeodic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Phalangeal microgeodic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' Class: http://www.orpha.net/ORDO/Orphanet_252054 Label: Hemangioblastoma - 'Hemangioblastoma' SubClassOf 'disease' - 'Hemangioblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hemangioblastoma' SubClassOf 'part_of' some 'Rare nervous system tumor' + 'Hemangioblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hemangioblastoma' SubClassOf 'disease' + 'Hemangioblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nervous system tumor' Class: http://www.orpha.net/ORDO/Orphanet_268762 Label: Cervical spina bifida cystica - 'Cervical spina bifida cystica' SubClassOf 'clinical subtype' - 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervical spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervical spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' + 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cervical spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervical spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervical spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Cervical spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_2324 Label: Kaler-Garrity-Stern syndrome - 'Kaler-Garrity-Stern syndrome' SubClassOf 'malformation syndrome' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kaler-Garrity-Stern syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'malformation syndrome' + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Kaler-Garrity-Stern syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kaler-Garrity-Stern syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2325 Label: Epidermolysis bullosa simplex with anodontia/hypodontia - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'malformation syndrome' - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'part_of' some 'Epidermolysis bullosa simplex' - 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'malformation syndrome' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epidermolysis bullosa simplex' + 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_2322 Label: Kabuki syndrome - 'Kabuki syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Kabuki syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Congenital ectropion' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Kabuki syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kabuki syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kabuki syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Kabuki syndrome' SubClassOf 'malformation syndrome' + 'Kabuki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Kabuki syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kabuki syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kabuki syndrome' SubClassOf 'malformation syndrome' + 'Kabuki syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_268766 Label: Cervicothoracic spina bifida cystica - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Cervicothoracic spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Cervicothoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cervicothoracic spina bifida cystica' SubClassOf 'clinical subtype' + 'Cervicothoracic spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2323 Label: Sanjad-Sakati syndrome - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Sanjad-Sakati syndrome' SubClassOf 'malformation syndrome' - 'Sanjad-Sakati syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sanjad-Sakati syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sanjad-Sakati syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with hypoparathyroidism' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Sanjad-Sakati syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Sanjad-Sakati syndrome' SubClassOf 'malformation syndrome' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Sanjad-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_252057 Label: Tumor of cranial and spinal nerves - 'Tumor of cranial and spinal nerves' SubClassOf 'group of disorders' + 'Tumor of cranial and spinal nerves' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157801 Label: Mesoaxial synostotic syndactyly with phalangeal reduction - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'morphological anomaly' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'part_of' some 'Syndactyly' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'morphological anomaly' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2328 Label: Kapur-Toriello syndrome - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Kapur-Toriello syndrome' SubClassOf 'malformation syndrome' - 'Kapur-Toriello syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Kapur-Toriello syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Kapur-Toriello syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Kapur-Toriello syndrome' SubClassOf 'malformation syndrome' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Kapur-Toriello syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Kapur-Toriello syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2329 Label: Karsch-Neugebauer syndrome - 'Karsch-Neugebauer syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Karsch-Neugebauer syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Karsch-Neugebauer syndrome' SubClassOf 'malformation syndrome' - 'Karsch-Neugebauer syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Karsch-Neugebauer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Karsch-Neugebauer syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Karsch-Neugebauer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Karsch-Neugebauer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Karsch-Neugebauer syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2326 Label: Kallmann syndrome - heart disease - 'Kallmann syndrome - heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Kallmann syndrome - heart disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Kallmann syndrome - heart disease' SubClassOf 'malformation syndrome' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Kallmann syndrome - heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Kallmann syndrome - heart disease' SubClassOf 'malformation syndrome' + 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Kallmann syndrome - heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2309 Label: Pachyonychia congenita - 'Pachyonychia congenita' SubClassOf 'disease' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Pachyonychia congenita' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pachyonychia congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pachyonychia congenita' SubClassOf 'has_prevalence' some 'Unknown' - 'Pachyonychia congenita' SubClassOf 'part_of' some 'Syndromic nail anomaly' + 'Pachyonychia congenita' SubClassOf 'disease' + 'Pachyonychia congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pachyonychia congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Pachyonychia congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2308 Label: Jacobsen syndrome - 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Jacobsen syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 11' - 'Jacobsen syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Jacobsen syndrome' SubClassOf 'malformation syndrome' - 'Jacobsen syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Jacobsen syndrome' SubClassOf 'part_of' some 'Ptosis' + 'Jacobsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Jacobsen syndrome' SubClassOf 'malformation syndrome' + 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Jacobsen syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 11' + 'Jacobsen syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Jacobsen syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_294016 Label: Microcephaly-capillary malformation syndrome - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Capillary malformation' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'malformation syndrome' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly-capillary malformation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly-capillary malformation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Capillary malformation' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352654 Label: Early-onset progressive neurodegeneration - blindness - ataxia - spasticity - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'disease' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_352657 Label: Hereditary benign intraepithelial dyskeratosis - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'disease' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'part_of' some 'Superficial corneal dystrophy' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'disease' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Superficial corneal dystrophy' + 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_225288 Label: C-type lectin domain family 7, member A - 'C-type lectin domain family 7, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'C-type lectin domain family 7, member A' SubClassOf 'gene' + 'C-type lectin domain family 7, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'C-type lectin domain family 7, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'C-type lectin domain family 7, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.2-p12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_225286 Label: caspase recruitment domain family, member 9 - 'caspase recruitment domain family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' - 'caspase recruitment domain family, member 9' SubClassOf 'gene' - 'caspase recruitment domain family, member 9' SubClassOf 'Major susceptibility factor in' some 'Deep dermatophytosis' + 'caspase recruitment domain family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase recruitment domain family, member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic mucocutaneous candidosis' + 'caspase recruitment domain family, member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34"^^http://www.w3.org/2001/XMLSchema#string + 'caspase recruitment domain family, member 9' SubClassOf 'Major susceptibility factor in' some 'Deep dermatophytosis' Class: http://www.orpha.net/ORDO/Orphanet_320380 Label: Autosomal recessive spastic paraplegia type 54 - 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 54' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_332055 Label: piezo-type mechanosensitive ion channel component 2 - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gordon syndrome' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marden-Walker syndrome' - 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'gene' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gordon syndrome' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marden-Walker syndrome' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'piezo-type mechanosensitive ion channel component 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' Class: http://www.orpha.net/ORDO/Orphanet_225280 Label: transient receptor potential cation channel, subfamily M, member 1 - 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'gene' - 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'transient receptor potential cation channel, subfamily M, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268752 Label: Thoracolumbosacral spina bifida cystica - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'clinical subtype' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'clinical subtype' + 'Thoracolumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thoracolumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_352649 Label: Brain dopamine-serotonin vesicular transport disease - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Disorder of neurotransmitter metabolism and transport' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of neurotransmitter metabolism and transport' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320385 Label: Autosomal recessive spastic paraplegia type 49 - 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 49' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_178127 Label: fatty acid 2-hydroxylase - 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 35' - 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatty acid hydroxylase-associated neurodegeneration' - 'fatty acid 2-hydroxylase' SubClassOf 'gene' + 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 35' + 'fatty acid 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23"^^http://www.w3.org/2001/XMLSchema#string + 'fatty acid 2-hydroxylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fatty acid 2-hydroxylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatty acid hydroxylase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_2310 Label: Absence deformity of leg - cataract - 'Absence deformity of leg - cataract' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Absence deformity of leg - cataract' SubClassOf 'malformation syndrome' - 'Absence deformity of leg - cataract' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Absence deformity of leg - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Absence deformity of leg - cataract' SubClassOf 'malformation syndrome' + 'Absence deformity of leg - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_178120 Label: adaptor-related protein complex 1, sigma 1 subunit - 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'gene' - 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEDNIK syndrome' + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEDNIK syndrome' + 'adaptor-related protein complex 1, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2311 Label: Autosomal recessive spondylocostal dysostosis - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Disorder of fucoglycosan synthesis' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of fucoglycosan synthesis' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_2312 Label: Transient familial neonatal hyperbilirubinemia - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'part_of' some 'Rare hepatic disease' - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'disease' - 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'part_of' some 'Rare genetic hepatic disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'disease' + 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_29207 Label: Reactive arthritis - 'Reactive arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Reactive arthritis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Reactive arthritis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Reactive arthritis' SubClassOf 'has_inheritance' some 'sporadic' - 'Reactive arthritis' SubClassOf 'disease' + 'Reactive arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' + 'Reactive arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Reactive arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Reactive arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Reactive arthritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2314 Label: Autosomal dominant hyper-IgE syndrome - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'disease' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'disease' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyper-IgE syndrome' + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant hyper-IgE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2315 Label: Johanson-Blizzard syndrome - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Johanson-Blizzard syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' - 'Johanson-Blizzard syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Johanson-Blizzard syndrome' SubClassOf 'malformation syndrome' - 'Johanson-Blizzard syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hypothyroidism' + 'Johanson-Blizzard syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Johanson-Blizzard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Johanson-Blizzard syndrome' SubClassOf 'malformation syndrome' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2316 Label: Neuroectodermal syndrome, Johnson type - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'malformation syndrome' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'malformation syndrome' + 'Neuroectodermal syndrome, Johnson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Neuroectodermal syndrome, Johnson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neuroectodermal syndrome, Johnson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2318 Label: Joubert syndrome with oculorenal defect - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Joubert syndrome with oculorenal defect' SubClassOf 'disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' + 'Joubert syndrome with oculorenal defect' SubClassOf 'disease' + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joubert syndrome and related disorders' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Joubert syndrome with oculorenal defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Joubert syndrome with oculorenal defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_268758 Label: Lumbosacral spina bifida cystica - 'Lumbosacral spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Lumbosacral spina bifida cystica' SubClassOf 'clinical subtype' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Lumbosacral spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lumbosacral spina bifida cystica' SubClassOf 'clinical subtype' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lumbosacral spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lumbosacral spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_3439 Label: Von Voss-Cherstvoy syndrome - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'malformation syndrome' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Von Voss-Cherstvoy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Von Voss-Cherstvoy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Von Voss-Cherstvoy syndrome' SubClassOf 'malformation syndrome' + 'Von Voss-Cherstvoy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141013 Label: First branchial cleft anomaly - 'First branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'First branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'First branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'First branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_2305 Label: Isotretinoin syndrome - 'Isotretinoin syndrome' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Isotretinoin syndrome' SubClassOf 'part_of' some 'Teratogenic Pierre Robin syndrome' - 'Isotretinoin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isotretinoin syndrome' SubClassOf 'malformation syndrome' - 'Isotretinoin syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Isotretinoin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isotretinoin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isotretinoin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratogenic Pierre Robin syndrome' + 'Isotretinoin syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268748 Label: Total spina bifida cystica - 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Total spina bifida cystica' SubClassOf 'part_of' some 'Myelomeningocele' - 'Total spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Total spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Total spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Total spina bifida cystica' SubClassOf 'clinical subtype' + 'Total spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Total spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Total spina bifida cystica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelomeningocele' + 'Total spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Total spina bifida cystica' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3437 Label: Vogt-Koyanagi-Harada disease - 'Vogt-Koyanagi-Harada disease' SubClassOf 'disease' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Panuveitis' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' + 'Vogt-Koyanagi-Harada disease' SubClassOf 'disease' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Panuveitis' + 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Vogt-Koyanagi-Harada disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_2307 Label: IVIC syndrome - 'IVIC syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'IVIC syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'IVIC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'IVIC syndrome' SubClassOf 'malformation syndrome' - 'IVIC syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'IVIC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'IVIC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'IVIC syndrome' SubClassOf 'malformation syndrome' + 'IVIC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'IVIC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2306 Label: Isotretinoin-like syndrome - 'Isotretinoin-like syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isotretinoin-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Isotretinoin-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Isotretinoin-like syndrome' SubClassOf 'malformation syndrome' - 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Isotretinoin-like syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Isotretinoin-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isotretinoin-like syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isotretinoin-like syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_50920 Label: Multiple fibroadenoma of the breast - 'Multiple fibroadenoma of the breast' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Multiple fibroadenoma of the breast' SubClassOf 'disease' - 'Multiple fibroadenoma of the breast' SubClassOf 'has_prevalence' some 'Unknown' - 'Multiple fibroadenoma of the breast' SubClassOf 'part_of' some 'Rare benign breast tumor' + 'Multiple fibroadenoma of the breast' SubClassOf 'disease' + 'Multiple fibroadenoma of the breast' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Multiple fibroadenoma of the breast' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Multiple fibroadenoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_2301 Label: Congenital short bowel syndrome - 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital short bowel syndrome' SubClassOf 'morphological anomaly' - 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital short bowel syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Congenital short bowel syndrome' SubClassOf 'part_of' some 'Primary short bowel syndrome' + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary short bowel syndrome' + 'Congenital short bowel syndrome' SubClassOf 'morphological anomaly' + 'Congenital short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital short bowel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2300 Label: Multiple intestinal atresia - 'Multiple intestinal atresia' SubClassOf 'morphological anomaly' - 'Multiple intestinal atresia' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Multiple intestinal atresia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Multiple intestinal atresia' SubClassOf 'morphological anomaly' + 'Multiple intestinal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_268744 Label: Spina bifida cystica - 'Spina bifida cystica' SubClassOf 'group of disorders' - 'Spina bifida cystica' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Spina bifida cystica' SubClassOf 'has_inheritance' some 'sporadic' - 'Spina bifida cystica' SubClassOf 'has_prevalence' some 'Unknown' - 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Spina bifida cystica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Spina bifida cystica' SubClassOf 'group of disorders' + 'Spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Spina bifida cystica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spina bifida cystica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3433 Label: Microcephaly - brachydactyly - kyphoscoliosis - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'malformation syndrome' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'malformation syndrome' + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3434 Label: MMEP syndrome - 'MMEP syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'MMEP syndrome' SubClassOf 'malformation syndrome' - 'MMEP syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'MMEP syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MMEP syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'MMEP syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf 'malformation syndrome' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MMEP syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_280325 Label: Distal monosomy 12p - 'Distal monosomy 12p' SubClassOf 'malformation syndrome' - 'Distal monosomy 12p' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal monosomy 12p' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 12' + 'Distal monosomy 12p' SubClassOf 'malformation syndrome' + 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal monosomy 12p' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal monosomy 12p' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 12' + 'Distal monosomy 12p' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2302 Label: Asbestos intoxication - 'Asbestos intoxication' SubClassOf 'part_of' some 'Pneumoconiosis' - 'Asbestos intoxication' SubClassOf 'disease' + 'Asbestos intoxication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pneumoconiosis' + 'Asbestos intoxication' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_252031 Label: Diffuse leptomeningeal melanocytosis - 'Diffuse leptomeningeal melanocytosis' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Diffuse leptomeningeal melanocytosis' SubClassOf 'disease' + 'Diffuse leptomeningeal melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' + 'Diffuse leptomeningeal melanocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268740 Label: Upper thoracic spina bifida aperta - 'Upper thoracic spina bifida aperta' SubClassOf 'has_prevalence' some 'Unknown' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some 'sporadic' - 'Upper thoracic spina bifida aperta' SubClassOf 'clinical subtype' - 'Upper thoracic spina bifida aperta' SubClassOf 'part_of' some 'Spina bifida aperta' + 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Upper thoracic spina bifida aperta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Upper thoracic spina bifida aperta' SubClassOf 'clinical subtype' + 'Upper thoracic spina bifida aperta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_206489 Label: Vaginal germ cell malignant tumor - 'Vaginal germ cell malignant tumor' SubClassOf 'disease' - 'Vaginal germ cell malignant tumor' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' + 'Vaginal germ cell malignant tumor' SubClassOf 'disease' + 'Vaginal germ cell malignant tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_265258 Label: RNA, U4atac small nuclear (U12-dependent splicing) - 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'gene' - 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism types I and III' + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic osteodysplastic primordial dwarfism types I and III' + 'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_324611 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_160082 Label: complement component 4B (Chido blood group) - 'complement component 4B (Chido blood group)' SubClassOf 'gene' - 'complement component 4B (Chido blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 4B (Chido blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 4B (Chido blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 4B (Chido blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' Class: http://www.orpha.net/ORDO/Orphanet_206484 Label: Ovarian gonadoblastoma - 'Ovarian gonadoblastoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ovarian gonadoblastoma' SubClassOf 'disease' - 'Ovarian gonadoblastoma' SubClassOf 'part_of' some 'Malignant non-epithelial tumor of ovary' + 'Ovarian gonadoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant non-epithelial tumor of ovary' + 'Ovarian gonadoblastoma' SubClassOf 'disease' + 'Ovarian gonadoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_141007 Label: Orofaciodigital syndrome type 9 - 'Orofaciodigital syndrome type 9' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Orofaciodigital syndrome type 9' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 9' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Orofaciodigital syndrome type 9' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 9' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Orofaciodigital syndrome type 9' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Orofaciodigital syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 9' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_220402 Label: Limited cutaneous systemic sclerosis - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Limited cutaneous systemic sclerosis' SubClassOf 'clinical subtype' - 'Limited cutaneous systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' - 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limited cutaneous systemic sclerosis' SubClassOf 'clinical subtype' + 'Limited cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_3426 Label: Double outlet right ventricle - 'Double outlet right ventricle' SubClassOf 'part_of' some 'Vascular malposition' - 'Double outlet right ventricle' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Double outlet right ventricle' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double outlet right ventricle' SubClassOf 'morphological anomaly' + 'Double outlet right ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular malposition' + 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Double outlet right ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double outlet right ventricle' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141022 Label: Second branchial cleft anomaly - 'Second branchial cleft anomaly' SubClassOf 'morphological anomaly' - 'Second branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Second branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Second branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_3427 Label: Double outlet left ventricle - 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double outlet left ventricle' SubClassOf 'morphological anomaly' - 'Double outlet left ventricle' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Double outlet left ventricle' SubClassOf 'part_of' some 'Vascular malposition' - 'Double outlet left ventricle' SubClassOf 'has_inheritance' some 'sporadic' + 'Double outlet left ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Double outlet left ventricle' SubClassOf 'morphological anomaly' + 'Double outlet left ventricle' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Double outlet left ventricle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular malposition' + 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double outlet left ventricle' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Double outlet left ventricle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_3429 Label: Verloove Vanhorick-Brubakk syndrome - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'malformation syndrome' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'malformation syndrome' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3424 Label: Velo-facial-skeletal syndrome - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Velo-facial-skeletal syndrome' SubClassOf 'malformation syndrome' - 'Velo-facial-skeletal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Velo-facial-skeletal syndrome' SubClassOf 'malformation syndrome' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_280333 Label: Autosomal recessive limb-girdle muscular dystrophy type 2P - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Primary qualitative or quantitative defects of alpha-dystroglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary qualitative or quantitative defects of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_252046 Label: Meningeal melanocytoma - 'Meningeal melanocytoma' SubClassOf 'part_of' some 'Primary melanocytic tumor of the central nervous system' - 'Meningeal melanocytoma' SubClassOf 'disease' + 'Meningeal melanocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary melanocytic tumor of the central nervous system' + 'Meningeal melanocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_50918 Label: Kikuchi-Fujimoto disease - 'Kikuchi-Fujimoto disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Kikuchi-Fujimoto disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Kikuchi-Fujimoto disease' SubClassOf 'part_of' some 'Rare systemic disease' - 'Kikuchi-Fujimoto disease' SubClassOf 'disease' + 'Kikuchi-Fujimoto disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kikuchi-Fujimoto disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Kikuchi-Fujimoto disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3421 Label: Cerebroretinal vasculopathy - 'Cerebroretinal vasculopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebroretinal vasculopathy' SubClassOf 'disease' - 'Cerebroretinal vasculopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebroretinal vasculopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cerebroretinal vasculopathy' SubClassOf 'part_of' some 'Retinal vasculopathy and cerebral leukodystrophy' + 'Cerebroretinal vasculopathy' SubClassOf 'disease' + 'Cerebroretinal vasculopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebroretinal vasculopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebroretinal vasculopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal vasculopathy and cerebral leukodystrophy' + 'Cerebroretinal vasculopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_173526 Label: RAN binding protein 2 - 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Familial acute necrotizing encephalopathy' - 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' - 'RAN binding protein 2' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'RAN binding protein 2' SubClassOf 'gene' + 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Familial acute necrotizing encephalopathy' + 'RAN binding protein 2' SubClassOf 'Major susceptibility factor in' some 'Acute necrotizing encephalopathy of childhood' + 'RAN binding protein 2' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'RAN binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAN binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_173523 Label: adenylate kinase 2 - 'adenylate kinase 2' SubClassOf 'gene' - 'adenylate kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reticular dysgenesis' + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Reticular dysgenesis' + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_173530 Label: discoidin domain receptor tyrosine kinase 2 - 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' - 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'gene' + 'discoidin domain receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' + 'discoidin domain receptor tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'discoidin domain receptor tyrosine kinase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q12-q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_324601 Label: X-linked cleft palate and ankyloglossia - 'X-linked cleft palate and ankyloglossia' SubClassOf 'malformation syndrome' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked cleft palate and ankyloglossia' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'malformation syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked cleft palate and ankyloglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'X-linked cleft palate and ankyloglossia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_304694 Label: caspase recruitment domain family, member 14 - 'caspase recruitment domain family, member 14' SubClassOf 'gene' - 'caspase recruitment domain family, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pityriasis rubra pilaris' + 'caspase recruitment domain family, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caspase recruitment domain family, member 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'caspase recruitment domain family, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pityriasis rubra pilaris' Class: http://www.orpha.net/ORDO/Orphanet_206473 Label: Borderline epithelial tumor of ovary - 'Borderline epithelial tumor of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Borderline epithelial tumor of ovary' SubClassOf 'disease' + 'Borderline epithelial tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' + 'Borderline epithelial tumor of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324604 Label: Classic multiminicore myopathy - 'Classic multiminicore myopathy' SubClassOf 'clinical subtype' - 'Classic multiminicore myopathy' SubClassOf 'part_of' some 'Multiminicore myopathy' + 'Classic multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiminicore myopathy' + 'Classic multiminicore myopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_160093 Label: complement component 5 - 'complement component 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 5' SubClassOf 'gene' + 'complement component 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_206470 Label: Serous or mucinous cystadenoma of childhood - 'Serous or mucinous cystadenoma of childhood' SubClassOf 'disease' - 'Serous or mucinous cystadenoma of childhood' SubClassOf 'part_of' some 'Rare benign ovarian tumor' + 'Serous or mucinous cystadenoma of childhood' SubClassOf 'disease' + 'Serous or mucinous cystadenoma of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign ovarian tumor' Class: http://www.orpha.net/ORDO/Orphanet_3411 Label: Double uterus - hemivagina - renal agenesis - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'malformation syndrome' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Double uterus - hemivagina - renal agenesis' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'malformation syndrome' + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Double uterus - hemivagina - renal agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Double uterus - hemivagina - renal agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_280302 Label: Autoimmune pancreatitis type 1 - 'Autoimmune pancreatitis type 1' SubClassOf 'clinical subtype' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune pancreatitis type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoimmune pancreatitis type 1' SubClassOf 'part_of' some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoimmune pancreatitis type 1' SubClassOf 'clinical subtype' + 'Autoimmune pancreatitis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autoimmune pancreatitis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_141037 Label: Fourth branchial cleft anomaly - 'Fourth branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Fourth branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Fourth branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Fourth branchial cleft anomaly' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3412 Label: VACTERL with hydrocephalus - 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'VACTERL with hydrocephalus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some 'x linked recessive' - 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'VACTERL with hydrocephalus' SubClassOf 'malformation syndrome' - 'VACTERL with hydrocephalus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'VACTERL with hydrocephalus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'VACTERL with hydrocephalus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'VACTERL with hydrocephalus' SubClassOf 'malformation syndrome' + 'VACTERL with hydrocephalus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295107 Label: Apodia, bilateral - 'Apodia, bilateral' SubClassOf 'clinical subtype' - 'Apodia, bilateral' SubClassOf 'part_of' some 'Apodia' + 'Apodia, bilateral' SubClassOf 'clinical subtype' + 'Apodia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Apodia' Class: http://www.orpha.net/ORDO/Orphanet_3417 Label: Van den Bosch syndrome - 'Van den Bosch syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Van den Bosch syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Van den Bosch syndrome' SubClassOf 'malformation syndrome' - 'Van den Bosch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Van den Bosch syndrome' SubClassOf 'malformation syndrome' + 'Van den Bosch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic acrokeratoderma' Class: http://www.orpha.net/ORDO/Orphanet_252018 Label: Teratoma of the central nervous system - 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' - 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Teratoma' - 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' + 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Teratoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' Class: http://www.orpha.net/ORDO/Orphanet_252015 Label: Choriocarcinoma of the central nervous system - 'Choriocarcinoma of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Choriocarcinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Choriocarcinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Choriocarcinoma of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_3416 Label: Hyperostosis corticalis generalisata - 'Hyperostosis corticalis generalisata' SubClassOf 'malformation syndrome' - 'Hyperostosis corticalis generalisata' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hyperostosis corticalis generalisata' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Hyperostosis corticalis generalisata' SubClassOf 'malformation syndrome' + 'Hyperostosis corticalis generalisata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hyperostosis corticalis generalisata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_141030 Label: Third branchial cleft anomaly - 'Third branchial cleft anomaly' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Third branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Third branchial cleft anomaly' SubClassOf 'morphological anomaly' + 'Third branchial cleft anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_399813 Label: Male infertility due to sperm motility disorder - 'Male infertility due to sperm motility disorder' SubClassOf 'group of disorders' + 'Male infertility due to sperm motility disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1198 Label: Colonic atresia - 'Colonic atresia' SubClassOf 'morphological anomaly' - 'Colonic atresia' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' + 'Colonic atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic intestinal malformation' + 'Colonic atresia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_173515 Label: APC membrane recruitment protein 1 - 'APC membrane recruitment protein 1' SubClassOf 'gene' - 'APC membrane recruitment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopathia striata - cranial sclerosis' + 'APC membrane recruitment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq11.1"^^http://www.w3.org/2001/XMLSchema#string + 'APC membrane recruitment protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteopathia striata - cranial sclerosis' + 'APC membrane recruitment protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180079 Label: Pseudounicornuate uterus - 'Pseudounicornuate uterus' SubClassOf 'morphological anomaly' - 'Pseudounicornuate uterus' SubClassOf 'part_of' some 'Unilateral aplasia of the M�llerian ducts' + 'Pseudounicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral aplasia of the M�llerian ducts' + 'Pseudounicornuate uterus' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_233060 Label: vimentin - 'vimentin' SubClassOf 'gene' - 'vimentin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'vimentin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p13"^^http://www.w3.org/2001/XMLSchema#string + 'vimentin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vimentin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' Class: http://www.orpha.net/ORDO/Orphanet_1199 Label: Esophageal atresia - 'Esophageal atresia' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Esophageal atresia' SubClassOf 'has_inheritance' some 'sporadic' - 'Esophageal atresia' SubClassOf 'morphological anomaly' - 'Esophageal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Esophageal atresia' SubClassOf 'part_of' some 'Non-syndromic esophageal malformation' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "24.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "23.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'morphological anomaly' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "22.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "21.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "19.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic esophageal malformation' + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "34.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1192 Label: Atherosclerosis - deafness - diabetes - epilepsy - nephropathy - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'malformation syndrome' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'malformation syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1193 Label: Atkin-Flaitz syndrome - 'Atkin-Flaitz syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Atkin-Flaitz syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Atkin-Flaitz syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atkin-Flaitz syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atkin-Flaitz syndrome' SubClassOf 'malformation syndrome' - 'Atkin-Flaitz syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atkin-Flaitz syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atkin-Flaitz syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atkin-Flaitz syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Atkin-Flaitz syndrome' SubClassOf 'malformation syndrome' + 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1194 Label: Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1195 Label: Congenital atransferrinemia - 'Congenital atransferrinemia' SubClassOf 'disease' - 'Congenital atransferrinemia' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' - 'Congenital atransferrinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital atransferrinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital atransferrinemia' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' + 'Congenital atransferrinemia' SubClassOf 'disease' + 'Congenital atransferrinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital atransferrinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Congenital atransferrinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_399808 Label: Male infertility with teratozoospermia due to single gene mutation - 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'disease' - 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'disease' + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with spermatogenesis disorder due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_233066 Label: microseminoprotein, beta- - 'microseminoprotein, beta-' SubClassOf 'gene' - 'microseminoprotein, beta-' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'microseminoprotein, beta-' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'microseminoprotein, beta-' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'microseminoprotein, beta-' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1190 Label: Atelosteogenesis type I - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type I' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Filamin-related bone disorder' - 'Atelosteogenesis type I' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some 'sporadic' + 'Atelosteogenesis type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type I' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Atelosteogenesis type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' + 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_399805 Label: Male infertility with azoospermia or oligozoospermia due to single gene mutation - 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' - 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'disease' + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility with spermatogenesis disorder due to single gene mutation' + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233062 Label: agrin - 'agrin' SubClassOf 'gene' - 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180086 Label: Didelphys uterus - 'Didelphys uterus' SubClassOf 'morphological anomaly' - 'Didelphys uterus' SubClassOf 'part_of' some 'Bicornuate uterus' + 'Didelphys uterus' SubClassOf 'morphological anomaly' + 'Didelphys uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bicornuate uterus' Class: http://www.orpha.net/ORDO/Orphanet_295112 Label: Congenital absence/hypoplasia of thumb, bilateral - 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb' + 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of thumb' Class: http://www.orpha.net/ORDO/Orphanet_3409 Label: Urban-Rogers-Meyer syndrome - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Urban-Rogers-Meyer syndrome' SubClassOf 'malformation syndrome' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Urban-Rogers-Meyer syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295110 Label: Congenital absence/hypoplasia of thumb, unilateral - 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb' - 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of thumb' + 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3408 Label: Upington disease - 'Upington disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Upington disease' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Upington disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Upington disease' SubClassOf 'malformation syndrome' - 'Upington disease' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Upington disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Upington disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Upington disease' SubClassOf 'malformation syndrome' + 'Upington disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_295116 Label: Adactyly of foot, unilateral - 'Adactyly of foot, unilateral' SubClassOf 'clinical subtype' - 'Adactyly of foot, unilateral' SubClassOf 'part_of' some 'Acheiropodia' + 'Adactyly of foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiropodia' + 'Adactyly of foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295114 Label: Congenital absence/hypoplasia of fingers excluding thumb, bilateral - 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of fingers excluding thumb' + 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence/hypoplasia of fingers excluding thumb' Class: http://www.orpha.net/ORDO/Orphanet_3400 Label: Aorto-ventricular tunnel - 'Aorto-ventricular tunnel' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aorto-ventricular tunnel' SubClassOf 'part_of' some 'Ascending aorta anomaly' - 'Aorto-ventricular tunnel' SubClassOf 'morphological anomaly' - 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aorto-ventricular tunnel' SubClassOf 'has_inheritance' some 'sporadic' + 'Aorto-ventricular tunnel' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aorto-ventricular tunnel' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aorto-ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' + 'Aorto-ventricular tunnel' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aorto-ventricular tunnel' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3402 Label: Transient tyrosinemia of the newborn - 'Transient tyrosinemia of the newborn' SubClassOf 'disease' - 'Transient tyrosinemia of the newborn' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' + 'Transient tyrosinemia of the newborn' SubClassOf 'disease' + 'Transient tyrosinemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_3403 Label: Uhl anomaly - 'Uhl anomaly' SubClassOf 'morphological anomaly' - 'Uhl anomaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Uhl anomaly' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' - 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Uhl anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Uhl anomaly' SubClassOf 'morphological anomaly' + 'Uhl anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Uhl anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Uhl anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Uhl anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified cardiomyopathy' + 'Uhl anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_173509 Label: solute carrier family 6 (neutral amino acid transporter), member 18 - 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'gene' - 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 6 (neutral amino acid transporter), member 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' Class: http://www.orpha.net/ORDO/Orphanet_252025 Label: Tumor of the meninges - 'Tumor of the meninges' SubClassOf 'group of disorders' + 'Tumor of the meninges' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3404 Label: Ulbright-Hodes syndrome - 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Ulbright-Hodes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ulbright-Hodes syndrome' SubClassOf 'malformation syndrome' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Ulbright-Hodes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ulbright-Hodes syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ulbright-Hodes syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Ulbright-Hodes syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulbright-Hodes syndrome' SubClassOf 'malformation syndrome' + 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Ulbright-Hodes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_3405 Label: Umbilical cord ulceration - intestinal atresia - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'malformation syndrome' + 'Umbilical cord ulceration - intestinal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Umbilical cord ulceration - intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3406 Label: Ulerythema ophryogenesis - 'Ulerythema ophryogenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ulerythema ophryogenesis' SubClassOf 'part_of' some 'Keratosis pilaris atrophicans' - 'Ulerythema ophryogenesis' SubClassOf 'disease' - 'Ulerythema ophryogenesis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some 'sporadic' + 'Ulerythema ophryogenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratosis pilaris atrophicans' + 'Ulerythema ophryogenesis' SubClassOf 'disease' + 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ulerythema ophryogenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ulerythema ophryogenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_280315 Label: Autoimmune pancreatitis type 2 - 'Autoimmune pancreatitis type 2' SubClassOf 'clinical subtype' - 'Autoimmune pancreatitis type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoimmune pancreatitis type 2' SubClassOf 'part_of' some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 2' SubClassOf 'clinical subtype' + 'Autoimmune pancreatitis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune pancreatitis' + 'Autoimmune pancreatitis type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_141046 Label: Cervical dermoid cyst - 'Cervical dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Cervical dermoid cyst' SubClassOf 'morphological anomaly' + 'Cervical dermoid cyst' SubClassOf 'morphological anomaly' + 'Cervical dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_252028 Label: Primary melanocytic tumor of the central nervous system - 'Primary melanocytic tumor of the central nervous system' SubClassOf 'group of disorders' + 'Primary melanocytic tumor of the central nervous system' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220407 Label: Limited systemic sclerosis - 'Limited systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Limited systemic sclerosis' SubClassOf 'clinical subtype' - 'Limited systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' - 'Limited systemic sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Limited systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Limited systemic sclerosis' SubClassOf 'clinical subtype' + 'Limited systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Limited systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Limited systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_399824 Label: Rare disorder with obstructive azoospermia - 'Rare disorder with obstructive azoospermia' SubClassOf 'group of disorders' + 'Rare disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1187 Label: Lethal ataxia with deafness and optic atrophy - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'Disorder of purine metabolism' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1188 Label: Ataxia-deafness-intellectual disability syndrome - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1185 Label: Spinocerebellar ataxia - dysmorphism - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'disease' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'disease' + 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1186 Label: Infantile onset spinocerebellar ataxia - 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' + 'Infantile onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Infantile onset spinocerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile onset spinocerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile onset spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1183 Label: Opsoclonus-myoclonus syndrome - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Rare disease with myoclonus as a major feature' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'part_of' some 'Brain inflammatory disease' - 'Opsoclonus-myoclonus syndrome' SubClassOf 'disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Opsoclonus-myoclonus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with myoclonus as a major feature' + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brain inflammatory disease' + 'Opsoclonus-myoclonus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.018"^^http://www.w3.org/2001/XMLSchema#string) + 'Opsoclonus-myoclonus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paraneoplastic neurologic syndrome' + 'Opsoclonus-myoclonus syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1182 Label: Spastic ataxia with congenital miosis - 'Spastic ataxia with congenital miosis' SubClassOf 'disease' - 'Spastic ataxia with congenital miosis' SubClassOf 'part_of' some 'Autosomal dominant spastic ataxia' + 'Spastic ataxia with congenital miosis' SubClassOf 'disease' + 'Spastic ataxia with congenital miosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_173505 Label: solute carrier family 6 (proline IMINO transporter), member 20 - 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'gene' - 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 6 (proline IMINO transporter), member 20' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.6"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_252021 Label: Mixed germ cell tumor of the central nervous system - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'clinical subtype' - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'part_of' some 'Mixed germ cell tumor' + 'Mixed germ cell tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed germ cell tumor' + 'Mixed germ cell tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Mixed germ cell tumor of the central nervous system' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1180 Label: Ataxia - hypogonadism - choroidal dystrophy - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'disease' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'disease' + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_304678 Label: solute carrier family 52 (riboflavin transporter), member 2 - 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'gene' - 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 52 (riboflavin transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Riboflavin transporter deficiency' Class: http://www.orpha.net/ORDO/Orphanet_295101 Label: Acheiria, unilateral - 'Acheiria, unilateral' SubClassOf 'clinical subtype' - 'Acheiria, unilateral' SubClassOf 'part_of' some 'Acheiria' + 'Acheiria, unilateral' SubClassOf 'clinical subtype' + 'Acheiria, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_295103 Label: Acheiria, bilateral - 'Acheiria, bilateral' SubClassOf 'clinical subtype' - 'Acheiria, bilateral' SubClassOf 'part_of' some 'Acheiria' + 'Acheiria, bilateral' SubClassOf 'clinical subtype' + 'Acheiria, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiria' Class: http://www.orpha.net/ORDO/Orphanet_295105 Label: Apodia, unilateral - 'Apodia, unilateral' SubClassOf 'part_of' some 'Apodia' - 'Apodia, unilateral' SubClassOf 'clinical subtype' + 'Apodia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Apodia' + 'Apodia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3474 Label: CHIME syndrome - 'CHIME syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CHIME syndrome' SubClassOf 'malformation syndrome' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'CHIME syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CHIME syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'CHIME syndrome' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'CHIME syndrome' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' - 'CHIME syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'CHIME syndrome' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' - 'CHIME syndrome' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' + 'CHIME syndrome' SubClassOf 'malformation syndrome' + 'CHIME syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'CHIME syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'CHIME syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with deafness as a major feature' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'CHIME syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3473 Label: Zimmermann-Laband syndrome - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Zimmermann-Laband syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Zimmermann-Laband syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Zimmermann-Laband syndrome' SubClassOf 'malformation syndrome' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Zimmermann-Laband syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Zimmermann-Laband syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Zimmermann-Laband syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3472 Label: Yunis-Varon syndrome - 'Yunis-Varon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Yunis-Varon syndrome' SubClassOf 'malformation syndrome' - 'Yunis-Varon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Yunis-Varon syndrome' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Yunis-Varon syndrome' SubClassOf 'malformation syndrome' + 'Yunis-Varon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Yunis-Varon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_3471 Label: Young syndrome - 'Young syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Young syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Young syndrome' SubClassOf 'disease' - 'Young syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Young syndrome' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' - 'Young syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Young syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Young syndrome' SubClassOf 'part_of' some 'Rare genetic disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Young syndrome' SubClassOf 'disease' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disorder with obstructive azoospermia' + 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_141051 Label: Facial dermoid cyst - 'Facial dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Facial dermoid cyst' SubClassOf 'morphological anomaly' + 'Facial dermoid cyst' SubClassOf 'morphological anomaly' + 'Facial dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' Class: http://www.orpha.net/ORDO/Orphanet_123003 Label: lamin B receptor - 'lamin B receptor' SubClassOf 'Major susceptibility factor in' some 'Reynolds syndrome' - 'lamin B receptor' SubClassOf 'gene' - 'lamin B receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greenberg dysplasia' + 'lamin B receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lamin B receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.1"^^http://www.w3.org/2001/XMLSchema#string + 'lamin B receptor' SubClassOf 'Major susceptibility factor in' some 'Reynolds syndrome' + 'lamin B receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Greenberg dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_123006 Label: lecithin-cholesterol acyltransferase - 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fish-eye disease' - 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial LCAT deficiency' - 'lecithin-cholesterol acyltransferase' SubClassOf 'gene' + 'lecithin-cholesterol acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lecithin-cholesterol acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fish-eye disease' + 'lecithin-cholesterol acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial LCAT deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123008 Label: lactase - 'lactase' SubClassOf 'gene' - 'lactase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactase deficiency' + 'lactase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string + 'lactase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lactase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital lactase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_295128 Label: Brachydactyly of fingers, unilateral - 'Brachydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Brachydactyly of fingers' - 'Brachydactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_295138 Label: Symbrachydactyly of hand and foot, bilateral - 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'part_of' some 'Symbrachydactyly of hands and feet' - 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'clinical subtype' + 'Symbrachydactyly of hand and foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220443 Label: Bleeding diathesis due to thromboxane synthesis deficiency - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'disease' + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'disease' + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_356164 Label: solute carrier family 18 (vesicular monoamine transporter), member 2 - 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain dopamine-serotonin vesicular transport disease' - 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf 'gene' + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Brain dopamine-serotonin vesicular transport disease' + 'solute carrier family 18 (vesicular monoamine transporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_304648 Label: phosphatidylinositol glycan anchor biosynthesis, class O - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'gene' - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295136 Label: Symbrachydactyly of hand and foot, unilateral - 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'clinical subtype' - 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'part_of' some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Symbrachydactyly of hands and feet' + 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220448 Label: Macrothrombocytopenia with mitral valve insufficiency - 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'part_of' some 'Inherited giant platelet disorder' - 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'disease' + 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited giant platelet disorder' + 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295134 Label: Brachydactyly of toes, bilateral - 'Brachydactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Brachydactyly of toes, bilateral' SubClassOf 'part_of' some 'Brachydactyly of toes' + 'Brachydactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_356169 Label: guanine nucleotide binding protein (G protein), beta polypeptide 4 - 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' - 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), beta polypeptide 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295132 Label: Brachydactyly of toes, unilateral - 'Brachydactyly of toes, unilateral' SubClassOf 'part_of' some 'Brachydactyly of toes' - 'Brachydactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of toes' + 'Brachydactyly of toes, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295130 Label: Brachydactyly of fingers, bilateral - 'Brachydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Brachydactyly of fingers' - 'Brachydactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Brachydactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachydactyly of fingers' + 'Brachydactyly of fingers, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_180065 Label: Non-syndromic uterovaginal malformation - 'Non-syndromic uterovaginal malformation' SubClassOf 'group of disorders' + 'Non-syndromic uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180062 Label: Uterovaginal malformation - 'Uterovaginal malformation' SubClassOf 'group of disorders' + 'Uterovaginal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3463 Label: Wolfram syndrome - 'Wolfram syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Wolfram syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 1' - 'Wolfram syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wolfram syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Wolfram syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Wolfram syndrome' SubClassOf 'disease' + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.83"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 1' + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wolfram syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Wolfram syndrome' SubClassOf 'disease' + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wolfram syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_3465 Label: Worster-Drought syndrome - 'Worster-Drought syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Worster-Drought syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Worster-Drought syndrome' SubClassOf 'malformation syndrome' - 'Worster-Drought syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Worster-Drought syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Worster-Drought syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Worster-Drought syndrome' SubClassOf 'malformation syndrome' + 'Worster-Drought syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Worster-Drought syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_3464 Label: Woodhouse-Sakati syndrome - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Woodhouse-Sakati syndrome' SubClassOf 'disease' - 'Woodhouse-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Woodhouse-Sakati syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with dystonia and other neurologic or systemic manifestation' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Woodhouse-Sakati syndrome' SubClassOf 'disease' + 'Woodhouse-Sakati syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Woodhouse-Sakati syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_141061 Label: Commissural lip fistula - 'Commissural lip fistula' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Commissural lip fistula' SubClassOf 'morphological anomaly' + 'Commissural lip fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Commissural lip fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180068 Label: Partial bilateral aplasia of the M�llerian ducts - 'Partial bilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' + 'Partial bilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_3460 Label: Torg-Winchester syndrome - 'Torg-Winchester syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Torg-Winchester syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Torg-Winchester syndrome' SubClassOf 'part_of' some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' - 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' - 'Torg-Winchester syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Torg-Winchester syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Torg-Winchester syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Torg-Winchester syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Torg-Winchester syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_141064 Label: Lower lip fistula - 'Lower lip fistula' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Lower lip fistula' SubClassOf 'morphological anomaly' + 'Lower lip fistula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Lower lip fistula' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_160048 Label: aurora kinase C - 'aurora kinase C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' - 'aurora kinase C' SubClassOf 'gene' + 'aurora kinase C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aurora kinase C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.43"^^http://www.w3.org/2001/XMLSchema#string + 'aurora kinase C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' Class: http://www.orpha.net/ORDO/Orphanet_141067 Label: Cervicofacial fibrochondroma - 'Cervicofacial fibrochondroma' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Cervicofacial fibrochondroma' SubClassOf 'morphological anomaly' + 'Cervicofacial fibrochondroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Cervicofacial fibrochondroma' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_252006 Label: Yolk sac tumor of the central nervous system - 'Yolk sac tumor of the central nervous system' SubClassOf 'part_of' some 'Primary germ cell tumor of the central nervous system' - 'Yolk sac tumor of the central nervous system' SubClassOf 'clinical subtype' - 'Yolk sac tumor of the central nervous system' SubClassOf 'part_of' some 'Yolk sac tumor' + 'Yolk sac tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary germ cell tumor of the central nervous system' + 'Yolk sac tumor of the central nervous system' SubClassOf 'clinical subtype' + 'Yolk sac tumor of the central nervous system' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Yolk sac tumor' Class: http://www.orpha.net/ORDO/Orphanet_356172 Label: pyruvate dehydrogenase kinase, isozyme 3 - 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Charcot-Marie-Tooth disease type 6' - 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf 'gene' + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.12"^^http://www.w3.org/2001/XMLSchema#string + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pyruvate dehydrogenase kinase, isozyme 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'X-linked Charcot-Marie-Tooth disease type 6' Class: http://www.orpha.net/ORDO/Orphanet_3467 Label: Hereditary xanthinuria - 'Hereditary xanthinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary xanthinuria' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Hereditary xanthinuria' SubClassOf 'disease' - 'Hereditary xanthinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary xanthinuria' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Hereditary xanthinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Hereditary xanthinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary xanthinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary xanthinuria' SubClassOf 'disease' + 'Hereditary xanthinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_295118 Label: Adactyly of foot, bilateral - 'Adactyly of foot, bilateral' SubClassOf 'clinical subtype' - 'Adactyly of foot, bilateral' SubClassOf 'part_of' some 'Acheiropodia' + 'Adactyly of foot, bilateral' SubClassOf 'clinical subtype' + 'Adactyly of foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acheiropodia' Class: http://www.orpha.net/ORDO/Orphanet_3466 Label: WT limb-blood syndrome - 'WT limb-blood syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'WT limb-blood syndrome' SubClassOf 'disease' - 'WT limb-blood syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'WT limb-blood syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'WT limb-blood syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'WT limb-blood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'WT limb-blood syndrome' SubClassOf 'disease' + 'WT limb-blood syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'WT limb-blood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'WT limb-blood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_3469 Label: XK aprosencephaly - 'XK aprosencephaly' SubClassOf 'malformation syndrome' - 'XK aprosencephaly' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'XK aprosencephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'XK aprosencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'XK aprosencephaly' SubClassOf 'malformation syndrome' + 'XK aprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'XK aprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'XK aprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'XK aprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295124 Label: Split foot, unilateral - 'Split foot, unilateral' SubClassOf 'part_of' some 'Split foot' - 'Split foot, unilateral' SubClassOf 'clinical subtype' + 'Split foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split foot' + 'Split foot, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_356176 Label: laminin, beta 1 - 'laminin, beta 1' SubClassOf 'gene' - 'laminin, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cobblestone lissencephaly without muscular or ocular involvement' + 'laminin, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string + 'laminin, beta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cobblestone lissencephaly without muscular or ocular involvement' + 'laminin, beta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295126 Label: Split foot, bilateral - 'Split foot, bilateral' SubClassOf 'part_of' some 'Split foot' - 'Split foot, bilateral' SubClassOf 'clinical subtype' + 'Split foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split foot' + 'Split foot, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label: apolipoprotein C-III - 'apolipoprotein C-III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' - 'apolipoprotein C-III' SubClassOf 'gene' + 'apolipoprotein C-III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cholesterol-ester transfer protein deficiency' + 'apolipoprotein C-III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'apolipoprotein C-III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295120 Label: Split hand, unilateral - 'Split hand, unilateral' SubClassOf 'clinical subtype' - 'Split hand, unilateral' SubClassOf 'part_of' some 'Split hand' + 'Split hand, unilateral' SubClassOf 'clinical subtype' + 'Split hand, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand' Class: http://www.orpha.net/ORDO/Orphanet_160055 Label: beaded filament structural protein 1, filensin - 'beaded filament structural protein 1, filensin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive childhood-onset cortical cataract' - 'beaded filament structural protein 1, filensin' SubClassOf 'gene' + 'beaded filament structural protein 1, filensin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive childhood-onset cortical cataract' + 'beaded filament structural protein 1, filensin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'beaded filament structural protein 1, filensin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295122 Label: Split hand, bilateral - 'Split hand, bilateral' SubClassOf 'part_of' some 'Split hand' - 'Split hand, bilateral' SubClassOf 'clinical subtype' + 'Split hand, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand' + 'Split hand, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220436 Label: Quebec platelet disorder - 'Quebec platelet disorder' SubClassOf 'disease' - 'Quebec platelet disorder' SubClassOf 'part_of' some 'Alpha granule disease' + 'Quebec platelet disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Quebec platelet disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alpha granule disease' + 'Quebec platelet disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.45"^^http://www.w3.org/2001/XMLSchema#string) + 'Quebec platelet disorder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180071 Label: Unilateral aplasia of the M�llerian ducts - 'Unilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' + 'Unilateral aplasia of the M�llerian ducts' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180074 Label: True unicornuate uterus - 'True unicornuate uterus' SubClassOf 'morphological anomaly' - 'True unicornuate uterus' SubClassOf 'part_of' some 'Unilateral aplasia of the M�llerian ducts' + 'True unicornuate uterus' SubClassOf 'morphological anomaly' + 'True unicornuate uterus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unilateral aplasia of the M�llerian ducts' Class: http://www.orpha.net/ORDO/Orphanet_3450 Label: Weissenbacher- Zweymuller syndrome - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Type 11 collagen-related bone disorder' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'malformation syndrome' - 'Weissenbacher- Zweymuller syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 11 collagen-related bone disorder' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weissenbacher- Zweymuller syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weissenbacher- Zweymuller syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141074 Label: External auditory canal aplasia/hypoplasia - 'External auditory canal aplasia/hypoplasia' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly' - 'External auditory canal aplasia/hypoplasia' SubClassOf 'morphological anomaly' + 'External auditory canal aplasia/hypoplasia' SubClassOf 'morphological anomaly' + 'External auditory canal aplasia/hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pinnae and external auditory canal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123021 Label: low density lipoprotein receptor - 'low density lipoprotein receptor' SubClassOf 'gene' - 'low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_173556 Label: component of oligomeric golgi complex 1 - 'component of oligomeric golgi complex 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG1-CDG' - 'component of oligomeric golgi complex 1' SubClassOf 'gene' + 'component of oligomeric golgi complex 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG1-CDG' + 'component of oligomeric golgi complex 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123023 Label: low density lipoprotein receptor adaptor protein 1 - 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' - 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'gene' + 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'low density lipoprotein receptor adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'low density lipoprotein receptor adaptor protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36-p35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3454 Label: Intellectual disability-developmental delay-contractures syndrome - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_267232 Label: mitochondrial ribosomal protein S16 - 'mitochondrial ribosomal protein S16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 2' - 'mitochondrial ribosomal protein S16' SubClassOf 'gene' + 'mitochondrial ribosomal protein S16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 2' + 'mitochondrial ribosomal protein S16' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein S16' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_3453 Label: Autoimmune polyendocrinopathy type 1 - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'disease' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic hypoparathyroidism' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Rare female infertility due to an anomaly of ovarian function' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Rare hypoparathyroidism' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Acquired premature ovarian failure' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'disease' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired premature ovarian failure' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to an anomaly of ovarian function' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypoparathyroidism' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Autoimmune polyendocrinopathy type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_141071 Label: Digestive duplication cyst of the tongue - 'Digestive duplication cyst of the tongue' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Digestive duplication cyst of the tongue' SubClassOf 'morphological anomaly' + 'Digestive duplication cyst of the tongue' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Digestive duplication cyst of the tongue' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_3452 Label: Whipple disease - 'Whipple disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Whipple disease' SubClassOf 'part_of' some 'Rare intestinal disease' - 'Whipple disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Whipple disease' SubClassOf 'part_of' some 'Rare disease with myoclonus as a major feature' - 'Whipple disease' SubClassOf 'disease' - 'Whipple disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Whipple disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Whipple disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Whipple disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Whipple disease' SubClassOf 'disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Whipple disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with myoclonus as a major feature' + 'Whipple disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) Class: http://www.orpha.net/ORDO/Orphanet_3451 Label: West syndrome - 'West syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'West syndrome' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'West syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'West syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'West syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'West syndrome' SubClassOf 'clinical syndrome' - 'West syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'West syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'West syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'West syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.25"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.9"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "31.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf 'clinical syndrome' + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'West syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'West syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_356180 Label: cathepsin F - 'cathepsin F' SubClassOf 'gene' - 'cathepsin F' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN13 disease' + 'cathepsin F' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin F' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin F' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN13 disease' Class: http://www.orpha.net/ORDO/Orphanet_267235 Label: Tu translation elongation factor, mitochondrial - 'Tu translation elongation factor, mitochondrial' SubClassOf 'gene' - 'Tu translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 4' + 'Tu translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Tu translation elongation factor, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 4' + 'Tu translation elongation factor, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_3456 Label: Wildervanck syndrome - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Wildervanck syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Wildervanck syndrome' SubClassOf 'malformation syndrome' - 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Wildervanck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wildervanck syndrome' SubClassOf 'malformation syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Wildervanck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3455 Label: Wiedemann-Rautenstrauch syndrome - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Secondary ectropion' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'malformation syndrome' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'malformation syndrome' + 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3459 Label: Wilson-Turner syndrome - 'Wilson-Turner syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Wilson-Turner syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Wilson-Turner syndrome' SubClassOf 'malformation syndrome' - 'Wilson-Turner syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Wilson-Turner syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Wilson-Turner syndrome' SubClassOf 'malformation syndrome' + 'Wilson-Turner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Wilson-Turner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Wilson-Turner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_141077 Label: Epignathus - 'Epignathus' SubClassOf 'part_of' some 'Teratoma' - 'Epignathus' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Epignathus' SubClassOf 'clinical subtype' + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Epignathus' SubClassOf 'clinical subtype' + 'Epignathus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' Class: http://www.orpha.net/ORDO/Orphanet_160067 Label: complement component 4A (Rodgers blood group) - 'complement component 4A (Rodgers blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' - 'complement component 4A (Rodgers blood group)' SubClassOf 'gene' - 'complement component 4A (Rodgers blood group)' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'complement component 4A (Rodgers blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to an early component of complement deficiency' + 'complement component 4A (Rodgers blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 4A (Rodgers blood group)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 4A (Rodgers blood group)' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' Class: http://www.orpha.net/ORDO/Orphanet_295154 Label: Polydactyly of an index finger, bilateral - 'Polydactyly of an index finger, bilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger' - 'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of an index finger, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of an index finger' Class: http://www.orpha.net/ORDO/Orphanet_295159 Label: Polysyndactyly, unilateral - 'Polysyndactyly, unilateral' SubClassOf 'part_of' some 'Polysyndactyly' - 'Polysyndactyly, unilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, unilateral' SubClassOf 'clinical subtype' + 'Polysyndactyly, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysyndactyly' Class: http://www.orpha.net/ORDO/Orphanet_160064 Label: complement component 3 - 'complement component 3' SubClassOf 'gene' - 'complement component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complement component 3 deficiency' - 'complement component 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with C3 anomaly' + 'complement component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complement component 3 deficiency' + 'complement component 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with C3 anomaly' + 'complement component 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3-p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_220465 Label: Laron syndrome with immunodeficiency - 'Laron syndrome with immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Laron syndrome with immunodeficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Laron syndrome with immunodeficiency' SubClassOf 'part_of' some 'Growth hormone insensitivity syndrome' - 'Laron syndrome with immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Laron syndrome with immunodeficiency' SubClassOf 'disease' + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Laron syndrome with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Laron syndrome with immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Growth hormone insensitivity syndrome' + 'Laron syndrome with immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233025 Label: RNA binding motif protein 10 - 'RNA binding motif protein 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'TARP syndrome' - 'RNA binding motif protein 10' SubClassOf 'gene' + 'RNA binding motif protein 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.3"^^http://www.w3.org/2001/XMLSchema#string + 'RNA binding motif protein 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'TARP syndrome' + 'RNA binding motif protein 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_173562 Label: LMBR1 domain containing 1 - 'LMBR1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria type cblF' - 'LMBR1 domain containing 1' SubClassOf 'gene' + 'LMBR1 domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria type cblF' + 'LMBR1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'LMBR1 domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_220460 Label: Attenuated familial adenomatous polyposis - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Genetic digestive tract tumor' - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Attenuated familial adenomatous polyposis' SubClassOf 'disease' - 'Attenuated familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Attenuated familial adenomatous polyposis' SubClassOf 'disease' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic digestive tract tumor' + 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95699 Label: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'disease' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some '46,XX disorder of sex development induced by fetal androgens excess' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some 'Congenital adrenal hyperplasia' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'part_of' some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'disease' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XX disorder of sex development induced by fetal androgens excess' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital adrenal hyperplasia' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_295152 Label: Polydactyly of an index finger, unilateral - 'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype' - 'Polydactyly of an index finger, unilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger' + 'Polydactyly of an index finger, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of an index finger' + 'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295150 Label: Polydactyly of a triphalangeal thumb, bilateral - 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb' - 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_141083 Label: Nasolacrimal duct cyst - 'Nasolacrimal duct cyst' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasolacrimal duct cyst' SubClassOf 'malformation syndrome' + 'Nasolacrimal duct cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Nasolacrimal duct cyst' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123010 Label: LIM domain binding 3 - 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'LIM domain binding 3' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset distal myopathy, Markesbery-Griggs type' - 'LIM domain binding 3' SubClassOf 'gene' + 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'LIM domain binding 3' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'LIM domain binding 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM domain binding 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3-q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset distal myopathy, Markesbery-Griggs type' Class: http://www.orpha.net/ORDO/Orphanet_3440 Label: Waardenburg syndrome - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Waardenburg syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Waardenburg syndrome' SubClassOf 'disease' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Eyebrow/eyelashes pigmentation anomaly' - 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Pigmentation disorder with eye involvement, excluding albinism' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Waardenburg syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndrome associated with Pierre Robin syndrome' - 'Waardenburg syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Waardenburg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation disorder with eye involvement, excluding albinism' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf 'disease' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypopigmentation of the skin' + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Waardenburg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with Pierre Robin syndrome' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.37"^^http://www.w3.org/2001/XMLSchema#string) + 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes pigmentation anomaly' + 'Waardenburg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_3447 Label: Weaver syndrome - 'Weaver syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weaver syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Weaver syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Weaver syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Weaver syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weaver syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weaver syndrome' SubClassOf 'malformation syndrome' - 'Weaver syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Weaver syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Weaver syndrome' SubClassOf 'malformation syndrome' + 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Weaver syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weaver syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weaver syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_356190 Label: polymerase (DNA directed), epsilon, catalytic subunit - 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facial dysmorphism - immunodeficiency - livedo - short stature' - 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'gene' + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polymerase (DNA directed), epsilon, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facial dysmorphism - immunodeficiency - livedo - short stature' Class: http://www.orpha.net/ORDO/Orphanet_3449 Label: Weill-Marchesani syndrome - 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Weill-Marchesani syndrome' SubClassOf 'malformation syndrome' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Lens size anomaly' - 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Weill-Marchesani syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Weill-Marchesani syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Weill-Marchesani syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Weill-Marchesani syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weill-Marchesani syndrome' SubClassOf 'malformation syndrome' + 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' + 'Weill-Marchesani syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3448 Label: Weaver-Williams syndrome - 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Weaver-Williams syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' - 'Weaver-Williams syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Weaver-Williams syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Weaver-Williams syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Weaver-Williams syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Weaver-Williams syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123017 Label: lactate dehydrogenase B - 'lactate dehydrogenase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' - 'lactate dehydrogenase B' SubClassOf 'gene' + 'lactate dehydrogenase B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' + 'lactate dehydrogenase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p12.2-p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'lactate dehydrogenase B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_123015 Label: lactate dehydrogenase A - 'lactate dehydrogenase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' - 'lactate dehydrogenase A' SubClassOf 'gene' + 'lactate dehydrogenase A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' + 'lactate dehydrogenase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lactate dehydrogenase A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295142 Label: Hyperphalangy, bilateral - 'Hyperphalangy, bilateral' SubClassOf 'part_of' some 'Hyperphalangy' - 'Hyperphalangy, bilateral' SubClassOf 'clinical subtype' + 'Hyperphalangy, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphalangy' + 'Hyperphalangy, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295144 Label: Polydactyly of a biphalangeal thumb, unilateral - 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb' - 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a biphalangeal thumb' + 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295146 Label: Polydactyly of a biphalangeal thumb, bilateral - 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb' - 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a biphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_220452 Label: Inherited giant platelet disorder - 'Inherited giant platelet disorder' SubClassOf 'group of disorders' + 'Inherited giant platelet disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295148 Label: Polydactyly of a triphalangeal thumb, unilateral - 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb' - 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype' + 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly of a triphalangeal thumb' Class: http://www.orpha.net/ORDO/Orphanet_233035 Label: FK506 binding protein 10, 65 kDa - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bruck syndrome' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis-like syndrome' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'gene' - 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' + 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arthrogryposis-like syndrome' + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bruck syndrome' + 'FK506 binding protein 10, 65 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 5' + 'FK506 binding protein 10, 65 kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_206492 Label: Vulvovaginal rhabdomyosarcoma - 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'disease' - 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' + 'Vulvovaginal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' + 'Vulvovaginal rhabdomyosarcoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233032 Label: low density lipoprotein receptor-related protein 4 - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sclerosteosis' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cenani-Lenz syndrome' - 'low density lipoprotein receptor-related protein 4' SubClassOf 'gene' + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cenani-Lenz syndrome' + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sclerosteosis' + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'low density lipoprotein receptor-related protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_295140 Label: Hyperphalangy, unilateral - 'Hyperphalangy, unilateral' SubClassOf 'part_of' some 'Hyperphalangy' - 'Hyperphalangy, unilateral' SubClassOf 'clinical subtype' + 'Hyperphalangy, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphalangy' + 'Hyperphalangy, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_376557 Label: adenosine monophosphate deaminase 2 - 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 63' - 'adenosine monophosphate deaminase 2' SubClassOf 'gene' - 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 9' + 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 63' + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine monophosphate deaminase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pontocerebellar hypoplasia type 9' Class: http://www.orpha.net/ORDO/Orphanet_180253 Label: Rare benign breast tumor - 'Rare benign breast tumor' SubClassOf 'group of disorders' + 'Rare benign breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180250 Label: Rare breast tumor - 'Rare breast tumor' SubClassOf 'group of disorders' + 'Rare breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157794 Label: Hereditary mixed polyposis syndrome - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Hereditary mixed polyposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary mixed polyposis syndrome' SubClassOf 'disease' - 'Hereditary mixed polyposis syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' - 'Hereditary mixed polyposis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Hereditary mixed polyposis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary mixed polyposis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary mixed polyposis syndrome' SubClassOf 'disease' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_399786 Label: Male infertility with spermatogenesis disorder due to single gene mutation - 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157791 Label: Epithelioid hemangioendothelioma - 'Epithelioid hemangioendothelioma' SubClassOf 'disease' - 'Epithelioid hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Epithelioid hemangioendothelioma' SubClassOf 'part_of' some 'Vascular tumor' + 'Epithelioid hemangioendothelioma' SubClassOf 'disease' + 'Epithelioid hemangioendothelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Epithelioid hemangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_1340 Label: Cardiofaciocutaneous syndrome - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'malformation syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' - 'Cardiofaciocutaneous syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cardiofaciocutaneous syndrome' SubClassOf 'malformation syndrome' + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cardiofaciocutaneous syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180247 Label: Vaginal carcinoma - 'Vaginal carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor' - 'Vaginal carcinoma' SubClassOf 'disease' + 'Vaginal carcinoma' SubClassOf 'disease' + 'Vaginal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare vulvovaginal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1342 Label: Heart-hand syndrome type 3 - 'Heart-hand syndrome type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Heart-hand syndrome type 3' SubClassOf 'malformation syndrome' - 'Heart-hand syndrome type 3' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180245 Label: spastic paraplegia 38 (autosomal dominant, Silver syndrome) - 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'gene' - 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 38' + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 38' + 'spastic paraplegia 38 (autosomal dominant, Silver syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p16-p15"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_122204 Label: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cone dystrophy' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1344 Label: Atrial stand still - 'Atrial stand still' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Atrial stand still' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Atrial stand still' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Atrial stand still' SubClassOf 'has_inheritance' some 'sporadic' - 'Atrial stand still' SubClassOf 'has_prevalence' some 'Unknown' - 'Atrial stand still' SubClassOf 'disease' - 'Atrial stand still' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Atrial stand still' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atrial stand still' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' + 'Atrial stand still' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atrial stand still' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Atrial stand still' SubClassOf 'disease' + 'Atrial stand still' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_1345 Label: Cardiomyopathy - cataract - hip spine disease - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'clinical syndrome' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'clinical syndrome' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_122207 Label: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'gene' - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Nonaka type' - 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialuria' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myopathy, Nonaka type' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sialuria' + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_157798 Label: Hyperplastic polyposis syndrome - 'Hyperplastic polyposis syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Genetic intestinal polyposis' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'Hyperplastic polyposis syndrome' SubClassOf 'disease' - 'Hyperplastic polyposis syndrome' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal polyposis' + 'Hyperplastic polyposis syndrome' SubClassOf 'disease' + 'Hyperplastic polyposis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_1349 Label: Maternally-inherited cardiomyopathy and hearing loss - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'malformation syndrome' + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122202 Label: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'gene' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_280397 Label: Familial Alzheimer-like prion disease - 'Familial Alzheimer-like prion disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial Alzheimer-like prion disease' SubClassOf 'part_of' some 'Inherited prion disease' - 'Familial Alzheimer-like prion disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial Alzheimer-like prion disease' SubClassOf 'disease' - 'Familial Alzheimer-like prion disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial Alzheimer-like prion disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial Alzheimer-like prion disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Familial Alzheimer-like prion disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial Alzheimer-like prion disease' SubClassOf 'disease' + 'Familial Alzheimer-like prion disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_34514 Label: Autosomal recessive limb-girdle muscular dystrophy type 2G - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'part_of' some 'Qualitative or quantitative defects of telethonin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of telethonin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_376545 Label: interphotoreceptor matrix proteoglycan 1 - 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' - 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'gene' + 'interphotoreceptor matrix proteoglycan 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interphotoreceptor matrix proteoglycan 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.2-q15"^^http://www.w3.org/2001/XMLSchema#string + 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset foveomacular vitelliform dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_34515 Label: Autosomal recessive limb-girdle muscular dystrophy type 2I - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Qualitative or quantitative defects of FKRP' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of FKRP' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.71"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' Class: http://www.orpha.net/ORDO/Orphanet_280390 Label: ER lipid raft associated 2 - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile primary lateral sclerosis' - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' - 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 18' - 'ER lipid raft associated 2' SubClassOf 'gene' + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Juvenile primary lateral sclerosis' + 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' + 'ER lipid raft associated 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 18' + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ER lipid raft associated 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180240 Label: spastic paraplegia 37 (autosomal dominant) - 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 37' - 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 37' + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 37 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_218672 Label: glycerol-3-phosphate dehydrogenase 1-like - 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'gene' - 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycerol-3-phosphate dehydrogenase 1-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_180242 Label: Malignant tumor of fallopian tubes - 'Malignant tumor of fallopian tubes' SubClassOf 'disease' - 'Malignant tumor of fallopian tubes' SubClassOf 'part_of' some 'Rare uterine adnexal tumor' - 'Malignant tumor of fallopian tubes' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare uterine adnexal tumor' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf 'disease' + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Malignant tumor of fallopian tubes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_180237 Label: Benign tumor of fallopian tubes - 'Benign tumor of fallopian tubes' SubClassOf 'part_of' some 'Rare uterine adnexal tumor' - 'Benign tumor of fallopian tubes' SubClassOf 'disease' + 'Benign tumor of fallopian tubes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare uterine adnexal tumor' + 'Benign tumor of fallopian tubes' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_239021 Label: twist family bHLH transcription factor 2 - 'twist family bHLH transcription factor 2' SubClassOf 'gene' - 'twist family bHLH transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type III' + 'twist family bHLH transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'twist family bHLH transcription factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'twist family bHLH transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type III' Class: http://www.orpha.net/ORDO/Orphanet_399775 Label: Male infertility with spermatogenesis disorder - 'Male infertility with spermatogenesis disorder' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1352 Label: Atrioventricular defect - blepharophimosis -radial defects - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'malformation syndrome' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'part_of' some 'Ptosis' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'malformation syndrome' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' Class: http://www.orpha.net/ORDO/Orphanet_180234 Label: Mixed germ cell tumor - 'Mixed germ cell tumor' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Mixed germ cell tumor' SubClassOf 'disease' + 'Mixed germ cell tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Mixed germ cell tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1350 Label: Heart-hand syndrome type 2 - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart-hand syndrome type 2' SubClassOf 'malformation syndrome' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart-hand syndrome type 2' SubClassOf 'part_of' some 'Heart-hand syndrome' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart-hand syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Heart-hand syndrome type 2' SubClassOf 'malformation syndrome' + 'Heart-hand syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218675 Label: sodium channel, voltage-gated, type III, beta subunit - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'gene' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1354 Label: Heart defects - limb shortening - 'Heart defects - limb shortening' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Heart defects - limb shortening' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defects - limb shortening' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Heart defects - limb shortening' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defects - limb shortening' SubClassOf 'malformation syndrome' - 'Heart defects - limb shortening' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Heart defects - limb shortening' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Heart defects - limb shortening' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Heart defects - limb shortening' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects - limb shortening' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defects - limb shortening' SubClassOf 'malformation syndrome' + 'Heart defects - limb shortening' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1355 Label: Heart defect - round face - congenital developmental delay - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Heart defect - round face - congenital developmental delay' SubClassOf 'malformation syndrome' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Heart defect - round face - congenital developmental delay' SubClassOf 'malformation syndrome' + 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122216 Label: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 2' - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'gene' - 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 3' + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 2' + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_1358 Label: Carey-Fineman-Ziter syndrome - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carey-Fineman-Ziter syndrome' SubClassOf 'malformation syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carey-Fineman-Ziter syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carey-Fineman-Ziter syndrome' SubClassOf 'malformation syndrome' + 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122211 Label: glyceronephosphate O-acyltransferase - 'glyceronephosphate O-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 2' - 'glyceronephosphate O-acyltransferase' SubClassOf 'gene' + 'glyceronephosphate O-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42"^^http://www.w3.org/2001/XMLSchema#string + 'glyceronephosphate O-acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 2' + 'glyceronephosphate O-acyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399771 Label: Male infertility due to sperm disorder - 'Male infertility due to sperm disorder' SubClassOf 'group of disorders' + 'Male infertility due to sperm disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1359 Label: Carney complex - 'Carney complex' SubClassOf 'part_of' some 'Rare disease with Cushing syndrome as a major feature' - 'Carney complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carney complex' SubClassOf 'part_of' some 'Adrenal/paraganglial tumor' - 'Carney complex' SubClassOf 'part_of' some 'Multiple polyglandular tumor' - 'Carney complex' SubClassOf 'part_of' some 'Rare cardiac tumor' - 'Carney complex' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Carney complex' SubClassOf 'part_of' some 'Genetic cardiac tumor' - 'Carney complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carney complex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Carney complex' SubClassOf 'part_of' some 'Mesenchymatous palpebral tumor' - 'Carney complex' SubClassOf 'disease' - 'Carney complex' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Carney complex' SubClassOf 'part_of' some 'Palpebral lentiginosis' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesenchymatous palpebral tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral lentiginosis' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple polyglandular tumor' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adrenal/paraganglial tumor' + 'Carney complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Carney complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carney complex' SubClassOf 'disease' + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with Cushing syndrome as a major feature' + 'Carney complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Carney complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_34521 Label: Distal myopathy with early respiratory muscle involvement - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'disease' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant distal myopathy' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'disease' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal myopathy with early respiratory muscle involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_376535 Label: DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 - 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 14' - 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'gene' + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'DEAD (Asp-Glu-Ala-Asp) box polypeptide 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 14' Class: http://www.orpha.net/ORDO/Orphanet_34520 Label: Congenital muscular dystrophy with integrin alpha-7 deficiency - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'part_of' some 'Qualitative or quantitative defects of integrin alpha-7' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'disease' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'disease' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of integrin alpha-7' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label: Familial primary hypomagnesemia - 'Familial primary hypomagnesemia' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial primary hypomagnesemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial primary hypomagnesemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_404440 Label: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251307 Label: Idiopathic recurrent pericarditis - 'Idiopathic recurrent pericarditis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic recurrent pericarditis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic recurrent pericarditis' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Idiopathic recurrent pericarditis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic recurrent pericarditis' SubClassOf 'disease' + 'Idiopathic recurrent pericarditis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic recurrent pericarditis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic recurrent pericarditis' SubClassOf 'disease' + 'Idiopathic recurrent pericarditis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180270 Label: spastic paraplegia 24 (autosomal recessive) - 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 24' - 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'gene' + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 24' + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 24 (autosomal recessive)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251304 Label: Infantile onset panniculitis with uveitis and systemic granulomatosis - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'disease' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some 'Granulomatous autoinflammatory syndrome' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Granulomatous autoinflammatory syndrome' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'disease' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180275 Label: Paget disease of the nipple - 'Paget disease of the nipple' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Paget disease of the nipple' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Paget disease of the nipple' SubClassOf 'disease' + 'Paget disease of the nipple' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Paget disease of the nipple' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paget disease of the nipple' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180273 Label: DDHD domain containing 1 - 'DDHD domain containing 1' SubClassOf 'gene' - 'DDHD domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 28' + 'DDHD domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21"^^http://www.w3.org/2001/XMLSchema#string + 'DDHD domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 28' + 'DDHD domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1361 Label: Carnosinemia - 'Carnosinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnosinemia' SubClassOf 'disease' - 'Carnosinemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Carnosinemia' SubClassOf 'part_of' some 'Disorder of peptide metabolism' - 'Carnosinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Carnosinemia' SubClassOf 'disease' + 'Carnosinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of peptide metabolism' + 'Carnosinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnosinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnosinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_404448 Label: ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'malformation syndrome' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180267 Label: Giant adenofibroma of the breast - 'Giant adenofibroma of the breast' SubClassOf 'disease' - 'Giant adenofibroma of the breast' SubClassOf 'part_of' some 'Rare benign breast tumor' + 'Giant adenofibroma of the breast' SubClassOf 'disease' + 'Giant adenofibroma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_404443 Label: Tall stature-intellectual disability-facial dysmorphism syndrome - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_399764 Label: Male infertility due to gonadal dysgenesis or sperm disorder - 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'group of disorders' + 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_239011 Label: lysine (K)-specific methyltransferase 2D - 'lysine (K)-specific methyltransferase 2D' SubClassOf 'gene' - 'lysine (K)-specific methyltransferase 2D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' + 'lysine (K)-specific methyltransferase 2D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lysine (K)-specific methyltransferase 2D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.12"^^http://www.w3.org/2001/XMLSchema#string + 'lysine (K)-specific methyltransferase 2D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kabuki syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251312 Label: Overlapping connective tissue disease - 'Overlapping connective tissue disease' SubClassOf 'group of disorders' + 'Overlapping connective tissue disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156202 Label: Otomandibular dysplasia associated with monogenic syndromes - 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'group of disorders' + 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1369 Label: Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Cardiac disease with cataract' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cardiac disease with cataract' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_34517 Label: Autosomal dominant limb-girdle muscular dystrophy type 1E - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_34516 Label: Autosomal dominant limb-girdle muscular dystrophy type 1D - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254343 Label: Autosomal recessive spastic ataxia - optic atrophy - dysarthria - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_306073 Label: sortilin-related receptor, L(DLR class) A repeats containing - 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'gene' - 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.2-q24.4"^^http://www.w3.org/2001/XMLSchema#string + 'sortilin-related receptor, L(DLR class) A repeats containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1366 Label: Autosomal recessive palmoplantar keratoderma and congenital alopecia - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156207 Label: Macroglossia - 'Macroglossia' SubClassOf 'group of disorders' + 'Macroglossia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1368 Label: Cataract - ataxia - deafness - 'Cataract - ataxia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cataract - ataxia - deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - ataxia - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - ataxia - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - ataxia - deafness' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Cataract - ataxia - deafness' SubClassOf 'malformation syndrome' + 'Cataract - ataxia - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Cataract - ataxia - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - ataxia - deafness' SubClassOf 'malformation syndrome' + 'Cataract - ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cataract - ataxia - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254346 Label: 19p13.12 microdeletion syndrome - '19p13.12 microdeletion syndrome' SubClassOf 'malformation syndrome' - '19p13.12 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 19' - '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '19p13.12 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '19p13.12 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '19p13.12 microdeletion syndrome' SubClassOf 'malformation syndrome' + '19p13.12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 19' + '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '19p13.12 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '19p13.12 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_34533 Label: Corneal dystrophy - 'Corneal dystrophy' SubClassOf 'group of disorders' + 'Corneal dystrophy' SubClassOf 'group of disorders' + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Corneal dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Corneal dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "110.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_325620 Label: Disorder of sex development of gynecological interest - 'Disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180261 Label: Phyllode tumor - 'Phyllode tumor' SubClassOf 'disease' - 'Phyllode tumor' SubClassOf 'part_of' some 'Rare benign breast tumor' - 'Phyllode tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Phyllode tumor' SubClassOf 'disease' + 'Phyllode tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare benign breast tumor' + 'Phyllode tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_239001 Label: interphotoreceptor matrix proteoglycan 2 - 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'gene' - 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'interphotoreceptor matrix proteoglycan 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'interphotoreceptor matrix proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interphotoreceptor matrix proteoglycan 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q12.2-q12.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1375 Label: Cataract - hypertrichosis - intellectual disability - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Hypertrichosis' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'malformation syndrome' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'part_of' some 'Syndromic cataract' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'malformation syndrome' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - hypertrichosis - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180257 Label: Rare malignant breast tumor - 'Rare malignant breast tumor' SubClassOf 'group of disorders' + 'Rare malignant breast tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404437 Label: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'malformation syndrome' - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'malformation syndrome' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1373 Label: Cataract - aberrant oral frenula - growth delay - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'malformation syndrome' - 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'malformation syndrome' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_34528 Label: Autosomal dominant primary hypomagnesemia with hypocalciuria - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypocalcuria' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'disease' - 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypocalcuria' + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_156215 Label: Oromandibular-limb anomalies syndrome - 'Oromandibular-limb anomalies syndrome' SubClassOf 'group of disorders' + 'Oromandibular-limb anomalies syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label: Familial primary hypomagnesemia with normocalcuria and normocalcemia - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with normocalcuria' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with normocalcuria' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_156212 Label: Hypoglossia/aglossia - 'Hypoglossia/aglossia' SubClassOf 'group of disorders' + 'Hypoglossia/aglossia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_254334 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'part_of' some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1376 Label: Congenital cataract - ichthyosis - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'Congenital cataract - ichthyosis' SubClassOf 'disease' - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Congenital cataract - ichthyosis' SubClassOf 'part_of' some 'Dentocutaneous disease with cataract' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'Congenital cataract - ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dentocutaneous disease with cataract' + 'Congenital cataract - ichthyosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320535 Label: EPS8-like 3 - 'EPS8-like 3' SubClassOf 'gene' - 'EPS8-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' + 'EPS8-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EPS8-like 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marie Unna hereditary hypotrichosis' + 'EPS8-like 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1377 Label: Cataract-microcornea syndrome - 'Cataract-microcornea syndrome' SubClassOf 'malformation syndrome' - 'Cataract-microcornea syndrome' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Cataract-microcornea syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract-microcornea syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract-microcornea syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' + 'Cataract-microcornea syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract-microcornea syndrome' SubClassOf 'malformation syndrome' + 'Cataract-microcornea syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract-microcornea syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cataract-microcornea syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_324625 Label: Chikungunya - 'Chikungunya' SubClassOf 'disease' - 'Chikungunya' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chikungunya' SubClassOf 'has_prevalence' some 'Unknown' - 'Chikungunya' SubClassOf 'part_of' some 'Arbovirus fever' + 'Chikungunya' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Chikungunya' SubClassOf 'disease' + 'Chikungunya' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arbovirus fever' + 'Chikungunya' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_251328 Label: Unclassified vasculitis - 'Unclassified vasculitis' SubClassOf 'group of disorders' + 'Unclassified vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325632 Label: 46,XY disorder of sex development of gynecological interest - '46,XY disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + '46,XY disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280365 Label: Autosomal codominant severe lipodystrophic laminopathy - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'disease' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168629 Label: Autosomal thrombocytopenia with normal platelets - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'part_of' some 'Hereditary thrombocytopenia with normal platelets' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'etiological subtype' + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_325638 Label: Syndrome with disorder of sex development of gynecological interest - 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_280360 Label: perilipin 1 - 'perilipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PLIN1 mutations' - 'perilipin 1' SubClassOf 'gene' + 'perilipin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial partial lipodystrophy associated with PLIN1 mutations' + 'perilipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26"^^http://www.w3.org/2001/XMLSchema#string + 'perilipin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1388 Label: Catel-Manzke syndrome - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Catel-Manzke syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Catel-Manzke syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Catel-Manzke syndrome' SubClassOf 'malformation syndrome' - 'Catel-Manzke syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Catel-Manzke syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Catel-Manzke syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Catel-Manzke syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Catel-Manzke syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Catel-Manzke syndrome' SubClassOf 'malformation syndrome' + 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1387 Label: Cataract - intellectual disability - hypogonadism - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'malformation syndrome' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - intellectual disability - hypogonadism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'malformation syndrome' + 'Cataract - intellectual disability - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - intellectual disability - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_168632 Label: Generalized basaloid follicular hamartoma syndrome - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'disease' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1389 Label: Cortical blindness - intellectual disability - polydactyly - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'malformation syndrome' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'malformation syndrome' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280356 Label: Familial partial lipodystrophy associated with PLIN1 mutations - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'disease' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180208 Label: Anomaly of puberty or/and menstrual cycle - 'Anomaly of puberty or/and menstrual cycle' SubClassOf 'group of disorders' + 'Anomaly of puberty or/and menstrual cycle' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404466 Label: Female infertility due to zona pellucida defect - 'Female infertility due to zona pellucida defect' SubClassOf 'disease' - 'Female infertility due to zona pellucida defect' SubClassOf 'part_of' some 'Female infertility due to fertilization defect' + 'Female infertility due to zona pellucida defect' SubClassOf 'disease' + 'Female infertility due to zona pellucida defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to fertilization defect' Class: http://www.orpha.net/ORDO/Orphanet_1380 Label: Cataract - nephropathy - encephalopathy - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'malformation syndrome' - 'Cataract - nephropathy - encephalopathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - nephropathy - encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - nephropathy - encephalopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_180205 Label: Rare non-malformative uterovaginal or vulvovaginal disease - 'Rare non-malformative uterovaginal or vulvovaginal disease' SubClassOf 'group of disorders' + 'Rare non-malformative uterovaginal or vulvovaginal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404463 Label: Multisystemic smooth muscle dysfunction syndrome - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_1381 Label: Cataract - intellectual disability - anal atresia - urinary defects - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'malformation syndrome' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'malformation syndrome' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_404469 Label: Female infertility due to fertilization defect - 'Female infertility due to fertilization defect' SubClassOf 'group of disorders' + 'Female infertility due to fertilization defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1383 Label: Cataract - deafness - hypogonadism - 'Cataract - deafness - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cataract - deafness - hypogonadism' SubClassOf 'malformation syndrome' - 'Cataract - deafness - hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cataract - deafness - hypogonadism' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cataract - deafness - hypogonadism' SubClassOf 'malformation syndrome' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cataract - deafness - hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cataract - deafness - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_180202 Label: Rare non-malformative breast disease - 'Rare non-malformative breast disease' SubClassOf 'group of disorders' + 'Rare non-malformative breast disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228190 Label: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'malformation syndrome' - 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'malformation syndrome' + 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251332 Label: Unexplained long-lasting fever/inflammatory syndrome - 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'group of disorders' + 'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_324636 Label: Autoerythrocyte sensitization syndrome - 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'part_of' some 'Autoimmune disease with skin involvement' - 'Autoerythrocyte sensitization syndrome' SubClassOf 'disease' + 'Autoerythrocyte sensitization syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autoerythrocyte sensitization syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune disease with skin involvement' + 'Autoerythrocyte sensitization syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98805 Label: Primary dystonia, DYT4 type - 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Primary dystonia, DYT4 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Primary dystonia, DYT4 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT4 type' SubClassOf 'disease' - 'Primary dystonia, DYT4 type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Primary dystonia, DYT4 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' + 'Primary dystonia, DYT4 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT4 type' SubClassOf 'disease' + 'Primary dystonia, DYT4 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary dystonia, DYT4 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_251316 Label: Unclassified overlapping connective tissue disease - 'Unclassified overlapping connective tissue disease' SubClassOf 'disease' - 'Unclassified overlapping connective tissue disease' SubClassOf 'part_of' some 'Overlapping connective tissue disease' + 'Unclassified overlapping connective tissue disease' SubClassOf 'disease' + 'Unclassified overlapping connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overlapping connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_98807 Label: Primary dystonia, DYT13 type - 'Primary dystonia, DYT13 type' SubClassOf 'part_of' some 'Focal, segmental or multifocal dystonia' - 'Primary dystonia, DYT13 type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary dystonia, DYT13 type' SubClassOf 'disease' - 'Primary dystonia, DYT13 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT13 type' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary dystonia, DYT13 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT13 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT13 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary dystonia, DYT13 type' SubClassOf 'disease' + 'Primary dystonia, DYT13 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal, segmental or multifocal dystonia' Class: http://www.orpha.net/ORDO/Orphanet_98806 Label: Primary dystonia, DYT6 type - 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Primary dystonia, DYT6 type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary dystonia, DYT6 type' SubClassOf 'part_of' some 'Generalized isolated dystonia' - 'Primary dystonia, DYT6 type' SubClassOf 'disease' - 'Primary dystonia, DYT6 type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Primary dystonia, DYT6 type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary dystonia, DYT6 type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Primary dystonia, DYT6 type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary dystonia, DYT6 type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Generalized isolated dystonia' + 'Primary dystonia, DYT6 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404451 Label: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'malformation syndrome' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98809 Label: Paroxysmal kinesigenic dyskinesia - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'sporadic' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98808 Label: Autosomal dominant dopa-responsive dystonia - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'part_of' some 'Disorder of pterin metabolism' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'part_of' some 'Dopa-responsive dystonia' - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pterin metabolism' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Autosomal dominant dopa-responsive dystonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dopa-responsive dystonia' Class: http://www.orpha.net/ORDO/Orphanet_324632 Label: Hendra virus infection - 'Hendra virus infection' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Hendra virus infection' SubClassOf 'disease' - 'Hendra virus infection' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hendra virus infection' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hendra virus infection' SubClassOf 'disease' + 'Hendra virus infection' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hendra virus infection' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious encephalitis' + 'Hendra virus infection' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_376502 Label: F-box and leucine-rich repeat protein 4 - 'F-box and leucine-rich repeat protein 4' SubClassOf 'gene' - 'F-box and leucine-rich repeat protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q16.1-q16.3"^^http://www.w3.org/2001/XMLSchema#string + 'F-box and leucine-rich repeat protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_50943 Label: Keratolytic winter erythema - 'Keratolytic winter erythema' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Keratolytic winter erythema' SubClassOf 'disease' - 'Keratolytic winter erythema' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Keratolytic winter erythema' SubClassOf 'disease' + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' Class: http://www.orpha.net/ORDO/Orphanet_168621 Label: Dysplasia of head of femur, Meyer type - 'Dysplasia of head of femur, Meyer type' SubClassOf 'disease' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_prevalence' some 'Unknown' + 'Dysplasia of head of femur, Meyer type' SubClassOf 'disease' + 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dysplasia of head of femur, Meyer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dysplasia of head of femur, Meyer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' Class: http://www.orpha.net/ORDO/Orphanet_50944 Label: Sch�pf-Schulz-Passarge syndrome - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_50945 Label: Chondrodysplasia, Blomstrand type - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'malformation syndrome' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Chondrodysplasia, Blomstrand type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chondrodysplasia, Blomstrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Chondrodysplasia, Blomstrand type' SubClassOf 'malformation syndrome' + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Chondrodysplasia, Blomstrand type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1399 Label: Richards-Rundle syndrome - 'Richards-Rundle syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Richards-Rundle syndrome' SubClassOf 'malformation syndrome' - 'Richards-Rundle syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Richards-Rundle syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Richards-Rundle syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Richards-Rundle syndrome' SubClassOf 'malformation syndrome' + 'Richards-Rundle syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Richards-Rundle syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_1398 Label: Isolated cerebellar hypoplasia/agenesis - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'part_of' some 'Global cerebellar malformation' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'morphological anomaly' + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Global cerebellar malformation' + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated cerebellar hypoplasia/agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280347 Label: dystroglycan 1 (dystrophin-associated glycoprotein 1) - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2P' - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' - 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'gene' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy type 2P' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' + 'dystroglycan 1 (dystrophin-associated glycoprotein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_168624 Label: Familial scaphocephaly syndrome, McGillivray type - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'malformation syndrome' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'malformation syndrome' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_50942 Label: Keratosis palmoplantaris striata - 'Keratosis palmoplantaris striata' SubClassOf 'disease' - 'Keratosis palmoplantaris striata' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' - 'Keratosis palmoplantaris striata' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Keratosis palmoplantaris striata' SubClassOf 'disease' + 'Keratosis palmoplantaris striata' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis palmoplantaris striata' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated focal palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_1393 Label: Cerebro-costo-mandibular syndrome - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Cerebro-costo-mandibular syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebro-costo-mandibular syndrome' SubClassOf 'malformation syndrome' + 'Cerebro-costo-mandibular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Cerebro-costo-mandibular syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404454 Label: Alacrimia-choreoathetosis-liver dysfunction syndrome - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1390 Label: Night blindness - skeletal anomalies - dysmorphism - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'malformation syndrome' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'malformation syndrome' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_251325 Label: Drug-induced vasculitis - 'Drug-induced vasculitis' SubClassOf 'group of disorders' + 'Drug-induced vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1397 Label: Cerebellum agenesis - hydrocephaly - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'malformation syndrome' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_prevalence' some 'Unknown' + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'malformation syndrome' + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebellum agenesis - hydrocephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Cerebellum agenesis - hydrocephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1396 Label: Cerebro-reno-digital syndrome - 'Cerebro-reno-digital syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-reno-digital syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Cerebro-reno-digital syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Cerebro-reno-digital syndrome' SubClassOf 'malformation syndrome' + 'Cerebro-reno-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Cerebro-reno-digital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_98810 Label: Paroxysmal non-kinesigenic dyskinesia - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'disease' - 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_1394 Label: Cerebro-facio-thoracic dysplasia - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'malformation syndrome' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'malformation syndrome' + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebro-facio-thoracic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_324648 Label: Invasive non-typhoidal salmonellosis - 'Invasive non-typhoidal salmonellosis' SubClassOf 'disease' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'part_of' some 'Rare form of salmonellosis' - 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Invasive non-typhoidal salmonellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare form of salmonellosis' + 'Invasive non-typhoidal salmonellosis' SubClassOf 'disease' + 'Invasive non-typhoidal salmonellosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404481 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180232 Label: spastic paraplegia 29 (autosomal dominant) - 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 29' - 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1-p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 29 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 29' Class: http://www.orpha.net/ORDO/Orphanet_280384 Label: Recessive intellectual disability - motor dysfunction - multiple joint contractures - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'disease' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'disease' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_168609 Label: Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'part_of' some 'Postlingual non-syndromic genetic deafness' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postlingual non-syndromic genetic deafness' + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_168606 Label: Seborrhea-like dermatitis with psoriasiform elements - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'disease' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'part_of' some 'Genetic epidermal disorder' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'part_of' some 'Other epidermal disorder' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'disease' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic epidermal disorder' + 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_168615 Label: Hereditary persistence of alpha-fetoprotein - 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'malformation syndrome' - 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'part_of' some 'Rare genetic disease' + 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'malformation syndrome' + 'Hereditary persistence of alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_280379 Label: Erythropoietic uroporphyria associated with myeloid malignancy - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'part_of' some 'Porphyria' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Porphyria' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_168612 Label: Congenital deficiency in alpha-fetoprotein - 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'morphological anomaly' - 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'part_of' some 'Rare genetic disease' + 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'morphological anomaly' + 'Congenital deficiency in alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic disease' Class: http://www.orpha.net/ORDO/Orphanet_180224 Label: spastic paraplegia 9 (autosomal dominant) - 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'gene' - 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 9' + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2-q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 9 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 9' Class: http://www.orpha.net/ORDO/Orphanet_180229 Label: Polyembryoma - 'Polyembryoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' - 'Polyembryoma' SubClassOf 'disease' + 'Polyembryoma' SubClassOf 'disease' + 'Polyembryoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_267088 Label: Rho GTPase activating protein 31 - 'Rho GTPase activating protein 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' - 'Rho GTPase activating protein 31' SubClassOf 'gene' + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'Rho GTPase activating protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Adams-Oliver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251355 Label: Sickle cell disease associated with an other hemoglobin anomaly - 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'group of disorders' + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180226 Label: Embryonal carcinoma - 'Embryonal carcinoma' SubClassOf 'disease' - 'Embryonal carcinoma' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' + 'Embryonal carcinoma' SubClassOf 'disease' + 'Embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_325665 Label: Genetic disorder of sex development of gynecological interest - 'Genetic disorder of sex development of gynecological interest' SubClassOf 'group of disorders' + 'Genetic disorder of sex development of gynecological interest' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label: Severe intellectual disability-progressive spastic diplegia syndrome - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'malformation syndrome' - 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'malformation syndrome' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180220 Label: Rare uterine adnexal tumor - 'Rare uterine adnexal tumor' SubClassOf 'group of disorders' + 'Rare uterine adnexal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_232035 Label: Infectious embryofetopathy - 'Infectious embryofetopathy' SubClassOf 'group of disorders' + 'Infectious embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_168601 Label: Congenital enteropathy due to enteropeptidase deficiency - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'part_of' some 'Congenital intestinal disease due to an enzymatic defect' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'disease' - 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal disease due to an enzymatic defect' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'disease' + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_180211 Label: reticulon 2 - 'reticulon 2' SubClassOf 'gene' - 'reticulon 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 12' + 'reticulon 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'reticulon 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'reticulon 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 12' Class: http://www.orpha.net/ORDO/Orphanet_180213 Label: spastic paraplegia 19 (autosomal dominant) - 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'gene' - 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 19' + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33-q34"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'spastic paraplegia 19 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 19' Class: http://www.orpha.net/ORDO/Orphanet_180215 Label: solute carrier family 33 (acetyl-CoA transporter), member 1 - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract-hearing loss-severe developmental delay syndrome' - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'gene' - 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 42' + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract-hearing loss-severe developmental delay syndrome' + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.31"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 33 (acetyl-CoA transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 42' Class: http://www.orpha.net/ORDO/Orphanet_404476 Label: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Rare renal tumor' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'malformation syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'malformation syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251347 Label: Ataxia-telangiectasia-like disorder - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'disease' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_prevalence' some 'Unknown' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia-telangiectasia-like disorder' SubClassOf 'part_of' some 'Skin vascular disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ataxia-telangiectasia-like disorder' SubClassOf 'disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ataxia-telangiectasia-like disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' + 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' Class: http://www.orpha.net/ORDO/Orphanet_122286 Label: G protein-coupled receptor kinase 1 - 'G protein-coupled receptor kinase 1' SubClassOf 'gene' - 'G protein-coupled receptor kinase 1' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' - 'G protein-coupled receptor kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' + 'G protein-coupled receptor kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor kinase 1' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' + 'G protein-coupled receptor kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oguchi disease' Class: http://www.orpha.net/ORDO/Orphanet_98841 Label: Anaplastic large cell lymphoma - 'Anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Anaplastic large cell lymphoma' SubClassOf 'disease' - 'Anaplastic large cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Anaplastic large cell lymphoma' SubClassOf 'disease' + 'Anaplastic large cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122282 Label: glutamate receptor, ionotropic, AMPA 3 - 'glutamate receptor, ionotropic, AMPA 3' SubClassOf 'gene' - 'glutamate receptor, ionotropic, AMPA 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability due to GRIA3 anomalies' + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked intellectual disability due to GRIA3 anomalies' + 'glutamate receptor, ionotropic, AMPA 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98843 Label: Nodular sclerosis classical Hodgkin lymphoma - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' - 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Nodular sclerosis classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98842 Label: Lymphomatoid papulosis - 'Lymphomatoid papulosis' SubClassOf 'part_of' some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' - 'Lymphomatoid papulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphomatoid papulosis' SubClassOf 'disease' + 'Lymphomatoid papulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary cutaneous CD30+ T-cell lymphoproliferative disease' + 'Lymphomatoid papulosis' SubClassOf 'disease' + 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_352728 Label: Disorder of melanin metabolism - 'Disorder of melanin metabolism' SubClassOf 'group of disorders' + 'Disorder of melanin metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157713 Label: Congenital or early infantile CACH syndrome - 'Congenital or early infantile CACH syndrome' SubClassOf 'clinical subtype' - 'Congenital or early infantile CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Congenital or early infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' + 'Congenital or early infantile CACH syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159507 Label: grainyhead-like 2 (Drosophila) - 'grainyhead-like 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'grainyhead-like 2 (Drosophila)' SubClassOf 'gene' + 'grainyhead-like 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'grainyhead-like 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'grainyhead-like 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138059 Label: Teratogenic Pierre Robin syndrome - 'Teratogenic Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Teratogenic Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159501 Label: nonhomologous end-joining factor 1 - 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' - 'nonhomologous end-joining factor 1' SubClassOf 'gene' - 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cernunnos-XLF deficiency' + 'nonhomologous end-joining factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral generalized polymicrogyria' + 'nonhomologous end-joining factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'nonhomologous end-joining factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cernunnos-XLF deficiency' Class: http://www.orpha.net/ORDO/Orphanet_138055 Label: Pierre Robin syndrome associated with bone disease - 'Pierre Robin syndrome associated with bone disease' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138050 Label: Pierre Robin syndrome associated with branchial archs anomalies - 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228157 Label: Marburg acute multiple sclerosis - 'Marburg acute multiple sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Marburg acute multiple sclerosis' SubClassOf 'disease' - 'Marburg acute multiple sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Marburg acute multiple sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Marburg acute multiple sclerosis' SubClassOf 'part_of' some 'Multiple sclerosis variant' + 'Marburg acute multiple sclerosis' SubClassOf 'disease' + 'Marburg acute multiple sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Marburg acute multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Marburg acute multiple sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98833 Label: Acute myeloblastic leukemia without maturation - 'Acute myeloblastic leukemia without maturation' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute myeloblastic leukemia without maturation' SubClassOf 'disease' - 'Acute myeloblastic leukemia without maturation' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia without maturation' SubClassOf 'disease' + 'Acute myeloblastic leukemia without maturation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia without maturation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_325673 Label: spastic paraplegia 36 (autosomal dominant) - 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 36' - 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 36' + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 36 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_98834 Label: Acute myeloblastic leukemia with maturation - 'Acute myeloblastic leukemia with maturation' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute myeloblastic leukemia with maturation' SubClassOf 'disease' - 'Acute myeloblastic leukemia with maturation' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia with maturation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute myeloblastic leukemia with maturation' SubClassOf 'disease' + 'Acute myeloblastic leukemia with maturation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_98835 Label: Acute undifferentiated leukemia - 'Acute undifferentiated leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' - 'Acute undifferentiated leukemia' SubClassOf 'disease' + 'Acute undifferentiated leukemia' SubClassOf 'disease' + 'Acute undifferentiated leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_325671 Label: spastic paraplegia 41 (autosomal dominant) - 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 41' - 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'gene' + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 41' + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.1-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'spastic paraplegia 41 (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_98836 Label: Bilineal acute leukemia - 'Bilineal acute leukemia' SubClassOf 'disease' - 'Bilineal acute leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' + 'Bilineal acute leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' + 'Bilineal acute leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98837 Label: Acute biphenotypic leukemia - 'Acute biphenotypic leukemia' SubClassOf 'disease' - 'Acute biphenotypic leukemia' SubClassOf 'part_of' some 'Acute leukemia of ambiguous lineage' + 'Acute biphenotypic leukemia' SubClassOf 'disease' + 'Acute biphenotypic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute leukemia of ambiguous lineage' Class: http://www.orpha.net/ORDO/Orphanet_98838 Label: Primary mediastinal large B-cell lymphoma - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'disease' - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Primary mediastinal large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Primary mediastinal large B-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary mediastinal large B-cell lymphoma' SubClassOf 'disease' + 'Primary mediastinal large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_361372 Label: storkhead box 1 - 'storkhead box 1' SubClassOf 'Major susceptibility factor in' some 'Preeclampsia' - 'storkhead box 1' SubClassOf 'gene' + 'storkhead box 1' SubClassOf 'Major susceptibility factor in' some 'Preeclampsia' + 'storkhead box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'storkhead box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352734 Label: Minimal pigment oculocutaneous albinism type 1 - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98839 Label: Intravascular large B-cell lymphoma - 'Intravascular large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' - 'Intravascular large B-cell lymphoma' SubClassOf 'disease' + 'Intravascular large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' + 'Intravascular large B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352731 Label: Oculocutaneous albinism type 1 - 'Oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 1' SubClassOf 'disease' - 'Oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 1' SubClassOf 'disease' + 'Oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_98850 Label: Aggressive systemic mastocytosis - 'Aggressive systemic mastocytosis' SubClassOf 'disease' - 'Aggressive systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aggressive systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Aggressive systemic mastocytosis' SubClassOf 'part_of' some 'Systemic mastocytosis' - 'Aggressive systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Aggressive systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Aggressive systemic mastocytosis' SubClassOf 'disease' + 'Aggressive systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aggressive systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Aggressive systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_404499 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122296 Label: gelsolin - 'gelsolin' SubClassOf 'gene' - 'gelsolin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloidosis, Finnish type' + 'gelsolin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q33"^^http://www.w3.org/2001/XMLSchema#string + 'gelsolin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial amyloidosis, Finnish type' + 'gelsolin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122298 Label: glutathione reductase - 'glutathione reductase' SubClassOf 'gene' - 'glutathione reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glutathione reductase deficiency' + 'glutathione reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glutathione reductase deficiency' + 'glutathione reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutathione reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_352718 Label: Progressive retinal dystrophy due to retinol transport defect - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of other vitamins and cofactors metabolism and transport' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_122291 Label: glutamate receptor, metabotropic 6 - 'glutamate receptor, metabotropic 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'glutamate receptor, metabotropic 6' SubClassOf 'gene' + 'glutamate receptor, metabotropic 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'glutamate receptor, metabotropic 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate receptor, metabotropic 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98853 Label: Autosomal dominant Emery-Dreifuss muscular dystrophy - 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' - 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' + 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254395 Label: Actinic lichen planus - 'Actinic lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' - 'Actinic lichen planus' SubClassOf 'disease' - 'Actinic lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Actinic lichen planus' SubClassOf 'has_prevalence' some 'Unknown' + 'Actinic lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Actinic lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' + 'Actinic lichen planus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98852 Label: Desquamative interstitial pneumonia - 'Desquamative interstitial pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Desquamative interstitial pneumonia' SubClassOf 'disease' + 'Desquamative interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Desquamative interstitial pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98851 Label: Mast cell leukemia - 'Mast cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mast cell leukemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mast cell leukemia' SubClassOf 'group of disorders' - 'Mast cell leukemia' SubClassOf 'has_inheritance' some 'sporadic' + 'Mast cell leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mast cell leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mast cell leukemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mast cell leukemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138047 Label: Pierre Robin syndrome associated with a chromosomal anomaly - 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138044 Label: Syndromic Pierre Robin syndrome - 'Syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Syndromic Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228165 Label: Bal� concentric sclerosis - 'Bal� concentric sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Bal� concentric sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Bal� concentric sclerosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Bal� concentric sclerosis' SubClassOf 'part_of' some 'Multiple sclerosis variant' - 'Bal� concentric sclerosis' SubClassOf 'disease' + 'Bal� concentric sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Bal� concentric sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Bal� concentric sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple sclerosis variant' + 'Bal� concentric sclerosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228169 Label: Autosomal dominant striatal neurodegeneration - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Autosomal dominant striatal neurodegeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant striatal neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_138041 Label: Pierre Robin syndrome associated with collagen disease - 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_157719 Label: Juvenile or adult CACH syndrome - 'Juvenile or adult CACH syndrome' SubClassOf 'clinical subtype' - 'Juvenile or adult CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Juvenile or adult CACH syndrome' SubClassOf 'clinical subtype' + 'Juvenile or adult CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157716 Label: Late infantile CACH syndrome - 'Late infantile CACH syndrome' SubClassOf 'clinical subtype' - 'Late infantile CACH syndrome' SubClassOf 'part_of' some 'CACH syndrome' + 'Late infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CACH syndrome' + 'Late infantile CACH syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98846 Label: Lymphocyte-depleted classical Hodgkin lymphoma - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphocyte-depleted classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98844 Label: Mixed cellularity classical Hodgkin lymphoma - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Mixed cellularity classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98845 Label: Lymphocyte-rich classical Hodgkin lymphoma - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma, classical' - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf 'histopathological subtype' + 'Lymphocyte-rich classical Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma, classical' Class: http://www.orpha.net/ORDO/Orphanet_98848 Label: Indolent systemic mastocytosis - 'Indolent systemic mastocytosis' SubClassOf 'disease' - 'Indolent systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Indolent systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Indolent systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Indolent systemic mastocytosis' SubClassOf 'part_of' some 'Systemic mastocytosis' + 'Indolent systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Indolent systemic mastocytosis' SubClassOf 'disease' + 'Indolent systemic mastocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Indolent systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Indolent systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_404493 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98849 Label: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'part_of' some 'Systemic mastocytosis' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'disease' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic mastocytosis' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'disease' + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_352723 Label: Attenuated Ch�diak-Higashi syndrome - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'disease' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary disease with peripheral neuropathy' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'disease' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_325690 Label: Genetic disorder of sex development - 'Genetic disorder of sex development' SubClassOf 'group of disorders' + 'Genetic disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183616 Label: Genetic neuro-ophthalmological disease - 'Genetic neuro-ophthalmological disease' SubClassOf 'group of disorders' + 'Genetic neuro-ophthalmological disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98820 Label: Familial focal epilepsy with variable foci - 'Familial focal epilepsy with variable foci' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Familial focal epilepsy with variable foci' SubClassOf 'disease' - 'Familial focal epilepsy with variable foci' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial focal epilepsy with variable foci' SubClassOf 'disease' + 'Familial focal epilepsy with variable foci' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Familial focal epilepsy with variable foci' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159521 Label: major facilitator superfamily domain containing 8 - 'major facilitator superfamily domain containing 8' SubClassOf 'gene' - 'major facilitator superfamily domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN7 disease' + 'major facilitator superfamily domain containing 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN7 disease' + 'major facilitator superfamily domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28.2"^^http://www.w3.org/2001/XMLSchema#string + 'major facilitator superfamily domain containing 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122263 Label: G protein-coupled receptor 143 - 'G protein-coupled receptor 143' SubClassOf 'gene' - 'G protein-coupled receptor 143' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive ocular albinism' + 'G protein-coupled receptor 143' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.3"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor 143' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 143' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive ocular albinism' Class: http://www.orpha.net/ORDO/Orphanet_228174 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2N - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_122266 Label: G protein-coupled receptor 56 - 'G protein-coupled receptor 56' SubClassOf 'gene' - 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral frontoparietal polymicrogyria' - 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral frontoparietal polymicrogyria' + 'G protein-coupled receptor 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159526 Label: dihydrofolate reductase - 'dihydrofolate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional megaloblastic anemia with severe neurologic disease' - 'dihydrofolate reductase' SubClassOf 'gene' + 'dihydrofolate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Constitutional megaloblastic anemia with severe neurologic disease' + 'dihydrofolate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'dihydrofolate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159528 Label: ATP-binding cassette, sub-family A (ABC1), member 1 - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'gene' - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' - 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tangier disease' + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Apolipoprotein A-I deficiency' + 'ATP-binding cassette, sub-family A (ABC1), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tangier disease' Class: http://www.orpha.net/ORDO/Orphanet_183619 Label: Genetic eye tumor - 'Genetic eye tumor' SubClassOf 'group of disorders' + 'Genetic eye tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281472 Label: v-akt murine thymoma viral oncogene homolog 1 - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Proteus syndrome' - 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'gene' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Proteus syndrome' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Cowden syndrome' + 'v-akt murine thymoma viral oncogene homolog 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98819 Label: Familial temporal epilepsy - 'Familial temporal epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Familial temporal epilepsy' SubClassOf 'disease' + 'Familial temporal epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Familial temporal epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_326747 Label: splicing factor proline/glutamine-rich - 'splicing factor proline/glutamine-rich' SubClassOf 'gene' - 'splicing factor proline/glutamine-rich' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'splicing factor proline/glutamine-rich' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'splicing factor proline/glutamine-rich' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'splicing factor proline/glutamine-rich' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_228179 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2M - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98815 Label: Benign childhood occipital epilepsy, Panayiotopoulos type - 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'clinical subtype' - 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'part_of' some 'Benign occipital epilepsy' + 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_98816 Label: Benign childhood occipital epilepsy, Gastaut type - 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'part_of' some 'Benign occipital epilepsy' - 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'clinical subtype' + 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign occipital epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_326742 Label: clathrin, heavy chain (Hc) - 'clathrin, heavy chain (Hc)' SubClassOf 'gene' - 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'clathrin, heavy chain (Hc)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'clathrin, heavy chain (Hc)' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'clathrin, heavy chain (Hc)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325697 Label: Genetic 46,XX disorder of sex development - 'Genetic 46,XX disorder of sex development' SubClassOf 'group of disorders' + 'Genetic 46,XX disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98818 Label: Landau-Kleffner syndrome - 'Landau-Kleffner syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Landau-Kleffner syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Landau-Kleffner syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Landau-Kleffner syndrome' SubClassOf 'disease' - 'Landau-Kleffner syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Landau-Kleffner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Landau-Kleffner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Landau-Kleffner syndrome' SubClassOf 'disease' + 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Landau-Kleffner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_98811 Label: Paroxysmal exertion-induced dyskinesia - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'disease' + 'Paroxysmal exertion-induced dyskinesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'disease' + 'Paroxysmal exertion-induced dyskinesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_98813 Label: Hypohidrotic ectodermal dysplasia with immunodeficiency - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'clinical subtype' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'part_of' some 'Hypohidrotic ectodermal dysplasia' - 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypohidrotic ectodermal dysplasia' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'clinical subtype' + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_98832 Label: Minimally differentiated acute myeloblastic leukemia - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'disease' + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'disease' + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Minimally differentiated acute myeloblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_98831 Label: Acute myeloid leukemia with 11q23 abnormalities - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' - 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'disease' + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with 11q23 abnormalities' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122270 Label: G protein-coupled receptor 98 - 'G protein-coupled receptor 98' SubClassOf 'gene' - 'G protein-coupled receptor 98' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'G protein-coupled receptor 98' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'G protein-coupled receptor 98' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13"^^http://www.w3.org/2001/XMLSchema#string + 'G protein-coupled receptor 98' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_397692 Label: Hereditary aplastic anemia - 'Hereditary aplastic anemia' SubClassOf 'disease' - 'Hereditary aplastic anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' + 'Hereditary aplastic anemia' SubClassOf 'disease' + 'Hereditary aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_165711 Label: Rare abdominal surgical disease - 'Rare abdominal surgical disease' SubClassOf 'group of disorders' + 'Rare abdominal surgical disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183601 Label: Rare genetic refraction anomaly - 'Rare genetic refraction anomaly' SubClassOf 'group of disorders' + 'Rare genetic refraction anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352737 Label: Temperature-sensitive oculocutaneous albinism type 1 - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'part_of' some 'Oculocutaneous albinism type 1' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism type 1' Class: http://www.orpha.net/ORDO/Orphanet_159514 Label: family with sequence similarity 58, member A - 'family with sequence similarity 58, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly - telecanthus - anogenital and renal malformations' - 'family with sequence similarity 58, member A' SubClassOf 'gene' + 'family with sequence similarity 58, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'family with sequence similarity 58, member A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Syndactyly - telecanthus - anogenital and renal malformations' + 'family with sequence similarity 58, member A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_138066 Label: Pierre Robin syndrome associated with miscellaneous anomalies - 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'group of disorders' + 'Pierre Robin syndrome associated with miscellaneous anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281457 Label: interleukin 36 receptor antagonist - 'interleukin 36 receptor antagonist' SubClassOf 'gene' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' - 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pustular psoriasis' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'DITRA' + 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 36 receptor antagonist' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' + 'interleukin 36 receptor antagonist' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Generalized pustular psoriasis' Class: http://www.orpha.net/ORDO/Orphanet_122278 Label: glyoxylate reductase/hydroxypyruvate reductase - 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'gene' - 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 2' + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q12"^^http://www.w3.org/2001/XMLSchema#string + 'glyoxylate reductase/hydroxypyruvate reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 2' Class: http://www.orpha.net/ORDO/Orphanet_392330 Label: armadillo repeat containing 5 - 'armadillo repeat containing 5' SubClassOf 'gene' - 'armadillo repeat containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'ACTH-independent macronodular adrenal hyperplasia' + 'armadillo repeat containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11"^^http://www.w3.org/2001/XMLSchema#string + 'armadillo repeat containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'armadillo repeat containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'ACTH-independent macronodular adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_228184 Label: Heart-hand syndrome - 'Heart-hand syndrome' SubClassOf 'group of disorders' + 'Heart-hand syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183607 Label: Genetic lens and zonula anomaly - 'Genetic lens and zonula anomaly' SubClassOf 'group of disorders' + 'Genetic lens and zonula anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397695 Label: 3q27.3 microdeletion syndrome - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - '3q27.3 microdeletion syndrome' SubClassOf 'disease' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf 'disease' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_159517 Label: transmembrane protein 43 - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' - 'transmembrane protein 43' SubClassOf 'gene' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 43' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_217124 Label: peptidylprolyl isomerase B (cyclophilin B) - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' - 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'gene' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'peptidylprolyl isomerase B (cyclophilin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 2' Class: http://www.orpha.net/ORDO/Orphanet_138063 Label: Syndrome associated with Pierre Robin syndrome - 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'group of disorders' + 'Syndrome associated with Pierre Robin syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98829 Label: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'disease' - 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf 'disease' + 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98826 Label: Refractory anemia - 'Refractory anemia' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Refractory anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia' SubClassOf 'disease' + 'Refractory anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory cytopenia with multilineage dysplasia' + 'Refractory anemia' SubClassOf 'disease' + 'Refractory anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_98827 Label: Unclassified myelodysplastic syndrome - 'Unclassified myelodysplastic syndrome' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Unclassified myelodysplastic syndrome' SubClassOf 'disease' + 'Unclassified myelodysplastic syndrome' SubClassOf 'disease' + 'Unclassified myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory cytopenia with multilineage dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_352745 Label: Oculocutaneous albinism type 7 - 'Oculocutaneous albinism type 7' SubClassOf 'part_of' some 'Oculocutaneous albinism' - 'Oculocutaneous albinism type 7' SubClassOf 'disease' - 'Oculocutaneous albinism type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Oculocutaneous albinism type 7' SubClassOf 'disease' + 'Oculocutaneous albinism type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculocutaneous albinism type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculocutaneous albinism' + 'Oculocutaneous albinism type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_165704 Label: Non-syndromic urogenital tract malformation - 'Non-syndromic urogenital tract malformation' SubClassOf 'group of disorders' + 'Non-syndromic urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98824 Label: Atypical chronic myeloid leukemia - 'Atypical chronic myeloid leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Atypical chronic myeloid leukemia' SubClassOf 'disease' - 'Atypical chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Atypical chronic myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Atypical chronic myeloid leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Atypical chronic myeloid leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_165707 Label: Syndromic urogenital tract malformation - 'Syndromic urogenital tract malformation' SubClassOf 'group of disorders' + 'Syndromic urogenital tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98825 Label: Unclassified myelodysplastic/myeloproliferative disease - 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'disease' + 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Unclassified myelodysplastic/myeloproliferative disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_326751 Label: non-POU domain containing, octamer-binding - 'non-POU domain containing, octamer-binding' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'non-POU domain containing, octamer-binding' SubClassOf 'gene' + 'non-POU domain containing, octamer-binding' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'non-POU domain containing, octamer-binding' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq13.1"^^http://www.w3.org/2001/XMLSchema#string + 'non-POU domain containing, octamer-binding' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_352740 Label: Ocular albinism with congenital sensorineural deafness - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'part_of' some 'Ocular albinism' - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ocular albinism with congenital sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98823 Label: Chronic myelomonocytic leukemia - 'Chronic myelomonocytic leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Chronic myelomonocytic leukemia' SubClassOf 'disease' - 'Chronic myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Chronic myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Chronic myelomonocytic leukemia' SubClassOf 'disease' + 'Chronic myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_397685 Label: Familial hyperprolactinemia - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare genetic hypothalamic or pituitary disease' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' - 'Familial hyperprolactinemia' SubClassOf 'disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf 'disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_1302 Label: Cryptogenic organizing pneumonia - 'Cryptogenic organizing pneumonia' SubClassOf 'has_inheritance' some 'sporadic' - 'Cryptogenic organizing pneumonia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Cryptogenic organizing pneumonia' SubClassOf 'part_of' some 'Idiopathic interstitial pneumonia' - 'Cryptogenic organizing pneumonia' SubClassOf 'disease' - 'Cryptogenic organizing pneumonia' SubClassOf 'has_prevalence' some 'Unknown' + 'Cryptogenic organizing pneumonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Cryptogenic organizing pneumonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic interstitial pneumonia' + 'Cryptogenic organizing pneumonia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryptogenic organizing pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_177904 Label: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254367 Label: Rare lichen planus - 'Rare lichen planus' SubClassOf 'group of disorders' + 'Rare lichen planus' SubClassOf 'group of disorders' + 'Rare lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1300 Label: Autosomal dominant popliteal pterygium syndrome - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'malformation syndrome' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Popliteal pterygium syndrome' - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Popliteal pterygium syndrome' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'malformation syndrome' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_177901 Label: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_122248 Label: glypican 3 - 'glypican 3' SubClassOf 'gene' - 'glypican 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome' + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Simpson-Golabi-Behmel syndrome' + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glypican 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363504 Label: Testicular germ cell tumor - 'Testicular germ cell tumor' SubClassOf 'group of disorders' + 'Testicular germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1306 Label: Buschke-Ollendorff syndrome - 'Buschke-Ollendorff syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Buschke-Ollendorff syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Buschke-Ollendorff syndrome' SubClassOf 'malformation syndrome' - 'Buschke-Ollendorff syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Buschke-Ollendorff syndrome' SubClassOf 'part_of' some 'Osteopetrosis' + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Buschke-Ollendorff syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Buschke-Ollendorff syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Buschke-Ollendorff syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_177907 Label: Prader-Willi syndrome due to translocation - 'Prader-Willi syndrome due to translocation' SubClassOf 'etiological subtype' - 'Prader-Willi syndrome due to translocation' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to translocation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to translocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1305 Label: Feingold syndrome - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic gastroduodenal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Feingold syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Feingold syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Feingold syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Feingold syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Feingold syndrome' SubClassOf 'malformation syndrome' - 'Feingold syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic gastroduodenal malformation' + 'Feingold syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Feingold syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Feingold syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Feingold syndrome' SubClassOf 'malformation syndrome' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_320542 Label: adaptor-related protein complex 2, sigma 1 subunit - 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 3' - 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypocalciuric hypercalcemia type 3' + 'adaptor-related protein complex 2, sigma 1 subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_292448 Label: WAS/WASL interacting protein family, member 1 - 'WAS/WASL interacting protein family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' - 'WAS/WASL interacting protein family, member 1' SubClassOf 'gene' + 'WAS/WASL interacting protein family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WAS/WASL interacting protein family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'WAS/WASL interacting protein family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1304 Label: Brucellosis - 'Brucellosis' SubClassOf 'disease' - 'Brucellosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Brucellosis' SubClassOf 'disease' + 'Brucellosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_2399 Label: Nasopalpebral lipoma - coloboma - telecanthus - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'malformation syndrome' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'part_of' some 'Syndromic palpebral coloboma' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic palpebral coloboma' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'malformation syndrome' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_159547 Label: UbiA prenyltransferase domain containing 1 - 'UbiA prenyltransferase domain containing 1' SubClassOf 'gene' - 'UbiA prenyltransferase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schnyder corneal dystrophy' + 'UbiA prenyltransferase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.22"^^http://www.w3.org/2001/XMLSchema#string + 'UbiA prenyltransferase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schnyder corneal dystrophy' + 'UbiA prenyltransferase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156224 Label: Paralytic facial malformation - 'Paralytic facial malformation' SubClassOf 'group of disorders' + 'Paralytic facial malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1303 Label: Bronchiolitis obliterans with obstructive pulmonary disease - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'disease' - 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Bronchiolitis obliterans with obstructive pulmonary disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122244 Label: glycoprotein IX (platelet) - 'glycoprotein IX (platelet)' SubClassOf 'gene' - 'glycoprotein IX (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein IX (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein IX (platelet)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein IX (platelet)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98880 Label: Familial afibrinogenemia - 'Familial afibrinogenemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Familial afibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial afibrinogenemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial afibrinogenemia' SubClassOf 'clinical subtype' + 'Familial afibrinogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial afibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' + 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial afibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial afibrinogenemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98881 Label: Familial dysfibrinogenemia - 'Familial dysfibrinogenemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial dysfibrinogenemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial dysfibrinogenemia' SubClassOf 'part_of' some 'Congenital fibrinogen deficiency' - 'Familial dysfibrinogenemia' SubClassOf 'clinical subtype' - 'Familial dysfibrinogenemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial dysfibrinogenemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial dysfibrinogenemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital fibrinogen deficiency' + 'Familial dysfibrinogenemia' SubClassOf 'clinical subtype' + 'Familial dysfibrinogenemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_183634 Label: Rare genetic parathyroid disease and phosphocalcic metabolism disorder - 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'group of disorders' + 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2398 Label: Familial symmetric lipomatosis - 'Familial symmetric lipomatosis' SubClassOf 'disease' - 'Familial symmetric lipomatosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial symmetric lipomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial symmetric lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Familial symmetric lipomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial symmetric lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Familial symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Familial symmetric lipomatosis' SubClassOf 'disease' + 'Familial symmetric lipomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial symmetric lipomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_122241 Label: glycoprotein Ib (platelet), beta polypeptide - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'gene' - 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.21-q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein Ib (platelet), beta polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_2396 Label: Encephalocraniocutaneous lipomatosis - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'disease' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Encephalocraniocutaneous lipomatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Subcutaneous tissue disease' + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'disease' + 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_98885 Label: Bleeding diathesis due to glycoprotein VI deficiency - 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'part_of' some 'Bleeding diathesis due to a collagen receptor defect' - 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'etiological subtype' + 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_217598 Label: Non-familial hypertrophic cardiomyopathy - 'Non-familial hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2394 Label: Pyruvate dehydrogenase E3 deficiency - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Pyruvate dehydrogenase deficiency' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lipoic acid biosynthesis defect' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyruvate dehydrogenase deficiency' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_98886 Label: Bleeding diathesis due to integrin alpha2-beta1 deficiency - 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'etiological subtype' - 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'part_of' some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bleeding diathesis due to a collagen receptor defect' + 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_183637 Label: Rare genetic adrenal disease - 'Rare genetic adrenal disease' SubClassOf 'group of disorders' + 'Rare genetic adrenal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217595 Label: Syndrome associated with hypertrophic cardiomyopathy - 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2391 Label: Congenitally short costocoracoid ligament - 'Congenitally short costocoracoid ligament' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenitally short costocoracoid ligament' SubClassOf 'malformation syndrome' - 'Congenitally short costocoracoid ligament' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenitally short costocoracoid ligament' SubClassOf 'part_of' some 'Thoracic malformation' + 'Congenitally short costocoracoid ligament' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenitally short costocoracoid ligament' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally short costocoracoid ligament' SubClassOf 'malformation syndrome' + 'Congenitally short costocoracoid ligament' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenitally short costocoracoid ligament' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254361 Label: Autosomal recessive limb-girdle muscular dystrophy type 2Q - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'part_of' some 'Qualitative or quantitative defects of plectin' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of plectin' + 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_98878 Label: Hemophilia A - 'Hemophilia A' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hemophilia A' SubClassOf 'part_of' some 'Hemophilia' - 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hemophilia A' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemophilia A' SubClassOf 'disease' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410092) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "19.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'disease' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410003) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410164) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410128) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410230) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410199) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410141) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410106) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410026) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410011) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410190) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410045) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410081) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410138) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410162) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410104) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410120) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410101) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410200) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410114) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410040) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410057) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410015) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410161) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410151) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410216) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409996) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410136) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410171) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410048) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410054) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410174) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410019) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410166) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410113) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410153) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.025"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410122) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410020) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410150) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410134) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410125) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410146) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410089) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409995) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410115) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410231) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410008) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410227) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemophilia A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410187) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410055) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410165) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410119) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410056) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410212) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia' + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410096) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410228) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410013) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410059) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410004) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410007) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410238) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410094) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2390 Label: Lichstenstein syndrome - 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lichstenstein syndrome' SubClassOf 'disease' - 'Lichstenstein syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lichstenstein syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Lichstenstein syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lichstenstein syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lichstenstein syndrome' SubClassOf 'disease' + 'Lichstenstein syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lichstenstein syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lichstenstein syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_228119 Label: Fusariosis - 'Fusariosis' SubClassOf 'disease' - 'Fusariosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Fusariosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Fusariosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Fusariosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Fusariosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fusariosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fusariosis' SubClassOf 'disease' + 'Fusariosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_98879 Label: Hemophilia B - 'Hemophilia B' SubClassOf 'part_of' some 'Hemophilia' - 'Hemophilia B' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hemophilia B' SubClassOf 'disease' - 'Hemophilia B' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hemophilia B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia' + 'Hemophilia B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409983) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf 'disease' + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hemophilia B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_217591 Label: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376593 Label: paired box 1 - 'paired box 1' SubClassOf 'gene' - 'paired box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'paired box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'paired box 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'paired box 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_376599 Label: aarF domain containing kinase 4 - 'aarF domain containing kinase 4' SubClassOf 'gene' - 'aarF domain containing kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aarF domain containing kinase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' Class: http://www.orpha.net/ORDO/Orphanet_228113 Label: Anal fistula - 'Anal fistula' SubClassOf 'disease' - 'Anal fistula' SubClassOf 'part_of' some 'Isolated anorectal malformation' - 'Anal fistula' SubClassOf 'has_prevalence' some '1-5 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_228116 Label: Hughes-Stovin syndrome - 'Hughes-Stovin syndrome' SubClassOf 'part_of' some 'Predominantly large-vessel vasculitis' - 'Hughes-Stovin syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hughes-Stovin syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hughes-Stovin syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Hughes-Stovin syndrome' SubClassOf 'disease' + 'Hughes-Stovin syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hughes-Stovin syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Predominantly large-vessel vasculitis' + 'Hughes-Stovin syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hughes-Stovin syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hughes-Stovin syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_177910 Label: Prader-Willi syndrome due to imprinting mutation - 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'etiological subtype' - 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to imprinting mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_157769 Label: Situs ambiguus - 'Situs ambiguus' SubClassOf 'morphological anomaly' - 'Situs ambiguus' SubClassOf 'part_of' some 'Heterotaxia' - 'Situs ambiguus' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Situs ambiguus' SubClassOf 'morphological anomaly' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac anomaly' + 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heterotaxia' Class: http://www.orpha.net/ORDO/Orphanet_1310 Label: Caffey disease - 'Caffey disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Caffey disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Caffey disease' SubClassOf 'part_of' some 'Neonatal osteosclerotic dysplasia' - 'Caffey disease' SubClassOf 'malformation syndrome' - 'Caffey disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Caffey disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Caffey disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Caffey disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Caffey disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neonatal osteosclerotic dysplasia' + 'Caffey disease' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122259 Label: glucose-6-phosphate isomerase - 'glucose-6-phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glucophosphate isomerase deficiency' - 'glucose-6-phosphate isomerase' SubClassOf 'gene' + 'glucose-6-phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucose-6-phosphate isomerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to glucophosphate isomerase deficiency' + 'glucose-6-phosphate isomerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_159539 Label: coiled-coil and C2 domain containing 2A - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'coiled-coil and C2 domain containing 2A' SubClassOf 'gene' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' + 'coiled-coil and C2 domain containing 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'coiled-coil and C2 domain containing 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.33"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil and C2 domain containing 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_122256 Label: gephyrin - 'gephyrin' SubClassOf 'gene' - 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' - 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' + 'gephyrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'gephyrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'gephyrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98890 Label: Early-onset X-linked optic atrophy - 'Early-onset X-linked optic atrophy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Early-onset X-linked optic atrophy' SubClassOf 'disease' - 'Early-onset X-linked optic atrophy' SubClassOf 'part_of' some 'X-linked recessive optic atrophy' - 'Early-onset X-linked optic atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Early-onset X-linked optic atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Early-onset X-linked optic atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Early-onset X-linked optic atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked recessive optic atrophy' + 'Early-onset X-linked optic atrophy' SubClassOf 'disease' + 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1314 Label: Symmetrical thalamic calcifications - 'Symmetrical thalamic calcifications' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Symmetrical thalamic calcifications' SubClassOf 'has_inheritance' some 'sporadic' - 'Symmetrical thalamic calcifications' SubClassOf 'disease' - 'Symmetrical thalamic calcifications' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Symmetrical thalamic calcifications' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Symmetrical thalamic calcifications' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Symmetrical thalamic calcifications' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Symmetrical thalamic calcifications' SubClassOf 'disease' + 'Symmetrical thalamic calcifications' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Symmetrical thalamic calcifications' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_156237 Label: Syndrome or malformation associated with head and neck malformations - 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'group of disorders' + 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98893 Label: Congenital muscular dystrophy type 1B - 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital muscular dystrophy type 1B' SubClassOf 'disease' - 'Congenital muscular dystrophy type 1B' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy type 1B' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy type 1B' SubClassOf 'disease' + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy type 1B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_159533 Label: delta-like 1 homolog (Drosophila) - 'delta-like 1 homolog (Drosophila)' SubClassOf 'gene' - 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' - 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Maternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf 'Role in the phenotype of' some 'Paternal uniparental disomy of chromosome 14' + 'delta-like 1 homolog (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_156230 Label: Facial arteriovenous malformation - 'Facial arteriovenous malformation' SubClassOf 'group of disorders' + 'Facial arteriovenous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183622 Label: Genetic respiratory malformation - 'Genetic respiratory malformation' SubClassOf 'group of disorders' + 'Genetic respiratory malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98892 Label: Periventricular nodular heterotopia - 'Periventricular nodular heterotopia' SubClassOf 'has_prevalence' some 'Unknown' - 'Periventricular nodular heterotopia' SubClassOf 'part_of' some 'Nodular neuronal heterotopia' - 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Periventricular nodular heterotopia' SubClassOf 'clinical subtype' + 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Periventricular nodular heterotopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Periventricular nodular heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nodular neuronal heterotopia' + 'Periventricular nodular heterotopia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98897 Label: Oculopharyngodistal myopathy - 'Oculopharyngodistal myopathy' SubClassOf 'disease' - 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Distal myopathy' - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Ptosis' - 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Oculopharyngodistal myopathy' SubClassOf 'disease' + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal myopathy' + 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254351 Label: Distal 7q11.23 microdeletion syndrome - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 7' - 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal 7q11.23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 7' Class: http://www.orpha.net/ORDO/Orphanet_183625 Label: Rare genetic diabetes mellitus - 'Rare genetic diabetes mellitus' SubClassOf 'group of disorders' + 'Rare genetic diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98895 Label: Becker muscular dystrophy - 'Becker muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Becker muscular dystrophy' SubClassOf 'disease' - 'Becker muscular dystrophy' SubClassOf 'part_of' some 'Duchenne and Becker muscular dystrophy' - 'Becker muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Becker muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Becker muscular dystrophy' SubClassOf 'disease' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duchenne and Becker muscular dystrophy' + 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Becker muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Becker muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_183628 Label: Rare genetic hypothalamic or pituitary disease - 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'group of disorders' + 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98896 Label: Duchenne muscular dystrophy - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dystrophin' - 'Duchenne muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Myopathy with eye involvement' - 'Duchenne muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Duchenne muscular dystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Duchenne muscular dystrophy' SubClassOf 'disease' - 'Duchenne muscular dystrophy' SubClassOf 'part_of' some 'Duchenne and Becker muscular dystrophy' + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "9.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dystrophin' + 'Duchenne muscular dystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Duchenne muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myopathy with eye involvement' + 'Duchenne muscular dystrophy' SubClassOf 'disease' + 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duchenne and Becker muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_217587 Label: Mitochondrial disease with hypertrophic cardiomyopathy - 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217581 Label: Lysosomal disease with hypertrophic cardiomyopathy - 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98889 Label: Bilateral perisylvian polymicrogyria - 'Bilateral perisylvian polymicrogyria' SubClassOf 'clinical subtype' - 'Bilateral perisylvian polymicrogyria' SubClassOf 'part_of' some 'Bilateral polymicrogyria' + 'Bilateral perisylvian polymicrogyria' SubClassOf 'clinical subtype' + 'Bilateral perisylvian polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bilateral polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_98888 Label: X-linked complex spastic paraplegia - 'X-linked complex spastic paraplegia' SubClassOf 'group of disorders' + 'X-linked complex spastic paraplegia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183631 Label: Rare genetic thyroid disease - 'Rare genetic thyroid disease' SubClassOf 'group of disorders' + 'Rare genetic thyroid disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281487 Label: heparan sulfate 6-O-sulfotransferase 1 - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kallmann syndrome' - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf 'gene' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Kallmann syndrome' + 'heparan sulfate 6-O-sulfotransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1307 Label: Distal limb deficiencies - micrognathia syndrome - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'malformation syndrome' - 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 10' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 10' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'malformation syndrome' + 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_392307 Label: atlastin GTPase 3 - 'atlastin GTPase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' - 'atlastin GTPase 3' SubClassOf 'gene' + 'atlastin GTPase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'atlastin GTPase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'atlastin GTPase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1308 Label: C syndrome - 'C syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'C syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'C syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'C syndrome' SubClassOf 'malformation syndrome' - 'C syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'C syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'C syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'C syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'C syndrome' SubClassOf 'malformation syndrome' + 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'C syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_363523 Label: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'disease' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with odontological manifestation' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'disease' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1309 Label: Medullary sponge kidney - 'Medullary sponge kidney' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Medullary sponge kidney' SubClassOf 'morphological anomaly' - 'Medullary sponge kidney' SubClassOf 'part_of' some 'Genetic non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic renal or urinary tract malformation' + 'Medullary sponge kidney' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_228123 Label: Coccidioidomycosis - 'Coccidioidomycosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Coccidioidomycosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Coccidioidomycosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Coccidioidomycosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Coccidioidomycosis' SubClassOf 'disease' + 'Coccidioidomycosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Coccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Coccidioidomycosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Coccidioidomycosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281482 Label: additional sex combs like transcriptional regulator 1 - 'additional sex combs like transcriptional regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome' - 'additional sex combs like transcriptional regulator 1' SubClassOf 'gene' + 'additional sex combs like transcriptional regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome' + 'additional sex combs like transcriptional regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'additional sex combs like transcriptional regulator 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1328 Label: Camurati-Engelmann disease - 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Camurati-Engelmann disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Camurati-Engelmann disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camurati-Engelmann disease' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Camurati-Engelmann disease' SubClassOf 'malformation syndrome' + 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Camurati-Engelmann disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Camurati-Engelmann disease' SubClassOf 'malformation syndrome' + 'Camurati-Engelmann disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_177929 Label: Symptomatic form of hemophilia B in female carriers - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'part_of' some 'Hemophilia B' - 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'clinical subtype' + 'Symptomatic form of hemophilia B in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia B' + 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1327 Label: Camptodactyly syndrome, Guadalajara type 1 - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'malformation syndrome' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'malformation syndrome' + 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1326 Label: Camptodactyly syndrome, Guadalajara type 2 - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'malformation syndrome' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156246 Label: Nose and cavum anomaly - 'Nose and cavum anomaly' SubClassOf 'group of disorders' + 'Nose and cavum anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1325 Label: Camptodactyly - taurinuria - 'Camptodactyly - taurinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly - taurinuria' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' - 'Camptodactyly - taurinuria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptodactyly - taurinuria' SubClassOf 'malformation syndrome' - 'Camptodactyly - taurinuria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptodactyly - taurinuria' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptodactyly - taurinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptodactyly - taurinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly - taurinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb malformations as a major feature' + 'Camptodactyly - taurinuria' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_177926 Label: Symptomatic form of hemophilia A in female carriers - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'clinical subtype' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'part_of' some 'Hemophilia A' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'clinical subtype' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemophilia A' + 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_156249 Label: Larynx anomaly - 'Larynx anomaly' SubClassOf 'group of disorders' + 'Larynx anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122226 Label: gonadotropin-releasing hormone receptor - 'gonadotropin-releasing hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' - 'gonadotropin-releasing hormone receptor' SubClassOf 'gene' + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gonadotropin-releasing hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Normosmic congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1320 Label: Camptocormia - 'Camptocormia' SubClassOf 'part_of' some 'Acquired skeletal muscle disease' - 'Camptocormia' SubClassOf 'has_prevalence' some 'Unknown' - 'Camptocormia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Camptocormia' SubClassOf 'morphological anomaly' + 'Camptocormia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Camptocormia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Camptocormia' SubClassOf 'morphological anomaly' + 'Camptocormia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_98863 Label: X-linked Emery-Dreifuss muscular dystrophy - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of emerin' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of emerin' + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_352709 Label: CLN13 disease - 'CLN13 disease' SubClassOf 'etiological subtype' - 'CLN13 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN13 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN13 disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLN13 disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'CLN13 disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLN13 disease' SubClassOf 'etiological subtype' + 'CLN13 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN13 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN13 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_159562 Label: NK2 homeobox 6 - 'NK2 homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Truncus arteriosus' - 'NK2 homeobox 6' SubClassOf 'gene' + 'NK2 homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Double outlet right ventricle' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Truncus arteriosus' + 'NK2 homeobox 6' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot' + 'NK2 homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p21.2"^^http://www.w3.org/2001/XMLSchema#string + 'NK2 homeobox 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156243 Label: Pinnae and external auditory canal anomaly - 'Pinnae and external auditory canal anomaly' SubClassOf 'group of disorders' + 'Pinnae and external auditory canal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122221 Label: N-acetylglucosamine-1-phosphate transferase, gamma subunit - 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucolipidosis type 3' - 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf 'gene' + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosamine-1-phosphate transferase, gamma subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Mucolipidosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_320561 Label: Rho guanine nucleotide exchange factor (GEF) 10 - 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'gene' - 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant slowed nerve conduction velocity' + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23"^^http://www.w3.org/2001/XMLSchema#string + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant slowed nerve conduction velocity' + 'Rho guanine nucleotide exchange factor (GEF) 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159566 Label: erythrocyte membrane protein band 4.2 - 'erythrocyte membrane protein band 4.2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' - 'erythrocyte membrane protein band 4.2' SubClassOf 'gene' + 'erythrocyte membrane protein band 4.2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary spherocytosis' + 'erythrocyte membrane protein band 4.2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15-q21"^^http://www.w3.org/2001/XMLSchema#string + 'erythrocyte membrane protein band 4.2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_248095 Label: Primary hypertrophic osteoarthropathy - 'Primary hypertrophic osteoarthropathy' SubClassOf 'group of disorders' + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary hypertrophic osteoarthropathy' SubClassOf 'group of disorders' + 'Primary hypertrophic osteoarthropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398677 Label: solute carrier family 7, member 2-intron1 (long non-coding RNA) - 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAVINE syndrome' - 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'gene' + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p22"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAVINE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183654 Label: Rare genetic coagulation disorder - 'Rare genetic coagulation disorder' SubClassOf 'group of disorders' + 'Rare genetic coagulation disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_352712 Label: Facial dysmorphism - immunodeficiency - livedo - short stature - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'part_of' some 'Other immunodeficiency syndrome due to defects in adaptive immunity' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'disease' - 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'disease' + 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome due to defects in adaptive immunity' Class: http://www.orpha.net/ORDO/Orphanet_183663 Label: Hyper-IgM syndrome with susceptibility to opportunistic infections - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'disease' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_376571 Label: aryl-hydrocarbon receptor nuclear translocator 2 - 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf 'gene' - 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' + 'aryl-hydrocarbon receptor nuclear translocator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98856 Label: Charcot-Marie-Tooth disease type 2B1 - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_prevalence' some 'Unknown' - 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'disease' + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98855 Label: Autosomal recessive Emery-Dreifuss muscular dystrophy - 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'part_of' some 'Emery-Dreifuss muscular dystrophy' - 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'etiological subtype' + 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_183660 Label: Severe combined immunodeficiency - 'Severe combined immunodeficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe combined immunodeficiency' SubClassOf 'group of disorders' - 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410045) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.79"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.72"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Severe combined immunodeficiency' SubClassOf 'group of disorders' + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410036) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe combined immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_303004 Label: leucine rich repeat (in FLII) interacting protein 2 - 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'gene' - 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'Part of a fusion gene in' some 'Hereditary nonpolyposis colon cancer' + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf 'Part of a fusion gene in' some 'Hereditary nonpolyposis colon cancer' + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat (in FLII) interacting protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_326706 Label: transcription factor EB - 'transcription factor EB' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' - 'transcription factor EB' SubClassOf 'gene' + 'transcription factor EB' SubClassOf 'Part of a fusion gene in' some 'Translocation renal cell carcinoma' + 'transcription factor EB' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transcription factor EB' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_45360 Label: M�ni�re disease - 'M�ni�re disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'M�ni�re disease' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'M�ni�re disease' SubClassOf 'disease' - 'M�ni�re disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'M�ni�re disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'M�ni�re disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'M�ni�re disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'M�ni�re disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "42.5"^^http://www.w3.org/2001/XMLSchema#string) + 'M�ni�re disease' SubClassOf 'disease' + 'M�ni�re disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_376575 Label: K(lysine) acetyltransferase 6A - 'K(lysine) acetyltransferase 6A' SubClassOf 'gene' - 'K(lysine) acetyltransferase 6A' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'K(lysine) acetyltransferase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'K(lysine) acetyltransferase 6A' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'K(lysine) acetyltransferase 6A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1318 Label: Campomelia, Cumming type - 'Campomelia, Cumming type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Campomelia, Cumming type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Campomelia, Cumming type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Campomelia, Cumming type' SubClassOf 'malformation syndrome' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Campomelia, Cumming type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Campomelia, Cumming type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Campomelia, Cumming type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Campomelia, Cumming type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1319 Label: Camptobrachydactyly - 'Camptobrachydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptobrachydactyly' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Camptobrachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Camptobrachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptobrachydactyly' SubClassOf 'malformation syndrome' + 'Camptobrachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Camptobrachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Camptobrachydactyly' SubClassOf 'malformation syndrome' + 'Camptobrachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptobrachydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_157788 Label: Hypospadias - hypertelorism - coloboma and deafness - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'malformation syndrome' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'malformation syndrome' + 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1336 Label: Hyperkeratosis-hyperpigmentation syndrome - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_228140 Label: Idiopathic ventricular fibrillation, not Brugada type - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'disease' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'disease' + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_159556 Label: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'gene' - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' - 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.3-q28"^^http://www.w3.org/2001/XMLSchema#string + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bifunctional enzyme deficiency' + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1338 Label: Heart defect-tongue hamartoma-polysyndactyly syndrome - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'malformation syndrome' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1333 Label: Familial pancreatic carcinoma - 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Genetic pancreatic disease' - 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic tumor' - 'Familial pancreatic carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Familial pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial pancreatic carcinoma' SubClassOf 'disease' + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pancreatic disease' + 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pancreatic tumor' + 'Familial pancreatic carcinoma' SubClassOf 'disease' + 'Familial pancreatic carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Familial pancreatic carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1332 Label: Medullary thyroid carcinoma - 'Medullary thyroid carcinoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Medullary thyroid carcinoma' SubClassOf 'part_of' some 'Thyroid carcinoma' - 'Medullary thyroid carcinoma' SubClassOf 'disease' - 'Medullary thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Medullary thyroid carcinoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thyroid carcinoma' + 'Medullary thyroid carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Medullary thyroid carcinoma' SubClassOf 'disease' + 'Medullary thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Medullary thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.17"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122237 Label: glycoprotein Ib (platelet), alpha polypeptide - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'gene' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' - 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudo-von Willebrand disease' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bernard-Soulier syndrome' + 'glycoprotein Ib (platelet), alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudo-von Willebrand disease' Class: http://www.orpha.net/ORDO/Orphanet_1335 Label: Cantrell pentalogy - 'Cantrell pentalogy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Cantrell pentalogy' SubClassOf 'malformation syndrome' - 'Cantrell pentalogy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Cantrell pentalogy' SubClassOf 'has_inheritance' some 'sporadic' - 'Cantrell pentalogy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf 'malformation syndrome' + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Cantrell pentalogy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cantrell pentalogy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Cantrell pentalogy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_254379 Label: Linear lichen planus - 'Linear lichen planus' SubClassOf 'has_prevalence' some 'Unknown' - 'Linear lichen planus' SubClassOf 'disease' - 'Linear lichen planus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Linear lichen planus' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Linear lichen planus' SubClassOf 'disease' + 'Linear lichen planus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Linear lichen planus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_1334 Label: Chronic mucocutaneous candidosis - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Chronic mucocutaneous candidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Chronic mucocutaneous candidosis' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Chronic mucocutaneous candidosis' SubClassOf 'disease' + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune deficiency with skin involvement' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic immune deficiency with skin involvement' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Chronic mucocutaneous candidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chronic mucocutaneous candidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254373 Label: Rare mucosal lichen planus - 'Rare mucosal lichen planus' SubClassOf 'group of disorders' + 'Rare mucosal lichen planus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159550 Label: thymidine phosphorylase - 'thymidine phosphorylase' SubClassOf 'gene' - 'thymidine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'thymidine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thymidine phosphorylase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial neurogastrointestinal encephalomyopathy' + 'thymidine phosphorylase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98873 Label: Congenital dyserythropoietic anemia type II - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type II' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'Congenital dyserythropoietic anemia type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'Congenital dyserythropoietic anemia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' + 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1331 Label: Familial prostate cancer - 'Familial prostate cancer' SubClassOf 'disease' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Genetic urogenital tumor' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare genetic urogenital disease' - 'Familial prostate cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare urinary tract tumor' + 'Familial prostate cancer' SubClassOf 'disease' + 'Familial prostate cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urinary tract tumor' + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tumor' + 'Familial prostate cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "9.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_1330 Label: Partial atrioventricular canal - 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Partial atrioventricular canal' SubClassOf 'morphological anomaly' - 'Partial atrioventricular canal' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Partial atrioventricular canal' SubClassOf 'part_of' some 'Atrioventricular canal defect' + 'Partial atrioventricular canal' SubClassOf 'morphological anomaly' + 'Partial atrioventricular canal' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Partial atrioventricular canal' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrioventricular canal defect' + 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Partial atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Partial atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 Class: http://www.orpha.net/ORDO/Orphanet_98871 Label: Transient erythroblastopenia of childhood - 'Transient erythroblastopenia of childhood' SubClassOf 'disease' - 'Transient erythroblastopenia of childhood' SubClassOf 'part_of' some 'Red cell aplasia' + 'Transient erythroblastopenia of childhood' SubClassOf 'disease' + 'Transient erythroblastopenia of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Red cell aplasia' Class: http://www.orpha.net/ORDO/Orphanet_156252 Label: Tracheal anomaly - 'Tracheal anomaly' SubClassOf 'group of disorders' + 'Tracheal anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122230 Label: glucosamine (N-acetyl)-6-sulfatase - 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'gene' - 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type D' + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14"^^http://www.w3.org/2001/XMLSchema#string + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type D' + 'glucosamine (N-acetyl)-6-sulfatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_98872 Label: Adult pure red cell aplasia - 'Adult pure red cell aplasia' SubClassOf 'disease' - 'Adult pure red cell aplasia' SubClassOf 'part_of' some 'Red cell aplasia' + 'Adult pure red cell aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Red cell aplasia' + 'Adult pure red cell aplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183643 Label: Genetic polyendocrinopathy - 'Genetic polyendocrinopathy' SubClassOf 'group of disorders' + 'Genetic polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122232 Label: golgin A5 - 'golgin A5' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'golgin A5' SubClassOf 'gene' + 'golgin A5' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'golgin A5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'golgin A5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_98870 Label: Congenital dyserythropoietic anemia type III - 'Congenital dyserythropoietic anemia type III' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Congenital dyserythropoietic anemia type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type III' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Congenital dyserythropoietic anemia type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital dyserythropoietic anemia type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_254370 Label: Rare cutaneous lichen planus - 'Rare cutaneous lichen planus' SubClassOf 'group of disorders' + 'Rare cutaneous lichen planus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183651 Label: Rare constitutional anemia - 'Rare constitutional anemia' SubClassOf 'group of disorders' + 'Rare constitutional anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_376561 Label: B-cell receptor-associated protein 31 - 'B-cell receptor-associated protein 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' - 'B-cell receptor-associated protein 31' SubClassOf 'gene' - 'B-cell receptor-associated protein 31' SubClassOf 'Role in the phenotype of' some 'CADDS' + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'B-cell receptor-associated protein 31' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B-cell receptor-associated protein 31' SubClassOf 'Role in the phenotype of' some 'CADDS' Class: http://www.orpha.net/ORDO/Orphanet_98869 Label: Congenital dyserythropoietic anemia type I - 'Congenital dyserythropoietic anemia type I' SubClassOf 'disease' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital dyserythropoietic anemia type I' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital dyserythropoietic anemia type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia type I' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_98868 Label: Southeast Asian ovalocytosis - 'Southeast Asian ovalocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Southeast Asian ovalocytosis' SubClassOf 'disease' - 'Southeast Asian ovalocytosis' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Southeast Asian ovalocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Southeast Asian ovalocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Southeast Asian ovalocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Southeast Asian ovalocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Southeast Asian ovalocytosis' SubClassOf 'disease' + 'Southeast Asian ovalocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Southeast Asian ovalocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_45358 Label: Congenital fibrosis of extraocular muscles - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'disease' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Progressive muscular dystrophy' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Ptosis' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'disease' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive muscular dystrophy' + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_376567 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 18 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase with thrombospondin type 1 motif, 18' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1329 Label: Complete atrioventricular canal - 'Complete atrioventricular canal' SubClassOf 'morphological anomaly' - 'Complete atrioventricular canal' SubClassOf 'has_inheritance' some 'sporadic' - 'Complete atrioventricular canal' SubClassOf 'has_prevalence' some 'Unknown' - 'Complete atrioventricular canal' SubClassOf 'part_of' some 'Atrioventricular canal defect' - 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Complete atrioventricular canal' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Complete atrioventricular canal' SubClassOf 'morphological anomaly' + 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Complete atrioventricular canal' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Complete atrioventricular canal' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrioventricular canal defect' + 'Complete atrioventricular canal' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_228145 Label: Multiple sclerosis variant - 'Multiple sclerosis variant' SubClassOf 'group of disorders' + 'Multiple sclerosis variant' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_328915 Label: integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) - 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' - 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'gene' + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_328918 Label: CD109 molecule - 'CD109 molecule' SubClassOf 'gene' - 'CD109 molecule' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'CD109 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD109 molecule' SubClassOf 'Candidate gene tested in' some 'Fetal and neonatal alloimmune thrombocytopenia' + 'CD109 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363567 Label: Acute encephalopathy with inflammation-mediated status epilepticus - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'group of disorders' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_prevalence' some 'Unknown' + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_321364 Label: transmembrane protein 231 - 'transmembrane protein 231' SubClassOf 'gene' - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'transmembrane protein 231' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Meckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_45452 Label: Idiopathic neonatal atrial flutter - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic neonatal atrial flutter' SubClassOf 'disease' - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Idiopathic neonatal atrial flutter' SubClassOf 'part_of' some 'Non-genetic cardiac rhythm disease' - 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Idiopathic neonatal atrial flutter' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic neonatal atrial flutter' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic neonatal atrial flutter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-genetic cardiac rhythm disease' + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Idiopathic neonatal atrial flutter' SubClassOf 'disease' + 'Idiopathic neonatal atrial flutter' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_160142 Label: complement component (3d/Epstein Barr virus) receptor 2 - 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'gene' + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'complement component (3d/Epstein Barr virus) receptor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_45453 Label: Incessant infant ventricular tachycardia - 'Incessant infant ventricular tachycardia' SubClassOf 'part_of' some 'Non-genetic cardiac rhythm disease' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_inheritance' some 'sporadic' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Incessant infant ventricular tachycardia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Incessant infant ventricular tachycardia' SubClassOf 'disease' + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Incessant infant ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-genetic cardiac rhythm disease' + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Incessant infant ventricular tachycardia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Incessant infant ventricular tachycardia' SubClassOf 'disease' + 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Incessant infant ventricular tachycardia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Incessant infant ventricular tachycardia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_183554 Label: Genetic respiratory or mediastinal malformation - 'Genetic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Genetic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93686 Label: Multicentric Castleman disease - 'Multicentric Castleman disease' SubClassOf 'clinical subtype' - 'Multicentric Castleman disease' SubClassOf 'part_of' some 'Castleman disease' + 'Multicentric Castleman disease' SubClassOf 'clinical subtype' + 'Multicentric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_303011 Label: leucine rich repeat and sterile alpha motif containing 1 - 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'gene' - 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine rich repeat and sterile alpha motif containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' Class: http://www.orpha.net/ORDO/Orphanet_93685 Label: Localized Castleman disease - 'Localized Castleman disease' SubClassOf 'part_of' some 'Castleman disease' - 'Localized Castleman disease' SubClassOf 'clinical subtype' + 'Localized Castleman disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Localized Castleman disease' SubClassOf 'clinical subtype' + 'Localized Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' Class: http://www.orpha.net/ORDO/Orphanet_310868 Label: optic atrophy 2 (obscure) - 'optic atrophy 2 (obscure)' SubClassOf 'gene' - 'optic atrophy 2 (obscure)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset X-linked optic atrophy' + 'optic atrophy 2 (obscure)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4-p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'optic atrophy 2 (obscure)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'optic atrophy 2 (obscure)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset X-linked optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_225372 Label: thyroid hormone receptor interactor 11 - 'thyroid hormone receptor interactor 11' SubClassOf 'gene' - 'thyroid hormone receptor interactor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1A' + 'thyroid hormone receptor interactor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'thyroid hormone receptor interactor 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'thyroid hormone receptor interactor 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achondrogenesis type 1A' Class: http://www.orpha.net/ORDO/Orphanet_2482 Label: Melhem-Fahl syndrome - 'Melhem-Fahl syndrome' SubClassOf 'malformation syndrome' - 'Melhem-Fahl syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Melhem-Fahl syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Melhem-Fahl syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2481 Label: Neurocutaneous melanocytosis - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Rare nevus' - 'Neurocutaneous melanocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Neurocutaneous melanocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Neurocutaneous melanocytosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Neurocutaneous melanocytosis' SubClassOf 'disease' + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Neurocutaneous melanocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurocutaneous melanocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Neurocutaneous melanocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neurocutaneous melanocytosis' SubClassOf 'disease' + 'Neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited nervous system cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183548 Label: Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' + 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2486 Label: Transverse limb deficiency - hemangioma - 'Transverse limb deficiency - hemangioma' SubClassOf 'malformation syndrome' - 'Transverse limb deficiency - hemangioma' SubClassOf 'part_of' some 'Vascular tumor' + 'Transverse limb deficiency - hemangioma' SubClassOf 'malformation syndrome' + 'Transverse limb deficiency - hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_2485 Label: Melorheostosis - 'Melorheostosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Melorheostosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Melorheostosis' SubClassOf 'malformation syndrome' - 'Melorheostosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Melorheostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Melorheostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Melorheostosis' SubClassOf 'malformation syndrome' + 'Melorheostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Melorheostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Melorheostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2484 Label: Osteodysplasty, Melnick-Needles type - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Frontootopalatodigital syndrome' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'malformation syndrome' - 'Osteodysplasty, Melnick-Needles type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontootopalatodigital syndrome' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Osteodysplasty, Melnick-Needles type' SubClassOf 'malformation syndrome' + 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_159456 Label: mediator complex subunit 13-like - 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'mediator complex subunit 13-like' SubClassOf 'gene' - 'mediator complex subunit 13-like' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' - 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' + 'mediator complex subunit 13-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.22"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'mediator complex subunit 13-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mediator complex subunit 13-like' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' + 'mediator complex subunit 13-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_183545 Label: Genetic digestive tract malformation - 'Genetic digestive tract malformation' SubClassOf 'group of disorders' + 'Genetic digestive tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2483 Label: Melkersson-Rosenthal syndrome - 'Melkersson-Rosenthal syndrome' SubClassOf 'part_of' some 'Rare urticaria' - 'Melkersson-Rosenthal syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Melkersson-Rosenthal syndrome' SubClassOf 'malformation syndrome' - 'Melkersson-Rosenthal syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Melkersson-Rosenthal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Melkersson-Rosenthal syndrome' SubClassOf 'malformation syndrome' + 'Melkersson-Rosenthal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_2489 Label: Upper limb defect - eye and ear abnormalities - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Upper limb defect - eye and ear abnormalities' SubClassOf 'malformation syndrome' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Upper limb defect - eye and ear abnormalities' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2487 Label: Lower limb deficiency - hypospadias - 'Lower limb deficiency - hypospadias' SubClassOf 'malformation syndrome' - 'Lower limb deficiency - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Lower limb deficiency - hypospadias' SubClassOf 'malformation syndrome' + 'Lower limb deficiency - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_321350 Label: MDM2 proto-oncogene, E3 ubiquitin protein ligase - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'gene' - 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q14"^^http://www.w3.org/2001/XMLSchema#string + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Well-differentiated liposarcoma' + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MDM2 proto-oncogene, E3 ubiquitin protein ligase' SubClassOf 'Role in the phenotype of' some 'Dedifferentiated liposarcoma' Class: http://www.orpha.net/ORDO/Orphanet_363558 Label: New-onset refractory status epilepticus - 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'New-onset refractory status epilepticus' SubClassOf 'disease' - 'New-onset refractory status epilepticus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'New-onset refractory status epilepticus' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'New-onset refractory status epilepticus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'New-onset refractory status epilepticus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' + 'New-onset refractory status epilepticus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'New-onset refractory status epilepticus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225368 Label: keratin 6C - 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' - 'keratin 6C' SubClassOf 'gene' + 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' + 'keratin 6C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 6C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_303024 Label: SPARC related modular calcium binding 2 - 'SPARC related modular calcium binding 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical dentin dysplasia due to SMOC2 deficiency' - 'SPARC related modular calcium binding 2' SubClassOf 'gene' + 'SPARC related modular calcium binding 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical dentin dysplasia due to SMOC2 deficiency' + 'SPARC related modular calcium binding 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q27"^^http://www.w3.org/2001/XMLSchema#string + 'SPARC related modular calcium binding 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_303028 Label: glutamate receptor interacting protein 1 - 'glutamate receptor interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' - 'glutamate receptor interacting protein 1' SubClassOf 'gene' + 'glutamate receptor interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate receptor interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'glutamate receptor interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_159463 Label: zinc finger protein 469 - 'zinc finger protein 469' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' - 'zinc finger protein 469' SubClassOf 'gene' + 'zinc finger protein 469' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger protein 469' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger protein 469' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2471 Label: McDonough syndrome - 'McDonough syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'McDonough syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'McDonough syndrome' SubClassOf 'malformation syndrome' - 'McDonough syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf 'malformation syndrome' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2470 Label: Matthew-Wood syndrome - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' - 'Matthew-Wood syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Thoracic malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Respiratory malformation' - 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Matthew-Wood syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or thoracic malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' + 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' + 'Matthew-Wood syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic malformation' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Matthew-Wood syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Matthew-Wood syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2473 Label: McKusick-Kaufman syndrome - 'McKusick-Kaufman syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'McKusick-Kaufman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'McKusick-Kaufman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'McKusick-Kaufman syndrome' SubClassOf 'malformation syndrome' - 'McKusick-Kaufman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'McKusick-Kaufman syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'McKusick-Kaufman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'McKusick-Kaufman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'McKusick-Kaufman syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159467 Label: ZFP90 zinc finger protein - 'ZFP90 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' - 'ZFP90 zinc finger protein' SubClassOf 'gene' + 'ZFP90 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ZFP90 zinc finger protein' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 3' + 'ZFP90 zinc finger protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183557 Label: Genetic developmental defect of the eye - 'Genetic developmental defect of the eye' SubClassOf 'group of disorders' + 'Genetic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2475 Label: White forelock with malformations - 'White forelock with malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'White forelock with malformations' SubClassOf 'malformation syndrome' - 'White forelock with malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'White forelock with malformations' SubClassOf 'malformation syndrome' + 'White forelock with malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_217557 Label: Pulmonary interstitial glycogenosis - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pulmonary interstitial glycogenosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Pulmonary interstitial glycogenosis' SubClassOf 'disease' - 'Pulmonary interstitial glycogenosis' SubClassOf 'part_of' some 'Interstitial lung disease specific to infancy' + 'Pulmonary interstitial glycogenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interstitial lung disease specific to infancy' + 'Pulmonary interstitial glycogenosis' SubClassOf 'disease' + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pulmonary interstitial glycogenosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2477 Label: Megalencephaly - 'Megalencephaly' SubClassOf 'part_of' some 'Cerebral malformation' - 'Megalencephaly' SubClassOf 'malformation syndrome' + 'Megalencephaly' SubClassOf 'malformation syndrome' + 'Megalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_2476 Label: Medeira-Dennis-Donnai syndrome - 'Medeira-Dennis-Donnai syndrome' SubClassOf 'malformation syndrome' - 'Medeira-Dennis-Donnai syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Medeira-Dennis-Donnai syndrome' SubClassOf 'malformation syndrome' + 'Medeira-Dennis-Donnai syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363549 Label: Acute encephalopathy with biphasic seizures and late reduced diffusion - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'disease' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'disease' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2479 Label: Megalocornea-intellectual disability syndrome - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Megalocornea-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Megalocornea-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_178045 Label: Transient congenital hypothyroidism - 'Transient congenital hypothyroidism' SubClassOf 'has_prevalence' some 'Unknown' - 'Transient congenital hypothyroidism' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism' SubClassOf 'group of disorders' + 'Transient congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Transient congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1000.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2478 Label: Megalencephalic leukoencephalopathy with subcortical cysts - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'part_of' some 'Leukodystrophy' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'disease' + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178040 Label: Peripheral precocious puberty - 'Peripheral precocious puberty' SubClassOf 'group of disorders' + 'Peripheral precocious puberty' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160148 Label: Cap polyposis - 'Cap polyposis' SubClassOf 'has_inheritance' some 'sporadic' - 'Cap polyposis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cap polyposis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cap polyposis' SubClassOf 'disease' - 'Cap polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Cap polyposis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cap polyposis' SubClassOf 'disease' + 'Cap polyposis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cap polyposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal polyposis syndrome' + 'Cap polyposis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_33001 Label: Lymphedema - distichiasis - 'Lymphedema - distichiasis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lymphedema - distichiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lymphedema - distichiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Lymphedema - distichiasis' SubClassOf 'part_of' some 'Secondary ectropion' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Lymphedema - distichiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lymphedema - distichiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' + 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary ectropion' Class: http://www.orpha.net/ORDO/Orphanet_397606 Label: Chronic diarrhea with hereditary sensory and autonomic neuropathy - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Inherited prion disease' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'disease' - 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363540 Label: Leukoencephalopathy with mild cerebellar ataxia and white matter edema - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'disease' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'part_of' some 'Leukodystrophy' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'disease' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_328936 Label: mitochondrially encoded tRNA threonine - 'mitochondrially encoded tRNA threonine' SubClassOf 'gene' - 'mitochondrially encoded tRNA threonine' SubClassOf 'Candidate gene tested in' some 'Lethal infantile mitochondrial myopathy' + 'mitochondrially encoded tRNA threonine' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA threonine' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA threonine' SubClassOf 'Candidate gene tested in' some 'Lethal infantile mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_160121 Label: complement component 8, gamma polypeptide - 'complement component 8, gamma polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 8, gamma polypeptide' SubClassOf 'gene' + 'complement component 8, gamma polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, gamma polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, gamma polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363543 Label: Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_328932 Label: cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_217560 Label: Neuroendocrine cell hyperplasia of infancy - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'part_of' some 'Interstitial lung disease specific to infancy' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'disease' + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interstitial lung disease specific to infancy' + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neuroendocrine cell hyperplasia of infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183570 Label: Genetic malformation syndrome with short stature - 'Genetic malformation syndrome with short stature' SubClassOf 'group of disorders' + 'Genetic malformation syndrome with short stature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95512 Label: Adenohypophysitis - 'Adenohypophysitis' SubClassOf 'part_of' some 'Primary hypophysitis' - 'Adenohypophysitis' SubClassOf 'disease' + 'Adenohypophysitis' SubClassOf 'disease' + 'Adenohypophysitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypophysitis' Class: http://www.orpha.net/ORDO/Orphanet_183576 Label: Genetic branchial arch or oral-acral syndrome - 'Genetic branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' + 'Genetic branchial arch or oral-acral syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95513 Label: Panhypophysitis - 'Panhypophysitis' SubClassOf 'part_of' some 'Primary hypophysitis' - 'Panhypophysitis' SubClassOf 'disease' + 'Panhypophysitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hypophysitis' + 'Panhypophysitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183573 Label: Genetic overgrowth/obesity syndrome - 'Genetic overgrowth/obesity syndrome' SubClassOf 'group of disorders' + 'Genetic overgrowth/obesity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217569 Label: Hypertrophic cardiomyopathy - 'Hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159476 Label: colony stimulating factor 3 receptor (granulocyte) - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical chronic myeloid leukemia' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'gene' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chronic neutrophilic leukemia' - 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neutrophilia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Atypical chronic myeloid leukemia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p35-p34.3"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Chronic neutrophilic leukemia' + 'colony stimulating factor 3 receptor (granulocyte)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary neutrophilia' Class: http://www.orpha.net/ORDO/Orphanet_217566 Label: Chronic respiratory distress with surfactant metabolism deficiency - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' - 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159472 Label: vitamin K epoxide reductase complex, subunit 1 - 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' - 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'gene' + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary combined deficiency of vitamin K-dependent clotting factors' + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'vitamin K epoxide reductase complex, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_217563 Label: Neonatal acute respiratory distress with surfactant metabolism deficiency - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' - 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'disease' + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' Class: http://www.orpha.net/ORDO/Orphanet_160117 Label: complement component 8, alpha polypeptide - 'complement component 8, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 8, alpha polypeptide' SubClassOf 'gene' + 'complement component 8, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.2"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160119 Label: complement component 8, beta polypeptide - 'complement component 8, beta polypeptide' SubClassOf 'gene' - 'complement component 8, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 8, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 8, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32.2"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 8, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_397612 Label: Macrocephaly-developmental delay syndrome - 'Macrocephaly-developmental delay syndrome' SubClassOf 'malformation syndrome' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf 'malformation syndrome' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_178077 Label: radial spoke head 9 homolog (Chlamydomonas) - 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'gene' + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'radial spoke head 9 homolog (Chlamydomonas)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_397618 Label: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'disease' - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Optic neuropathy' - 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_397615 Label: Obesity due to CEP19 deficiency - 'Obesity due to CEP19 deficiency' SubClassOf 'disease' - 'Obesity due to CEP19 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' + 'Obesity due to CEP19 deficiency' SubClassOf 'disease' + 'Obesity due to CEP19 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_363534 Label: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Genetic renal tubular disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome, hepatocerebral form' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tubular disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_328924 Label: sodium channel, voltage-gated, type XI, alpha subunit - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 7' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial episodic pain syndrome with predominantly lower limb involvement' - 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sodium channelopathy-related small fiber neuropathy' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Sodium channelopathy-related small fiber neuropathy' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.2"^^http://www.w3.org/2001/XMLSchema#string + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Channelopathy-associated congenital insensitivity to pain' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hereditary sensory and autonomic neuropathy type 7' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Primary erythermalgia' + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Familial episodic pain syndrome with predominantly lower limb involvement' Class: http://www.orpha.net/ORDO/Orphanet_95507 Label: Congenital anomaly of hepatic vein - 'Congenital anomaly of hepatic vein' SubClassOf 'morphological anomaly' - 'Congenital anomaly of hepatic vein' SubClassOf 'part_of' some 'Congenital systemic veins anomaly' + 'Congenital anomaly of hepatic vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital systemic veins anomaly' + 'Congenital anomaly of hepatic vein' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_45448 Label: Miyoshi myopathy - 'Miyoshi myopathy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of dysferlin' - 'Miyoshi myopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Miyoshi myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' - 'Miyoshi myopathy' SubClassOf 'disease' - 'Miyoshi myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'Miyoshi myopathy' SubClassOf 'disease' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive distal myopathy' + 'Miyoshi myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of dysferlin' + 'Miyoshi myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Miyoshi myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_225386 Label: dihydroorotate dehydrogenase (quinone) - 'dihydroorotate dehydrogenase (quinone)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial acrofacial dysostosis' - 'dihydroorotate dehydrogenase (quinone)' SubClassOf 'gene' + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Postaxial acrofacial dysostosis' + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22.2"^^http://www.w3.org/2001/XMLSchema#string + 'dihydroorotate dehydrogenase (quinone)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_95506 Label: Primary hypophysitis - 'Primary hypophysitis' SubClassOf 'group of disorders' + 'Primary hypophysitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary hypophysitis' SubClassOf 'group of disorders' + 'Primary hypophysitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_183580 Label: Genetic malformation syndrome with odontal and/or periodontal component - 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' + 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95505 Label: Pituitary hormone deficiency from meningeal origin - 'Pituitary hormone deficiency from meningeal origin' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency from meningeal origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183583 Label: Genetic head and neck malformation - 'Genetic head and neck malformation' SubClassOf 'group of disorders' + 'Genetic head and neck malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217572 Label: Glycogen storage disease with hypertrophic cardiomyopathy - 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' + 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95503 Label: Pituitary hormone deficiency from tumoral origin - 'Pituitary hormone deficiency from tumoral origin' SubClassOf 'group of disorders' + 'Pituitary hormone deficiency from tumoral origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95502 Label: Acquired pituitary hormone deficiency - 'Acquired pituitary hormone deficiency' SubClassOf 'group of disorders' + 'Acquired pituitary hormone deficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_95500 Label: Congenital anomaly of the coronary sinus - 'Congenital anomaly of the coronary sinus' SubClassOf 'group of disorders' + 'Congenital anomaly of the coronary sinus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_183586 Label: Genetic glomerular disease - 'Genetic glomerular disease' SubClassOf 'group of disorders' + 'Genetic glomerular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2495 Label: Meningioma - 'Meningioma' SubClassOf 'part_of' some 'Pituitary hormone deficiency from tumoral origin' - 'Meningioma' SubClassOf 'disease' - 'Meningioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Meningioma' SubClassOf 'part_of' some 'Tumor of the meninges' - 'Meningioma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumor of the meninges' + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Meningioma' SubClassOf 'disease' + 'Meningioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Meningioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "4.52"^^http://www.w3.org/2001/XMLSchema#string) + 'Meningioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary hormone deficiency from tumoral origin' Class: http://www.orpha.net/ORDO/Orphanet_95510 Label: Atrial appendage anomaly - 'Atrial appendage anomaly' SubClassOf 'group of disorders' + 'Atrial appendage anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159489 Label: cathepsin D - 'cathepsin D' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN10 disease' - 'cathepsin D' SubClassOf 'gene' + 'cathepsin D' SubClassOf 'Disease-causing germline mutation(s) in' some 'CLN10 disease' + 'cathepsin D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2494 Label: Menetrier disease - 'Menetrier disease' SubClassOf 'disease' - 'Menetrier disease' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Menetrier disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Menetrier disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Menetrier disease' SubClassOf 'disease' + 'Menetrier disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Menetrier disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Menetrier disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_2497 Label: Upper limb mesomelic dysplasia - 'Upper limb mesomelic dysplasia' SubClassOf 'malformation syndrome' - 'Upper limb mesomelic dysplasia' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Upper limb mesomelic dysplasia' SubClassOf 'malformation syndrome' + 'Upper limb mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2496 Label: Mesomelia-synostoses syndrome - 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelia-synostoses syndrome' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Mesomelia-synostoses syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mesomelia-synostoses syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - 'Mesomelia-synostoses syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mesomelia-synostoses syndrome' SubClassOf 'malformation syndrome' + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Mesomelia-synostoses syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' + 'Mesomelia-synostoses syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelia-synostoses syndrome' SubClassOf 'malformation syndrome' + 'Mesomelia-synostoses syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_159484 Label: catenin (cadherin-associated protein), delta 2 - 'catenin (cadherin-associated protein), delta 2' SubClassOf 'Role in the phenotype of' some 'Monosomy 5p' - 'catenin (cadherin-associated protein), delta 2' SubClassOf 'gene' + 'catenin (cadherin-associated protein), delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'catenin (cadherin-associated protein), delta 2' SubClassOf 'Role in the phenotype of' some 'Monosomy 5p' + 'catenin (cadherin-associated protein), delta 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2491 Label: M�llerian duct anomalies - limb anomalies - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'malformation syndrome' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'M�llerian duct anomalies - limb anomalies' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'M�llerian duct anomalies - limb anomalies' SubClassOf 'malformation syndrome' + 'M�llerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' Class: http://www.orpha.net/ORDO/Orphanet_225380 Label: inverted formin, FH2 and WH2 domain containing - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'gene' - 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' + 'inverted formin, FH2 and WH2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'inverted formin, FH2 and WH2 domain containing' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'inverted formin, FH2 and WH2 domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' Class: http://www.orpha.net/ORDO/Orphanet_2492 Label: Limb transversal defect - cardiac anomaly - 'Limb transversal defect - cardiac anomaly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Limb transversal defect - cardiac anomaly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Limb transversal defect - cardiac anomaly' SubClassOf 'malformation syndrome' + 'Limb transversal defect - cardiac anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Limb transversal defect - cardiac anomaly' SubClassOf 'malformation syndrome' + 'Limb transversal defect - cardiac anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_160128 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 4 - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'gene' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160126 Label: complement component 9 - 'complement component 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' - 'complement component 9' SubClassOf 'gene' + 'complement component 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p12"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2499 Label: Metachondromatosis - 'Metachondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metachondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metachondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Metachondromatosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Metachondromatosis' SubClassOf 'malformation syndrome' + 'Metachondromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Metachondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metachondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metachondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Metachondromatosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363528 Label: Intellectual disability-strabismus syndrome - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Syndrome with a symptomatic strabismus' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability-strabismus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability-strabismus syndrome' SubClassOf 'disease' - 'Intellectual disability-strabismus syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-strabismus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability-strabismus syndrome' SubClassOf 'disease' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a symptomatic strabismus' + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-strabismus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2498 Label: Syndactyly type 8 - 'Syndactyly type 8' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 8' SubClassOf 'morphological anomaly' - 'Syndactyly type 8' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 8' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Syndactyly type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 8' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndactyly type 8' SubClassOf 'morphological anomaly' + 'Syndactyly type 8' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_397623 Label: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' - 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_183598 Label: Rare genetic palpebral, lacrimal system and conjunctival disease - 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' + 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281953 Label: delta-like 1 (Drosophila) - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'gene' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13-q22.33"^^http://www.w3.org/2001/XMLSchema#string + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'delta-like 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'delta-like 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_183595 Label: Genetic renal tumor - 'Genetic renal tumor' SubClassOf 'group of disorders' + 'Genetic renal tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label: Glycerol kinase deficiency, infantile form - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycerol kinase deficiency, infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_352763 Label: Scleredema - 'Scleredema' SubClassOf 'has_inheritance' some 'sporadic' - 'Scleredema' SubClassOf 'disease' - 'Scleredema' SubClassOf 'has_prevalence' some 'Unknown' - 'Scleredema' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Scleredema' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Scleredema' SubClassOf 'disease' + 'Scleredema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Scleredema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Scleredema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_356228 Label: serine active site containing 1 - 'serine active site containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEGDEL syndrome' - 'serine active site containing 1' SubClassOf 'gene' + 'serine active site containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serine active site containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MEGDEL syndrome' + 'serine active site containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183592 Label: Genetic renal tubular disease - 'Genetic renal tubular disease' SubClassOf 'group of disorders' + 'Genetic renal tubular disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2445 Label: Conotruncal heart malformations - 'Conotruncal heart malformations' SubClassOf 'group of disorders' + 'Conotruncal heart malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2443 Label: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2444 Label: Congenital pulmonary airway malformation - 'Congenital pulmonary airway malformation' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary airway malformation' SubClassOf 'malformation syndrome' - 'Congenital pulmonary airway malformation' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 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"0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410205) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf 'malformation syndrome' + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "18.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary airway malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_2447 Label: Congenital mitral malformation - 'Congenital mitral malformation' SubClassOf 'group of disorders' + 'Congenital mitral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_159494 Label: mastermind-like domain containing 1 - 'mastermind-like domain containing 1' SubClassOf 'gene' - 'mastermind-like domain containing 1' SubClassOf 'Role in the phenotype of' some 'X-linked centronuclear myopathy' - 'mastermind-like domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' + 'mastermind-like domain containing 1' SubClassOf 'Role in the phenotype of' some 'X-linked centronuclear myopathy' + 'mastermind-like domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mastermind-like domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hypospadias' + 'mastermind-like domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284411 Label: Glycerol kinase deficiency, juvenile form - 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' - 'Glycerol kinase deficiency, juvenile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, juvenile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2442 Label: X-linked lymphoproliferative disease - 'X-linked lymphoproliferative disease' SubClassOf 'disease' - 'X-linked lymphoproliferative disease' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked lymphoproliferative disease' SubClassOf 'part_of' some 'Primary hemophagocytic lymphohistiocytosis' - 'X-linked lymphoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' - 'X-linked lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked lymphoproliferative disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked lymphoproliferative disease' SubClassOf 'disease' + 'X-linked lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoproliferative syndrome' + 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary hemophagocytic lymphohistiocytosis' + 'X-linked lymphoproliferative disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked lymphoproliferative disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_183589 Label: Genetic thrombotic microangiopathy - 'Genetic thrombotic microangiopathy' SubClassOf 'group of disorders' + 'Genetic thrombotic microangiopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252175 Label: Vestibular schwannoma - 'Vestibular schwannoma' SubClassOf 'part_of' some 'Benign schwannoma' - 'Vestibular schwannoma' SubClassOf 'clinical subtype' + 'Vestibular schwannoma' SubClassOf 'clinical subtype' + 'Vestibular schwannoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign schwannoma' Class: http://www.orpha.net/ORDO/Orphanet_2440 Label: Split hand-split foot malformation - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Split hand-split foot malformation' SubClassOf 'malformation syndrome' - 'Split hand-split foot malformation' SubClassOf 'part_of' some 'Split hand or/and split foot malformation' - 'Split hand-split foot malformation' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Split hand-split foot malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some 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http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Split hand or/and split foot malformation' + 'Split hand-split foot malformation' SubClassOf 'malformation syndrome' + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Split hand-split foot malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_284414 Label: Glycerol kinase deficiency, adult form - 'Glycerol kinase deficiency, adult form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' - 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, adult form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284417 Label: Phosphoserine aminotransferase deficiency - 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Neurometabolic disorder due to serine deficiency' + 'Phosphoserine aminotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disorder due to serine deficiency' + 'Phosphoserine aminotransferase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Phosphoserine aminotransferase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_160112 Label: complement component 7 - 'complement component 7' SubClassOf 'gene' - 'complement component 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2429 Label: Macrocephaly - spastic paraplegia - dysmorphism - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'malformation syndrome' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_prevalence' some 'Unknown' - 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'malformation syndrome' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2432 Label: Macrosomia - microphthalmia - cleft palate - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'malformation syndrome' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'malformation syndrome' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_160107 Label: complement component 6 - 'complement component 6' SubClassOf 'gene' - 'complement component 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' + 'complement component 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'complement component 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement component 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to a late component of complements deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2435 Label: Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'disease' - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'part_of' some 'Genetic pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic pigmentation anomaly of the skin' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2437 Label: Split hand - urinary anomalies - spina bifida - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Split hand - urinary anomalies - spina bifida' SubClassOf 'malformation syndrome' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand - urinary anomalies - spina bifida' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Split hand - urinary anomalies - spina bifida' SubClassOf 'malformation syndrome' + 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2438 Label: Hand-foot-genital syndrome - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Hand-foot-genital syndrome' SubClassOf 'malformation syndrome' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hand-foot-genital syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Syndromic uterovaginal malformation' - 'Hand-foot-genital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hand-foot-genital syndrome' SubClassOf 'malformation syndrome' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hand-foot-genital syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic uterovaginal malformation' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2439 Label: Patterson-Stevenson-Fontaine syndrome - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'malformation syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2430 Label: Congenital macroglossia - 'Congenital macroglossia' SubClassOf 'malformation syndrome' - 'Congenital macroglossia' SubClassOf 'part_of' some 'Macroglossia' + 'Congenital macroglossia' SubClassOf 'malformation syndrome' + 'Congenital macroglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_2431 Label: Central bilateral macrogyria - 'Central bilateral macrogyria' SubClassOf 'part_of' some 'Cerebral cortical dysplasia' - 'Central bilateral macrogyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Central bilateral macrogyria' SubClassOf 'disease' - 'Central bilateral macrogyria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Central bilateral macrogyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral cortical dysplasia' + 'Central bilateral macrogyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central bilateral macrogyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Central bilateral macrogyria' SubClassOf 'disease' + 'Central bilateral macrogyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_252183 Label: Neurofibroma - 'Neurofibroma' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' - 'Neurofibroma' SubClassOf 'disease' + 'Neurofibroma' SubClassOf 'disease' + 'Neurofibroma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_356203 Label: retinol binding protein 4, plasma - 'retinol binding protein 4, plasma' SubClassOf 'gene' - 'retinol binding protein 4, plasma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive retinal dystrophy due to retinol transport defect' + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive retinal dystrophy due to retinol transport defect' + 'retinol binding protein 4, plasma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363582 Label: Gonadal germ cell tumor - 'Gonadal germ cell tumor' SubClassOf 'group of disorders' + 'Gonadal germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93665 Label: Autoinflammatory syndrome - 'Autoinflammatory syndrome' SubClassOf 'group of disorders' + 'Autoinflammatory syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2467 Label: Systemic mastocytosis - 'Systemic mastocytosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Systemic mastocytosis' SubClassOf 'group of disorders' - 'Systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Systemic mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Systemic mastocytosis' SubClassOf 'group of disorders' + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic mastocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_2466 Label: MASA syndrome - 'MASA syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MASA syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MASA syndrome' SubClassOf 'part_of' some 'X-linked complex spastic paraplegia' - 'MASA syndrome' SubClassOf 'part_of' some 'L1 syndrome' - 'MASA syndrome' SubClassOf 'clinical subtype' - 'MASA syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' + 'MASA syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked complex spastic paraplegia' + 'MASA syndrome' SubClassOf 'clinical subtype' + 'MASA syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MASA syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2463 Label: Marfanoid habitus - intellectual disability, autosomal recessive - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93672 Label: Juvenile dermatomyositis - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Juvenile dermatomyositis' SubClassOf 'has_prevalence' some 'Unknown' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Juvenile idiopathic inflammatory myopathy' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile dermatomyositis' SubClassOf 'disease' - 'Juvenile dermatomyositis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic inflammatory myopathy' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' + 'Juvenile dermatomyositis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.295"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile dermatomyositis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile dermatomyositis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Juvenile dermatomyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2464 Label: Marfanoid syndrome, De Silva type - 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' - 'Marfanoid syndrome, De Silva type' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Marfanoid syndrome, De Silva type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2461 Label: Marden-Walker syndrome - 'Marden-Walker syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Marden-Walker syndrome' SubClassOf 'malformation syndrome' - 'Marden-Walker syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Marden-Walker syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Marden-Walker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Marden-Walker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Marden-Walker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Marden-Walker syndrome' SubClassOf 'malformation syndrome' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Marden-Walker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410014) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_2462 Label: Shprintzen-Goldberg syndrome - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Shprintzen-Goldberg syndrome' SubClassOf 'malformation syndrome' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Shprintzen-Goldberg syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Shprintzen-Goldberg syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Shprintzen-Goldberg syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marfan and Marfan-related disorder' + 'Shprintzen-Goldberg syndrome' SubClassOf 'malformation syndrome' + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_122194 Label: GNAS complex locus - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudopseudohypoparathyroidism' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1A' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mazabraud syndrome' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'McCune-Albright syndrome' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1C' - 'GNAS complex locus' SubClassOf 'gene' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Monostotic fibrous dysplasia' - 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive osseous heteroplasia' - 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polyostotic fibrous dysplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive osseous heteroplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pseudohypoparathyroidism type 1A' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.2-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pseudopseudohypoparathyroidism' + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'McCune-Albright syndrome' + 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1B' + 'GNAS complex locus' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pseudohypoparathyroidism type 1C' + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Monostotic fibrous dysplasia' + 'GNAS complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GNAS complex locus' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Polyostotic fibrous dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2460 Label: Van den Ende-Gupta syndrome - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van den Ende-Gupta syndrome' SubClassOf 'malformation syndrome' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Van den Ende-Gupta syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Van den Ende-Gupta syndrome' SubClassOf 'malformation syndrome' + 'Van den Ende-Gupta syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Van den Ende-Gupta syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_252190 Label: Inherited nervous system cancer-predisposing syndrome - 'Inherited nervous system cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited nervous system cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_122192 Label: GM2 ganglioside activator - 'GM2 ganglioside activator' SubClassOf 'gene' - 'GM2 ganglioside activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM2-gangliosidosis, AB variant' + 'GM2 ganglioside activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GM2 ganglioside activator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'GM2 ganglioside activator' SubClassOf 'Disease-causing germline mutation(s) in' some 'GM2-gangliosidosis, AB variant' Class: http://www.orpha.net/ORDO/Orphanet_73423 Label: Acute ackee fruit intoxication - 'Acute ackee fruit intoxication' SubClassOf 'disease' - 'Acute ackee fruit intoxication' SubClassOf 'part_of' some 'Rare intoxication' - 'Acute ackee fruit intoxication' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute ackee fruit intoxication' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute ackee fruit intoxication' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute ackee fruit intoxication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute ackee fruit intoxication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute ackee fruit intoxication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Acute ackee fruit intoxication' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363579 Label: Extragonadal germ cell tumor - 'Extragonadal germ cell tumor' SubClassOf 'group of disorders' + 'Extragonadal germ cell tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356212 Label: solute carrier family 25 (aspartate/glutamate carrier), member 12 - 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'gene' - 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epileptic encephalopathy with global cerebral demyelination' + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epileptic encephalopathy with global cerebral demyelination' + 'solute carrier family 25 (aspartate/glutamate carrier), member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2459 Label: Mansonelliasis - 'Mansonelliasis' SubClassOf 'disease' - 'Mansonelliasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Mansonelliasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Mansonelliasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mansonelliasis' SubClassOf 'part_of' some 'Filariasis' + 'Mansonelliasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mansonelliasis' SubClassOf 'disease' + 'Mansonelliasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mansonelliasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' Class: http://www.orpha.net/ORDO/Orphanet_2454 Label: Familial intestinal malrotation - facial anomalies - 'Familial intestinal malrotation - facial anomalies' SubClassOf 'malformation syndrome' - 'Familial intestinal malrotation - facial anomalies' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Familial intestinal malrotation - facial anomalies' SubClassOf 'malformation syndrome' + 'Familial intestinal malrotation - facial anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2456 Label: Familial supernumerary nipples - 'Familial supernumerary nipples' SubClassOf 'morphological anomaly' - 'Familial supernumerary nipples' SubClassOf 'part_of' some 'Excess breast volume or number' + 'Familial supernumerary nipples' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' + 'Familial supernumerary nipples' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2457 Label: Mandibuloacral dysplasia - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Primary osteolysis' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Familial partial lipodystrophy' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mandibuloacral dysplasia' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mandibuloacral dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia' SubClassOf 'malformation syndrome' - 'Mandibuloacral dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial lipodystrophy' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Mandibuloacral dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mandibuloacral dysplasia' SubClassOf 'malformation syndrome' + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mandibuloacral dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mandibuloacral dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93682 Label: Pediatric Castleman disease - 'Pediatric Castleman disease' SubClassOf 'part_of' some 'Castleman disease' - 'Pediatric Castleman disease' SubClassOf 'clinical subtype' + 'Pediatric Castleman disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Castleman disease' + 'Pediatric Castleman disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_178025 Label: Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations - 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'group of disorders' + 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2451 Label: Mucocutaneous venous malformations - 'Mucocutaneous venous malformations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mucocutaneous venous malformations' SubClassOf 'malformation syndrome' - 'Mucocutaneous venous malformations' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Mucocutaneous venous malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mucocutaneous venous malformations' SubClassOf 'part_of' some 'Venous malformation' - 'Mucocutaneous venous malformations' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Mucocutaneous venous malformations' SubClassOf 'malformation syndrome' + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Mucocutaneous venous malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mucocutaneous venous malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Mucocutaneous venous malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_122188 Label: glutamate dehydrogenase 1 - 'glutamate dehydrogenase 1' SubClassOf 'gene' - 'glutamate dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism-hyperammonemia syndrome' + 'glutamate dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutamate dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'glutamate dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperinsulinism-hyperammonemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2452 Label: Vascular malposition - 'Vascular malposition' SubClassOf 'has_prevalence' some 'Unknown' - 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vascular malposition' SubClassOf 'group of disorders' + 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vascular malposition' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Vascular malposition' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_284400 Label: Small cell carcinoma of the bladder - 'Small cell carcinoma of the bladder' SubClassOf 'has_inheritance' some 'sporadic' - 'Small cell carcinoma of the bladder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Small cell carcinoma of the bladder' SubClassOf 'part_of' some 'Rare urinary tract tumor' - 'Small cell carcinoma of the bladder' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Small cell carcinoma of the bladder' SubClassOf 'disease' + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Small cell carcinoma of the bladder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Small cell carcinoma of the bladder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urinary tract tumor' + 'Small cell carcinoma of the bladder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Small cell carcinoma of the bladder' SubClassOf 'disease' + 'Small cell carcinoma of the bladder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_122182 Label: glycine receptor, beta - 'glycine receptor, beta' SubClassOf 'gene' - 'glycine receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'glycine receptor, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperekplexia' + 'glycine receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_178029 Label: Central diabetes insipidus - 'Central diabetes insipidus' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Central diabetes insipidus' SubClassOf 'disease' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Central diabetes insipidus' SubClassOf 'part_of' some 'Pituitary deficiency' - 'Central diabetes insipidus' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Central diabetes insipidus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary deficiency' + 'Central diabetes insipidus' SubClassOf 'disease' + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Central diabetes insipidus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Central diabetes insipidus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_284454 Label: Acute zonal occult outer retinopathy - 'Acute zonal occult outer retinopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Acute zonal occult outer retinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Acute zonal occult outer retinopathy' SubClassOf 'disease' + 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Acute zonal occult outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Acute zonal occult outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute zonal occult outer retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute zonal occult outer retinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251365 Label: Sickle cell - hemoglobin C disease - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - hemoglobin C disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin C disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sickle cell - hemoglobin C disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Sickle cell - hemoglobin C disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell - hemoglobin C disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin C disease' SubClassOf 'disease' + 'Sickle cell - hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_269212 Label: Isolated Dandy-Walker malformation with hydrocephalus - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'clinical subtype' - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'clinical subtype' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_324708 Label: Hereditary cerebral hemorrhage with amyloidosis, Iowa type - 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_252131 Label: Benign peripheral nerve sheath tumor - 'Benign peripheral nerve sheath tumor' SubClassOf 'group of disorders' + 'Benign peripheral nerve sheath tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295229 Label: Congenital genu recurvatum - 'Congenital genu recurvatum' SubClassOf 'clinical subtype' - 'Congenital genu recurvatum' SubClassOf 'part_of' some 'Congenital knee dislocation' + 'Congenital genu recurvatum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital knee dislocation' + 'Congenital genu recurvatum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2400 Label: Peripheral motor neuropathy - dysautonomia - 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'disease' - 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'part_of' some 'Primary orthostatic hypotension' + 'Peripheral motor neuropathy - dysautonomia' SubClassOf 'disease' + 'Peripheral motor neuropathy - dysautonomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary orthostatic hypotension' Class: http://www.orpha.net/ORDO/Orphanet_295227 Label: Congenital elbow dislocation, bilateral - 'Congenital elbow dislocation, bilateral' SubClassOf 'part_of' some 'Congenital elbow dislocation' - 'Congenital elbow dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital elbow dislocation' + 'Congenital elbow dislocation, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2404 Label: Loiasis - 'Loiasis' SubClassOf 'part_of' some 'Filariasis' - 'Loiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Loiasis' SubClassOf 'disease' - 'Loiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Loiasis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Loiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filariasis' + 'Loiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Loiasis' SubClassOf 'disease' + 'Loiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269218 Label: Isolated unilateral hemispheric cerebellar hypoplasia - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'part_of' some 'Malformation of the cerebellar hemispheres' - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_269215 Label: Isolated Dandy-Walker malformation without hydrocephalus - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'clinical subtype' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated Dandy-Walker malformation' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2406 Label: Locked-in syndrome - 'Locked-in syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Locked-in syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Locked-in syndrome' SubClassOf 'disease' - 'Locked-in syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Locked-in syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Locked-in syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Locked-in syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Locked-in syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Locked-in syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Locked-in syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2405 Label: Thickened earlobes - conductive deafness - 'Thickened earlobes - conductive deafness' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Thickened earlobes - conductive deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thickened earlobes - conductive deafness' SubClassOf 'malformation syndrome' - 'Thickened earlobes - conductive deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thickened earlobes - conductive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Thickened earlobes - conductive deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thickened earlobes - conductive deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thickened earlobes - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Thickened earlobes - conductive deafness' SubClassOf 'malformation syndrome' + 'Thickened earlobes - conductive deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_76 Label: Strongyloidiasis - 'Strongyloidiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Strongyloidiasis' SubClassOf 'has_inheritance' some 'sporadic' - 'Strongyloidiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Strongyloidiasis' SubClassOf 'disease' - 'Strongyloidiasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Strongyloidiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Strongyloidiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Strongyloidiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Strongyloidiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77 Label: Aniridia - 'Aniridia' SubClassOf 'group of disorders' - 'Aniridia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf 'group of disorders' + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Aniridia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_295232 Label: Congenital genu flexum - 'Congenital genu flexum' SubClassOf 'part_of' some 'Congenital knee dislocation' - 'Congenital genu flexum' SubClassOf 'clinical subtype' + 'Congenital genu flexum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital knee dislocation' + 'Congenital genu flexum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_74 Label: Angiostrongyliasis - 'Angiostrongyliasis' SubClassOf 'disease' - 'Angiostrongyliasis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Angiostrongyliasis' SubClassOf 'disease' + 'Angiostrongyliasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_72 Label: Angelman syndrome - 'Angelman syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Angelman syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Angelman syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Angelman syndrome' SubClassOf 'malformation syndrome' - 'Angelman syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Angelman syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with epilepsy as a major feature' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly with epilepsy as a major feature' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Angelman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410060) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Angelman syndrome' SubClassOf 'malformation syndrome' + 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Angelman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295237 Label: Congenital patella dislocation, bilateral - 'Congenital patella dislocation, bilateral' SubClassOf 'part_of' some 'Congenital patella dislocation' - 'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital patella dislocation' Class: http://www.orpha.net/ORDO/Orphanet_73 Label: Gorham-Stout disease - 'Gorham-Stout disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Gorham-Stout disease' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Gorham-Stout disease' SubClassOf 'part_of' some 'Complex - combined vascular malformation' - 'Gorham-Stout disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Gorham-Stout disease' SubClassOf 'malformation syndrome' - 'Gorham-Stout disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Gorham-Stout disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex - combined vascular malformation' + 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' + 'Gorham-Stout disease' SubClassOf 'malformation syndrome' + 'Gorham-Stout disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_365563 Label: Primary short bowel syndrome - 'Primary short bowel syndrome' SubClassOf 'group of disorders' + 'Primary short bowel syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_70 Label: Proximal spinal muscular atrophy - 'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal spinal muscular atrophy' SubClassOf 'disease' - 'Proximal spinal muscular atrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Proximal spinal muscular atrophy' SubClassOf 'disease' + 'Proximal spinal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Proximal spinal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Proximal spinal muscular atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_71 Label: Chylomicron retention disease - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Chylomicron retention disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Chylomicron retention disease' SubClassOf 'disease' - 'Chylomicron retention disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Chylomicron retention disease' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' + 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypobetalipoproteinemia' + 'Chylomicron retention disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Chylomicron retention disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Chylomicron retention disease' SubClassOf 'disease' + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Chylomicron retention disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Chylomicron retention disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_295234 Label: Congenital patella dislocation, unilateral - 'Congenital patella dislocation, unilateral' SubClassOf 'part_of' some 'Congenital patella dislocation' - 'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital patella dislocation, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital patella dislocation' + 'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_233186 Label: hemoglobin, gamma G - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobinopathy Toms River' - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, gamma G' SubClassOf 'gene' - 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, gamma G' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobinopathy Toms River' + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, gamma G' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, gamma G' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' Class: http://www.orpha.net/ORDO/Orphanet_251359 Label: Sickle cell - beta-thalassemia disease - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'disease' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sickle cell - beta-thalassemia disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - beta-thalassemia disease' SubClassOf 'disease' + 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - beta-thalassemia disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_284448 Label: CLIPPERS - 'CLIPPERS' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CLIPPERS' SubClassOf 'disease' - 'CLIPPERS' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'CLIPPERS' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CLIPPERS' SubClassOf 'has_inheritance' some 'sporadic' + 'CLIPPERS' SubClassOf 'disease' + 'CLIPPERS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLIPPERS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neuroinflammatory or neuroimmunological disease' + 'CLIPPERS' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CLIPPERS' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_78 Label: Ankylostomiasis - 'Ankylostomiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankylostomiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Ankylostomiasis' SubClassOf 'disease' - 'Ankylostomiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ankylostomiasis' SubClassOf 'has_inheritance' some 'sporadic' + 'Ankylostomiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ankylostomiasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ankylostomiasis' SubClassOf 'disease' + 'Ankylostomiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_233184 Label: hemoglobin, gamma A - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' - 'hemoglobin, gamma A' SubClassOf 'gene' - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' - 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - sickle cell disease' + 'hemoglobin, gamma A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Delta-beta-thalassemia' + 'hemoglobin, gamma A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_79 Label: Congenital alpha2 antiplasmin deficiency - 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'disease' - 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'disease' + 'Congenital alpha2 antiplasmin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_324713 Label: Hereditary cerebral hemorrhage with amyloidosis, Italian type - 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_269200 Label: Retrocerebellar cyst - 'Retrocerebellar cyst' SubClassOf 'morphological anomaly' - 'Retrocerebellar cyst' SubClassOf 'part_of' some 'Cystic malformation of the posterior fossa' - 'Retrocerebellar cyst' SubClassOf 'has_prevalence' some 'Unknown' + 'Retrocerebellar cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cystic malformation of the posterior fossa' + 'Retrocerebellar cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_265147 Label: protease, serine, 56 - 'protease, serine, 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' - 'protease, serine, 56' SubClassOf 'gene' + 'protease, serine, 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated anophthalmia - microphthalmia' + 'protease, serine, 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protease, serine, 56' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_269203 Label: Isolated cerebellar vermis agenesis - 'Isolated cerebellar vermis agenesis' SubClassOf 'morphological anomaly' - 'Isolated cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated cerebellar vermis agenesis' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' + 'Isolated cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar vermis' + 'Isolated cerebellar vermis agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251375 Label: Sickle cell - hemoglobin E disease - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Sickle cell - hemoglobin E disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin E disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sickle cell - hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - hemoglobin E disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin E disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sickle cell - hemoglobin E disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295217 Label: Radio-ulnar synostosis, unilateral - 'Radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' - 'Radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Radio-ulnar synostosis' + 'Radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_284460 Label: Acute annular outer retinopathy - 'Acute annular outer retinopathy' SubClassOf 'disease' - 'Acute annular outer retinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acute annular outer retinopathy' SubClassOf 'part_of' some 'Rare acquired eye disease' - 'Acute annular outer retinopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acute annular outer retinopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Acute annular outer retinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acute annular outer retinopathy' SubClassOf 'disease' + 'Acute annular outer retinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute annular outer retinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Acute annular outer retinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269209 Label: Isolated partial cerebellar vermis agenesis - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'clinical subtype' - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'part_of' some 'Isolated cerebellar vermis agenesis' - 'Isolated partial cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' + 'Isolated partial cerebellar vermis agenesis' SubClassOf 'clinical subtype' + 'Isolated partial cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cerebellar vermis agenesis' Class: http://www.orpha.net/ORDO/Orphanet_295219 Label: Radio-ulnar synostosis, bilateral - 'Radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' - 'Radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Radio-ulnar synostosis' + 'Radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_251370 Label: Sickle cell - hemoglobin D disease - 'Sickle cell - hemoglobin D disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sickle cell - hemoglobin D disease' SubClassOf 'disease' - 'Sickle cell - hemoglobin D disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Sickle cell - hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sickle cell - hemoglobin D disease' SubClassOf 'disease' + 'Sickle cell - hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' + 'Sickle cell - hemoglobin D disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_269206 Label: Isolated total cerebellar vermis agenesis - 'Isolated total cerebellar vermis agenesis' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated total cerebellar vermis agenesis' SubClassOf 'clinical subtype' - 'Isolated total cerebellar vermis agenesis' SubClassOf 'part_of' some 'Isolated cerebellar vermis agenesis' + 'Isolated total cerebellar vermis agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated cerebellar vermis agenesis' + 'Isolated total cerebellar vermis agenesis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_85 Label: Congenital dyserythropoietic anemia - 'Congenital dyserythropoietic anemia' SubClassOf 'group of disorders' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital dyserythropoietic anemia' SubClassOf 'group of disorders' + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital dyserythropoietic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital dyserythropoietic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86 Label: Familial abdominal aortic aneurysm - 'Familial abdominal aortic aneurysm' SubClassOf 'part_of' some 'Rare genetic vascular disease' - 'Familial abdominal aortic aneurysm' SubClassOf 'disease' + 'Familial abdominal aortic aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic vascular disease' + 'Familial abdominal aortic aneurysm' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_87 Label: Apert syndrome - 'Apert syndrome' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Apert syndrome' SubClassOf 'part_of' some 'Acrocephalosyndactyly' - 'Apert syndrome' SubClassOf 'malformation syndrome' - 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Apert syndrome' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Apert syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Apert syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrocephalosyndactyly' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf 'malformation syndrome' + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.47"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Apert syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Apert syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_88 Label: Idiopathic aplastic anemia - 'Idiopathic aplastic anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Idiopathic aplastic anemia' SubClassOf 'part_of' some 'Rare acquired medullar aplasia' - 'Idiopathic aplastic anemia' SubClassOf 'disease' - 'Idiopathic aplastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Idiopathic aplastic anemia' SubClassOf 'disease' + 'Idiopathic aplastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired medullar aplasia' + 'Idiopathic aplastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Idiopathic aplastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_295221 Label: Madelung deformity, unilateral - 'Madelung deformity, unilateral' SubClassOf 'clinical subtype' - 'Madelung deformity, unilateral' SubClassOf 'part_of' some 'Madelung deformity' + 'Madelung deformity, unilateral' SubClassOf 'clinical subtype' + 'Madelung deformity, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Madelung deformity' Class: http://www.orpha.net/ORDO/Orphanet_81 Label: Antisynthetase syndrome - 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Antisynthetase syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Antisynthetase syndrome' SubClassOf 'disease' - 'Antisynthetase syndrome' SubClassOf 'part_of' some 'Idiopathic inflammatory myopathy' - 'Antisynthetase syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Antisynthetase syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Antisynthetase syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Antisynthetase syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 + 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic inflammatory myopathy' + 'Antisynthetase syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_82 Label: Hereditary thrombophilia due to congenital antithrombin deficiency - 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'disease' - 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295223 Label: Madelung deformity, bilateral - 'Madelung deformity, bilateral' SubClassOf 'clinical subtype' - 'Madelung deformity, bilateral' SubClassOf 'part_of' some 'Madelung deformity' + 'Madelung deformity, bilateral' SubClassOf 'clinical subtype' + 'Madelung deformity, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Madelung deformity' Class: http://www.orpha.net/ORDO/Orphanet_83 Label: Antley-Bixler syndrome - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Antley-Bixler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Antley-Bixler syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Antley-Bixler syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Antley-Bixler syndrome' SubClassOf 'malformation syndrome' - 'Antley-Bixler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Antley-Bixler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Antley-Bixler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Antley-Bixler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Antley-Bixler syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84 Label: Fanconi anemia - 'Fanconi anemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Fanconi anemia' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Fanconi anemia' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Fanconi anemia' SubClassOf 'malformation syndrome' - 'Fanconi anemia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fanconi anemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Fanconi anemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Fanconi anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' - 'Fanconi anemia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Fanconi anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fanconi anemia' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Fanconi anemia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Fanconi anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf 'malformation syndrome' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410099) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295225 Label: Congenital elbow dislocation, unilateral - 'Congenital elbow dislocation, unilateral' SubClassOf 'part_of' some 'Congenital elbow dislocation' - 'Congenital elbow dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, unilateral' SubClassOf 'clinical subtype' + 'Congenital elbow dislocation, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital elbow dislocation' Class: http://www.orpha.net/ORDO/Orphanet_324703 Label: Hereditary cerebral hemorrhage with amyloidosis, Piedmont type - 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2420 Label: Primary pulmonary lymphoma - 'Primary pulmonary lymphoma' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Primary pulmonary lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary pulmonary lymphoma' SubClassOf 'disease' - 'Primary pulmonary lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Primary pulmonary lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary pulmonary lymphoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Primary pulmonary lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Primary pulmonary lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary pulmonary lymphoma' SubClassOf 'disease' + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Primary pulmonary lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_284435 Label: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to lactate dehydrogenase deficiency' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to lactate dehydrogenase deficiency' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251383 Label: CK syndrome - 'CK syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'CK syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CK syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'CK syndrome' SubClassOf 'malformation syndrome' - 'CK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CK syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'CK syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'CK syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'CK syndrome' SubClassOf 'malformation syndrome' + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'CK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'CK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'CK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_295209 Label: Humero-radial synostosis, unilateral - 'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype' - 'Humero-radial synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radial synostosis' + 'Humero-radial synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radial synostosis' + 'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2427 Label: Macrocephaly - short stature - paraplegia - 'Macrocephaly - short stature - paraplegia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'malformation syndrome' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'part_of' some 'Syndrome with a Dandy-Walker malformation as major feature' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Macrocephaly - short stature - paraplegia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Macrocephaly - short stature - paraplegia' SubClassOf 'malformation syndrome' + 'Macrocephaly - short stature - paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly - short stature - paraplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Macrocephaly - short stature - paraplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a Dandy-Walker malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_251380 Label: Hereditary persistence of fetal hemoglobin - sickle cell disease - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'part_of' some 'Sickle cell disease associated with an other hemoglobin anomaly' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'disease' - 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'disease' + 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sickle cell disease associated with an other hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295207 Label: Humero-radio-ulnar synostosis, bilateral - 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' - 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis' + 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radio-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295205 Label: Humero-radio-ulnar synostosis, unilateral - 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis' - 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radio-ulnar synostosis' + 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_50 Label: Aicardi syndrome - 'Aicardi syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Aicardi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aicardi syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Aicardi syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Aicardi syndrome' SubClassOf 'disease' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Aicardi syndrome' SubClassOf 'disease' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Aicardi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Aicardi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.95"^^http://www.w3.org/2001/XMLSchema#string) + 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' + 'Aicardi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.07"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295215 Label: Humero-ulnar synostosis, bilateral - 'Humero-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' - 'Humero-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-ulnar synostosis' + 'Humero-ulnar synostosis, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_51 Label: Aicardi-Gouti�res syndrome - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Leukodystrophy' - 'Aicardi-Gouti�res syndrome' SubClassOf 'disease' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aicardi-Gouti�res syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Aicardi-Gouti�res syndrome' SubClassOf 'disease' + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aicardi-Gouti�res syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aicardi-Gouti�res syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295213 Label: Humero-ulnar synostosis, unilateral - 'Humero-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' - 'Humero-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, unilateral' SubClassOf 'clinical subtype' + 'Humero-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-ulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_54 Label: X-linked recessive ocular albinism - 'X-linked recessive ocular albinism' SubClassOf 'part_of' some 'Ocular albinism' - 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked recessive ocular albinism' SubClassOf 'disease' - 'X-linked recessive ocular albinism' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked recessive ocular albinism' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.84"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked recessive ocular albinism' SubClassOf 'disease' + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.58"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked recessive ocular albinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'X-linked recessive ocular albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'X-linked recessive ocular albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295211 Label: Humero-radial synostosis, bilateral - 'Humero-radial synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radial synostosis' - 'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype' + 'Humero-radial synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humero-radial synostosis' Class: http://www.orpha.net/ORDO/Orphanet_55 Label: Oculocutaneous albinism - 'Oculocutaneous albinism' SubClassOf 'group of disorders' - 'Oculocutaneous albinism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculocutaneous albinism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculocutaneous albinism' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Oculocutaneous albinism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculocutaneous albinism' SubClassOf 'group of disorders' + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410196) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "45.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Oculocutaneous albinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_52 Label: Alagille syndrome - 'Alagille syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Alagille syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease' - 'Alagille syndrome' SubClassOf 'malformation syndrome' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Alagille syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Alagille syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alagille syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Alagille syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Alagille syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Alagille syndrome' SubClassOf 'part_of' some 'Genetic biliary tract disease' - 'Alagille syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract disease' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic biliary tract disease' + 'Alagille syndrome' SubClassOf 'malformation syndrome' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' + 'Alagille syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alagille syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Alagille syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_53 Label: Albers-Sch�nberg osteopetrosis - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'malformation syndrome' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Osteopetrosis' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'malformation syndrome' + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Albers-Sch�nberg osteopetrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Albers-Sch�nberg osteopetrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Albers-Sch�nberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' Class: http://www.orpha.net/ORDO/Orphanet_58 Label: Alexander disease - 'Alexander disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Alexander disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alexander disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Alexander disease' SubClassOf 'disease' - 'Alexander disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Alexander disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alexander disease' SubClassOf 'part_of' some 'Leukodystrophy' - 'Alexander disease' SubClassOf 'part_of' some 'Abnormal eye movements' + 'Alexander disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.037"^^http://www.w3.org/2001/XMLSchema#string) + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Alexander disease' SubClassOf 'disease' + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Alexander disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Alexander disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_315787 Label: cancer susceptibility candidate 5 - 'cancer susceptibility candidate 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'cancer susceptibility candidate 5' SubClassOf 'gene' + 'cancer susceptibility candidate 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'cancer susceptibility candidate 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string + 'cancer susceptibility candidate 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_284426 Label: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'part_of' some 'Glycogen storage disease due to lactate dehydrogenase deficiency' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'part_of' some 'Muscular glycogenosis' - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to lactate dehydrogenase deficiency' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular glycogenosis' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_59 Label: Allan-Herndon-Dudley syndrome - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'clinical subtype' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Peripheral hypothyroidism' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Pure or complex X-linked spastic paraplegia' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex X-linked spastic paraplegia' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'clinical subtype' + 'Allan-Herndon-Dudley syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral hypothyroidism' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pelizaeus-Merzbacher-like disease' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_56 Label: Alkaptonuria - 'Alkaptonuria' SubClassOf 'part_of' some 'Pigmented conjunctival lesion' - 'Alkaptonuria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Alkaptonuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Alkaptonuria' SubClassOf 'disease' - 'Alkaptonuria' SubClassOf 'part_of' some 'Other metabolic disease with skin involvement' - 'Alkaptonuria' SubClassOf 'part_of' some 'Metabolic disease with skin involvement' - 'Alkaptonuria' SubClassOf 'part_of' some 'Disorder of tyrosine metabolism' + 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Alkaptonuria' SubClassOf 'disease' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with skin involvement' + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410192) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of tyrosine metabolism' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with skin involvement' + 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pigmented conjunctival lesion' + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) + 'Alkaptonuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alkaptonuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_57 Label: Glycogen storage disease due to aldolase A deficiency - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_324737 Label: SRD5A3-CDG - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SRD5A3-CDG' SubClassOf 'disease' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'SRD5A3-CDG' SubClassOf 'part_of' some 'Rare eye disease due to a differentiation anomaly' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'SRD5A3-CDG' SubClassOf 'disease' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare eye disease due to a differentiation anomaly' + 'SRD5A3-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_324718 Label: Hereditary cerebral hemorrhage with amyloidosis, Flemish type - 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_269221 Label: Isolated bilateral hemispheric cerebellar hypoplasia - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'part_of' some 'Malformation of the cerebellar hemispheres' + 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf 'morphological anomaly' + 'Isolated bilateral hemispheric cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation of the cerebellar hemispheres' Class: http://www.orpha.net/ORDO/Orphanet_252164 Label: Benign schwannoma - 'Benign schwannoma' SubClassOf 'disease' - 'Benign schwannoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Benign schwannoma' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' + 'Benign schwannoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Benign schwannoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' + 'Benign schwannoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_269224 Label: Global cerebellar malformation - 'Global cerebellar malformation' SubClassOf 'group of disorders' + 'Global cerebellar malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2416 Label: Congenital primary lymphedema - 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital primary lymphedema' SubClassOf 'group of disorders' - 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital primary lymphedema' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital primary lymphedema' SubClassOf 'group of disorders' + 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital primary lymphedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital primary lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2415 Label: Lymphatic malformation - 'Lymphatic malformation' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Lymphatic malformation' SubClassOf 'group of disorders' - 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' + 'Lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lymphatic malformation' SubClassOf 'group of disorders' + 'Lymphatic malformation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_269229 Label: Pontine tegmental cap dysplasia - 'Pontine tegmental cap dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontine tegmental cap dysplasia' SubClassOf 'morphological anomaly' - 'Pontine tegmental cap dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Pontine tegmental cap dysplasia' SubClassOf 'part_of' some 'Posterior fossa malformation' - 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pontine tegmental cap dysplasia' SubClassOf 'morphological anomaly' + 'Pontine tegmental cap dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pontine tegmental cap dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Posterior fossa malformation' + 'Pontine tegmental cap dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontine tegmental cap dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2414 Label: Congenital pulmonary lymphangiectasia - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'disease' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Respiratory malformation' - 'Congenital pulmonary lymphangiectasia' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar vascular disorder' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'disease' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital pulmonary lymphangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_251393 Label: Localized junctional epidermolysis bullosa, non-Herlitz type - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa, non-Herlitz type' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa, non-Herlitz type' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'clinical subtype' + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2412 Label: Dislocation of the hip - dysmorphism - 'Dislocation of the hip - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Dislocation of the hip - dysmorphism' SubClassOf 'malformation syndrome' - 'Dislocation of the hip - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dislocation of the hip - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Dislocation of the hip - dysmorphism' SubClassOf 'malformation syndrome' + 'Dislocation of the hip - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2410 Label: Hypergonadotropic hypogonadism - cataract syndrome - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'malformation syndrome' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'malformation syndrome' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_60 Label: Alpha-1-antitrypsin deficiency - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Other metabolic disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "47.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-1-antitrypsin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "17.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295201 Label: Congenital vertical talus, unilateral - 'Congenital vertical talus, unilateral' SubClassOf 'part_of' some 'Congenital vertical talus' - 'Congenital vertical talus, unilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, unilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_61 Label: Alpha-mannosidosis - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Oligosaccharidosis' - 'Alpha-mannosidosis' SubClassOf 'disease' - 'Alpha-mannosidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Alpha-mannosidosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Metabolic disease with corneal opacity' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Cataract associated with a metabolic disease' - 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Developmental anomaly of metabolic origin' - 'Alpha-mannosidosis' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Alpha-mannosidosis' SubClassOf 'disease' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with corneal opacity' + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental anomaly of metabolic origin' + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alpha-mannosidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cataract associated with a metabolic disease' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligosaccharidosis' + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410050) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal storage disease with skeletal involvement' + 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Alpha-mannosidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alpha-mannosidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_225306 Label: nexilin (F actin binding protein) - 'nexilin (F actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'nexilin (F actin binding protein)' SubClassOf 'gene' + 'nexilin (F actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'nexilin (F actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nexilin (F actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_62 Label: Autosomal recessive limb-girdle muscular dystrophy type 2D - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Qualitative or quantitative defects of alpha-sarcoglycan' - 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of alpha-sarcoglycan' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neuromuscular disease with dilated cardiomyopathy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295203 Label: Congenital vertical talus, bilateral - 'Congenital vertical talus, bilateral' SubClassOf 'clinical subtype' - 'Congenital vertical talus, bilateral' SubClassOf 'part_of' some 'Congenital vertical talus' + 'Congenital vertical talus, bilateral' SubClassOf 'clinical subtype' + 'Congenital vertical talus, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vertical talus' Class: http://www.orpha.net/ORDO/Orphanet_63 Label: Alport syndrome - 'Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Alport syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Alport syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Alport syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Alport syndrome' SubClassOf 'part_of' some 'Renal disease with cataract' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alport syndrome' SubClassOf 'part_of' some 'Lens shape anomaly' - 'Alport syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alport syndrome' SubClassOf 'disease' + 'Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens shape anomaly' + 'Alport syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Renal disease with cataract' + 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alport syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2409 Label: Lowry-MacLean syndrome - 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Lowry-MacLean syndrome' SubClassOf 'malformation syndrome' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lowry-MacLean syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lowry-MacLean syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Lowry-MacLean syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Lowry-MacLean syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lowry-MacLean syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lowry-MacLean syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Lowry-MacLean syndrome' SubClassOf 'malformation syndrome' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_64 Label: Alstr�m syndrome - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Alstr�m syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Alstr�m syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus type 2' - 'Alstr�m syndrome' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alstr�m syndrome' SubClassOf 'disease' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Alstr�m syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Alstr�m syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alstr�m syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare diabetes mellitus type 2' + 'Alstr�m syndrome' SubClassOf 'disease' + 'Alstr�m syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_65 Label: Leber congenital amaurosis - 'Leber congenital amaurosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Syndromic hyperopia' - 'Leber congenital amaurosis' SubClassOf 'disease' + 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber congenital amaurosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic hyperopia' + 'Leber congenital amaurosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified primitive or secondary maculopathy' + 'Leber congenital amaurosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Leber congenital amaurosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leber congenital amaurosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2407 Label: LOC syndrome - 'LOC syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'LOC syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LOC syndrome' SubClassOf 'part_of' some 'Hereditary epidermolysis bullosa associated with ocular features' - 'LOC syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'LOC syndrome' SubClassOf 'part_of' some 'Respiratory malformation' - 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'LOC syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'LOC syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'LOC syndrome' SubClassOf 'disease' - 'LOC syndrome' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'LOC syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary epidermolysis bullosa associated with ocular features' + 'LOC syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'LOC syndrome' SubClassOf 'disease' + 'LOC syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2408 Label: Lowe-Kohn-Cohen syndrome - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Lowe-Kohn-Cohen syndrome' SubClassOf 'malformation syndrome' + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Lowe-Kohn-Cohen syndrome' SubClassOf 'malformation syndrome' + 'Lowe-Kohn-Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_67 Label: Amoebiasis due to Entamoeba histolytica - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_inheritance' some 'sporadic' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_prevalence' some 'Unknown' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'disease' - 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amoebiasis due to Entamoeba histolytica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Amoebiasis due to Entamoeba histolytica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_324723 Label: Hereditary cerebral hemorrhage with amyloidosis, Arctic type - 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_68 Label: Amoebiasis due to free-living amoebae - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Amoebiasis due to free-living amoebae' SubClassOf 'disease' - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Amoebiasis due to free-living amoebae' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Amoebiasis due to free-living amoebae' SubClassOf 'has_inheritance' some 'sporadic' + 'Amoebiasis due to free-living amoebae' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amoebiasis due to free-living amoebae' SubClassOf 'disease' + 'Amoebiasis due to free-living amoebae' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Amoebiasis due to free-living amoebae' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Amoebiasis due to free-living amoebae' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_69 Label: Amyloidosis - 'Amyloidosis' SubClassOf 'group of disorders' + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Amyloidosis' SubClassOf 'group of disorders' + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_56304 Label: Atelosteogenesis type II - 'Atelosteogenesis type II' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Atelosteogenesis type II' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Atelosteogenesis type II' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_56305 Label: Atelosteogenesis type III - 'Atelosteogenesis type III' SubClassOf 'malformation syndrome' - 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some 'sporadic' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Atelosteogenesis type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Pierre Robin syndrome associated with bone disease' - 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Atelosteogenesis type III' SubClassOf 'part_of' some 'Filamin-related bone disorder' + 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Atelosteogenesis type III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Atelosteogenesis type III' SubClassOf 'malformation syndrome' + 'Atelosteogenesis type III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pierre Robin syndrome associated with bone disease' + 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Atelosteogenesis type III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Filamin-related bone disorder' Class: http://www.orpha.net/ORDO/Orphanet_87277 Label: Rare intellectual disability - 'Rare intellectual disability' SubClassOf 'group of disorders' + 'Rare intellectual disability' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_180157 Label: Longitudinal vaginal septum - 'Longitudinal vaginal septum' SubClassOf 'part_of' some 'Septate vagina' - 'Longitudinal vaginal septum' SubClassOf 'clinical subtype' + 'Longitudinal vaginal septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate vagina' + 'Longitudinal vaginal septum' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_225334 Label: ribosomal protein S10 - 'ribosomal protein S10' SubClassOf 'gene' - 'ribosomal protein S10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein S10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_39 Label: Acromelanosis - 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromelanosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Acromelanosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromelanosis' SubClassOf 'disease' + 'Acromelanosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Acromelanosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromelanosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acromelanosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acromelanosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225332 Label: RAB39B, member RAS oncogene family - 'RAB39B, member RAS oncogene family' SubClassOf 'gene' - 'RAB39B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'RAB39B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_38 Label: Acrokeratoelastoidosis of Costa - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Marginal papular palmoplantar keratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder with increased elastic tissue' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_prevalence' some 'Unknown' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'part_of' some 'Acrokeratoderma' - 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some 'sporadic' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired dermis elastic tissue disorder with increased elastic tissue' + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acrokeratoelastoidosis of Costa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrokeratoderma' + 'Acrokeratoelastoidosis of Costa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal papular palmoplantar keratoderma' Class: http://www.orpha.net/ORDO/Orphanet_180160 Label: Transverse vaginal septum - 'Transverse vaginal septum' SubClassOf 'part_of' some 'Septate vagina' - 'Transverse vaginal septum' SubClassOf 'clinical subtype' + 'Transverse vaginal septum' SubClassOf 'clinical subtype' + 'Transverse vaginal septum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Septate vagina' Class: http://www.orpha.net/ORDO/Orphanet_37 Label: Acrodermatitis enteropathica - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Disorder of zinc metabolism' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' - 'Acrodermatitis enteropathica' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Metabolic disease with skin involvement' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Acrodermatitis enteropathica' SubClassOf 'disease' - 'Acrodermatitis enteropathica' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acrodermatitis enteropathica' SubClassOf 'part_of' some 'Other metabolic disease with skin involvement' - 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other metabolic disease with skin involvement' + 'Acrodermatitis enteropathica' SubClassOf 'disease' + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Acrodermatitis enteropathica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acrodermatitis enteropathica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Acrodermatitis enteropathica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrodermatitis enteropathica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of zinc metabolism' Class: http://www.orpha.net/ORDO/Orphanet_36 Label: Acrocallosal syndrome - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Acrocallosal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acrocallosal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acrocallosal syndrome' SubClassOf 'malformation syndrome' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Acrocallosal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acrocallosal syndrome' SubClassOf 'malformation syndrome' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Acrocallosal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_35 Label: Propionic acidemia - 'Propionic acidemia' SubClassOf 'disease' - 'Propionic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Propionic acidemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Propionic acidemia' SubClassOf 'part_of' some 'Classic organic aciduria' - 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Propionic acidemia' SubClassOf 'disease' + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Propionic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Propionic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "100.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410186) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.23"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Propionic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_180163 Label: Rare breast malformation - 'Rare breast malformation' SubClassOf 'group of disorders' + 'Rare breast malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33 Label: Isovaleric acidemia - 'Isovaleric acidemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Isovaleric acidemia' SubClassOf 'disease' - 'Isovaleric acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isovaleric acidemia' SubClassOf 'part_of' some 'Classic organic aciduria' + 'Isovaleric acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf 'disease' + 'Isovaleric acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.55"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.28"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isovaleric acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isovaleric acidemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.53"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_32 Label: Glutathione synthetase deficiency - 'Glutathione synthetase deficiency' SubClassOf 'disease' - 'Glutathione synthetase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' - 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' - 'Glutathione synthetase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glutathione synthetase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glutathione synthetase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutathione synthetase deficiency' SubClassOf 'disease' + 'Glutathione synthetase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glutathione synthetase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of the gamma-glutamyl cycle' Class: http://www.orpha.net/ORDO/Orphanet_31 Label: Oxoglutaricaciduria - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Oxoglutaricaciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oxoglutaricaciduria' SubClassOf 'disease' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Oxoglutaricaciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Oxoglutaricaciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Oxoglutaricaciduria' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Oxoglutaricaciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oxoglutaricaciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oxoglutaricaciduria' SubClassOf 'disease' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' + 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_30 Label: Hereditary orotic aciduria - 'Hereditary orotic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary orotic aciduria' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Hereditary orotic aciduria' SubClassOf 'part_of' some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' - 'Hereditary orotic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary orotic aciduria' SubClassOf 'disease' - 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary orotic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' + 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary orotic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary orotic aciduria' SubClassOf 'disease' + 'Hereditary orotic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary orotic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_225339 Label: tetraspanin 12 - 'tetraspanin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'tetraspanin 12' SubClassOf 'gene' + 'tetraspanin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tetraspanin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'tetraspanin 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q31.31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295279 Label: centrosomal protein 135kDa - 'centrosomal protein 135kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'centrosomal protein 135kDa' SubClassOf 'gene' + 'centrosomal protein 135kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 135kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 135kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_225337 Label: ribosomal protein S26 - 'ribosomal protein S26' SubClassOf 'gene' - 'ribosomal protein S26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' + 'ribosomal protein S26' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein S26' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_267102 Label: cytochrome c oxidase assembly factor 5 - 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'cytochrome c oxidase assembly factor 5' SubClassOf 'gene' - 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' + 'cytochrome c oxidase assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome c oxidase assembly factor 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly factor 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_49566 Label: Purpura fulminans - 'Purpura fulminans' SubClassOf 'disease' - 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Purpura fulminans' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Purpura fulminans' SubClassOf 'disease' + 'Purpura fulminans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_180170 Label: Excess breast volume or number - 'Excess breast volume or number' SubClassOf 'group of disorders' + 'Excess breast volume or number' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_49 Label: Penile agenesis - 'Penile agenesis' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Penile agenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Penile agenesis' SubClassOf 'part_of' some '46,XY disorder of sex development' - 'Penile agenesis' SubClassOf 'morphological anomaly' + 'Penile agenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of sex development' + 'Penile agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Penile agenesis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_180173 Label: Deficient breast volume or number - 'Deficient breast volume or number' SubClassOf 'group of disorders' + 'Deficient breast volume or number' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_46 Label: Adenylosuccinate lyase deficiency - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Rare disease with autism' - 'Adenylosuccinate lyase deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Adenylosuccinate lyase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Adenylosuccinate lyase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adenylosuccinate lyase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic neurometabolic disease with non-X-linked intellectual disability' + 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_45 Label: Adenosine monophosphate deaminase deficiency - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' + 'Adenosine monophosphate deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_48 Label: Congenital bilateral absence of vas deferens - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Male infertility due to obstructive azoospermia' - 'Congenital bilateral absence of vas deferens' SubClassOf 'morphological anomaly' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Genetic urogenital tract malformation' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Male infertility due to obstructive azoospermia of genetic origin' - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital bilateral absence of vas deferens' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to obstructive azoospermia of genetic origin' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic urogenital tract malformation of male' + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital bilateral absence of vas deferens' SubClassOf 'morphological anomaly' + 'Congenital bilateral absence of vas deferens' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Congenital bilateral absence of vas deferens' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "50.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic urogenital tract malformation' + 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to obstructive azoospermia' Class: http://www.orpha.net/ORDO/Orphanet_180176 Label: Familial juvenile hypertrophy of the breast - 'Familial juvenile hypertrophy of the breast' SubClassOf 'has_inheritance' some 'sporadic' - 'Familial juvenile hypertrophy of the breast' SubClassOf 'part_of' some 'Excess breast volume or number' - 'Familial juvenile hypertrophy of the breast' SubClassOf 'morphological anomaly' + 'Familial juvenile hypertrophy of the breast' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Familial juvenile hypertrophy of the breast' SubClassOf 'morphological anomaly' + 'Familial juvenile hypertrophy of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_199894 Label: cadherin 15, type 1, M-cadherin (myotubule) - 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'gene' + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cadherin 15, type 1, M-cadherin (myotubule)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_47 Label: X-linked agammaglobulinemia - 'X-linked agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked agammaglobulinemia' SubClassOf 'part_of' some 'Isolated agammaglobulinemia' - 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some 'sporadic' - 'X-linked agammaglobulinemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked agammaglobulinemia' SubClassOf 'clinical subtype' + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.22"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated agammaglobulinemia' + 'X-linked agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410222) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410168) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410193) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410091) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.16"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.18"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410188) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.09"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.21"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410122) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410047) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410109) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'X-linked agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410013) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked agammaglobulinemia' SubClassOf 'clinical subtype' + 'X-linked agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.26"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_42 Label: Medium chain acyl-CoA dehydrogenase deficiency - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Acyl-CoA dehydrogenase deficiency' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "11.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "12.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "16.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "7.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.14"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410147) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "15.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acyl-CoA dehydrogenase deficiency' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.96"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_225329 Label: glutaredoxin, cysteine rich 1 - 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'glutaredoxin, cysteine rich 1' SubClassOf 'gene' + 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glutaredoxin, cysteine rich 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_41 Label: Dyschromatosis symmetrica hereditaria - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_prevalence' some 'Unknown' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'disease' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dyschromatosis symmetrica hereditaria' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'disease' + 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dyschromatosis symmetrica hereditaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_44 Label: Neonatal adrenoleukodystrophy - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' - 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' - 'Neonatal adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Neonatal adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neonatal adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_199890 Label: gamma-aminobutyric acid (GABA) A receptor, alpha 3 - 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, alpha 3' SubClassOf 'Major susceptibility factor in' some 'Thyrotoxic periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_43 Label: X-linked adrenoleukodystrophy - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Metabolic disease with dementia' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal beta-oxidation disorder' - 'X-linked adrenoleukodystrophy' SubClassOf 'disease' - 'X-linked adrenoleukodystrophy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Peroxisomal disease with epilepsy' + 'X-linked adrenoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal disease with epilepsy' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with dementia' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.4"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409985) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.8"^^http://www.w3.org/2001/XMLSchema#string) + 'X-linked adrenoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'X-linked adrenoleukodystrophy' SubClassOf 'disease' + 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peroxisomal beta-oxidation disorder' Class: http://www.orpha.net/ORDO/Orphanet_40 Label: Acromesomelic dysplasia, Maroteaux type - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'malformation syndrome' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'part_of' some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_252117 Label: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) - 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'gene' - 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q27-q28"^^http://www.w3.org/2001/XMLSchema#string + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial-ulnar-renal syndrome' Class: http://www.orpha.net/ORDO/Orphanet_280403 Label: Familial omphalocele syndrome with facial dysmorphism - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'malformation syndrome' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'part_of' some 'Rare genetic developmental defect during embryogenesis' - 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'malformation syndrome' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic developmental defect during embryogenesis' + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic diaphragmatic or abdominal wall malformation' Class: http://www.orpha.net/ORDO/Orphanet_280406 Label: Familial steroid-resistant nephrotic syndrome with sensorineural deafness - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'disease' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280400 Label: Inherited prion disease - 'Inherited prion disease' SubClassOf 'group of disorders' + 'Inherited prion disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_200717 Label: solute carrier family 25, member 38 - 'solute carrier family 25, member 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive sideroblastic anemia' - 'solute carrier family 25, member 38' SubClassOf 'gene' + 'solute carrier family 25, member 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive sideroblastic anemia' + 'solute carrier family 25, member 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 25, member 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_280409 Label: coenzyme Q6 monooxygenase - 'coenzyme Q6 monooxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' - 'coenzyme Q6 monooxygenase' SubClassOf 'gene' + 'coenzyme Q6 monooxygenase' SubClassOf 'Major susceptibility factor in' some 'Neurofibromatosis type 3' + 'coenzyme Q6 monooxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'coenzyme Q6 monooxygenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' + 'coenzyme Q6 monooxygenase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_15 Label: Achondroplasia - 'Achondroplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achondroplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Achondroplasia' SubClassOf 'disease' - 'Achondroplasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Achondroplasia' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Achondroplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Achondroplasia' SubClassOf 'disease' + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Achondroplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Achondroplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' Class: http://www.orpha.net/ORDO/Orphanet_14 Label: Abetalipoproteinemia - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' - 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Constitutional hemolytic anemia due to acanthocytosis' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Autosomal recessive metabolic cerebellar ataxia' - 'Abetalipoproteinemia' SubClassOf 'disease' - 'Abetalipoproteinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Abetalipoproteinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Metabolic disease with pigmentary retinitis' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with pigmentary retinitis' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' + 'Abetalipoproteinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive metabolic cerebellar ataxia' + 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional hemolytic anemia due to acanthocytosis' + 'Abetalipoproteinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Abetalipoproteinemia' SubClassOf 'disease' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypobetalipoproteinemia' + 'Abetalipoproteinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_180188 Label: Isolated breast aplasia - 'Isolated breast aplasia' SubClassOf 'part_of' some 'Deficient breast volume or number' - 'Isolated breast aplasia' SubClassOf 'morphological anomaly' + 'Isolated breast aplasia' SubClassOf 'morphological anomaly' + 'Isolated breast aplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Deficient breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_13 Label: 6-pyruvoyl-tetrahydropterin synthase deficiency - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'part_of' some 'Hyperphenylalaninemia' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperphenylalaninemia' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_225351 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial rhabdoid tumor' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Small cell carcinoma of the ovary' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'gene' - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial rhabdoid tumor' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Small cell carcinoma of the ovary' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' Class: http://www.orpha.net/ORDO/Orphanet_19 Label: 2-hydroxyglutaric aciduria - '2-hydroxyglutaric aciduria' SubClassOf 'group of disorders' - '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal dominant' - '2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some 'Unknown' + '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '2-hydroxyglutaric aciduria' SubClassOf 'group of disorders' + '2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_233165 Label: CCAAT/enhancer binding protein (C/EBP), alpha - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'gene' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' - 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with CEBPA somatic mutations' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'CCAAT/enhancer binding protein (C/EBP), alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with CEBPA somatic mutations' Class: http://www.orpha.net/ORDO/Orphanet_18 Label: Distal renal tubular acidosis - 'Distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Distal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Distal renal tubular acidosis' SubClassOf 'disease' + 'Distal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Distal renal tubular acidosis' SubClassOf 'disease' + 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Distal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_17 Label: Fatal infantile lactic acidosis with methylmalonic aciduria - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_16 Label: Blue cone monochromatism - 'Blue cone monochromatism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Blue cone monochromatism' SubClassOf 'part_of' some 'Color-vision disease' - 'Blue cone monochromatism' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Blue cone monochromatism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blue cone monochromatism' SubClassOf 'disease' + 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Color-vision disease' + 'Blue cone monochromatism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Blue cone monochromatism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Blue cone monochromatism' SubClassOf 'disease' + 'Blue cone monochromatism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Blue cone monochromatism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_180182 Label: Supernumerary breasts - 'Supernumerary breasts' SubClassOf 'morphological anomaly' - 'Supernumerary breasts' SubClassOf 'part_of' some 'Excess breast volume or number' + 'Supernumerary breasts' SubClassOf 'morphological anomaly' + 'Supernumerary breasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excess breast volume or number' Class: http://www.orpha.net/ORDO/Orphanet_11 Label: Pentasomy X - 'Pentasomy X' SubClassOf 'has_prevalence' some 'Unknown' - 'Pentasomy X' SubClassOf 'part_of' some 'Polysomy of X chromosome' - 'Pentasomy X' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pentasomy X' SubClassOf 'malformation syndrome' + 'Pentasomy X' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polysomy of X chromosome' + 'Pentasomy X' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_10 Label: 48,XXYY syndrome - '48,XXYY syndrome' SubClassOf 'has_prevalence' some 'Unknown' - '48,XXYY syndrome' SubClassOf 'part_of' some 'X and Y chromosomal anomaly' - '48,XXYY syndrome' SubClassOf 'malformation syndrome' - '48,XXYY syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Sex chromosome disorder of sex development' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '48,XXYY syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + '48,XXYY syndrome' SubClassOf 'malformation syndrome' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X and Y chromosomal anomaly' + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '48,XXYY syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.9"^^http://www.w3.org/2001/XMLSchema#string) + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '48,XXYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sex chromosome disorder of sex development' + '48,XXYY syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + '48,XXYY syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_325706 Label: Genetic 46,XY disorder of sex development - 'Genetic 46,XY disorder of sex development' SubClassOf 'group of disorders' + 'Genetic 46,XY disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_252128 Label: Malignant perineurioma - 'Malignant perineurioma' SubClassOf 'disease' - 'Malignant perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Malignant perineurioma' SubClassOf 'disease' + 'Malignant perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_295239 Label: Macrodactyly of fingers, unilateral - 'Macrodactyly of fingers, unilateral' SubClassOf 'part_of' some 'Macrodactyly of fingers' - 'Macrodactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_265161 Label: forkhead box D3 - 'forkhead box D3' SubClassOf 'gene' - 'forkhead box D3' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'forkhead box D3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box D3' SubClassOf 'Major susceptibility factor in' some 'Vitiligo-associated autoimmune disease' + 'forkhead box D3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_24 Label: Fumaric aciduria - 'Fumaric aciduria' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Fumaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'Fumaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fumaric aciduria' SubClassOf 'part_of' some 'Tricarboxylic acid cycle disorder' - 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fumaric aciduria' SubClassOf 'disease' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tricarboxylic acid cycle disorder' + 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fumaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'Fumaric aciduria' SubClassOf 'disease' + 'Fumaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fumaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_23 Label: Argininosuccinic aciduria - 'Argininosuccinic aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Argininosuccinic aciduria' SubClassOf 'disease' - 'Argininosuccinic aciduria' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Argininosuccinic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Argininosuccinic aciduria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410065) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.46"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf 'disease' + 'Argininosuccinic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Argininosuccinic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Argininosuccinic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Argininosuccinic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_26 Label: Methylmalonic acidemia with homocystinuria - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_prevalence' some 'Unknown' - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Classic organic aciduria' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_180199 Label: Rare non-malformative gynecologic or obstetric disease - 'Rare non-malformative gynecologic or obstetric disease' SubClassOf 'group of disorders' + 'Rare non-malformative gynecologic or obstetric disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_25 Label: Glutaryl-CoA dehydrogenase deficiency - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.48"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.85"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "333.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral organic aciduria' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_28 Label: Vitamin B12-responsive methylmalonic acidemia - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Disorder of cobalamin metabolism and transport' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Methylmalonic acidemia without homocystinuria' - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of cobalamin metabolism and transport' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_225343 Label: SH3 and PX domains 2B - 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dermato-cardio-skeletal syndrome, Borrone type' - 'SH3 and PX domains 2B' SubClassOf 'gene' - 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frank-Ter Haar syndrome' + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dermato-cardio-skeletal syndrome, Borrone type' + 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frank-Ter Haar syndrome' + 'SH3 and PX domains 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_27 Label: Vitamin B12-unresponsive methylmalonic acidemia - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'part_of' some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Methylmalonic acidemia without homocystinuria' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_180193 Label: Syndromic breast hypoplasia/aplasia - 'Syndromic breast hypoplasia/aplasia' SubClassOf 'group of disorders' + 'Syndromic breast hypoplasia/aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_29 Label: Mevalonic aciduria - 'Mevalonic aciduria' SubClassOf 'disease' - 'Mevalonic aciduria' SubClassOf 'part_of' some 'Metabolic disease with cataract' - 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mevalonic aciduria' SubClassOf 'part_of' some 'Mevalonate kinase deficiency' - 'Mevalonic aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mevalonic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Mevalonic aciduria' SubClassOf 'disease' + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mevalonate kinase deficiency' + 'Mevalonic aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with cataract' + 'Mevalonic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mevalonic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295245 Label: Macrodactyly of toes, bilateral - 'Macrodactyly of toes, bilateral' SubClassOf 'clinical subtype' - 'Macrodactyly of toes, bilateral' SubClassOf 'part_of' some 'Macrodactyly of toes' + 'Macrodactyly of toes, bilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_295241 Label: Macrodactyly of fingers, bilateral - 'Macrodactyly of fingers, bilateral' SubClassOf 'clinical subtype' - 'Macrodactyly of fingers, bilateral' SubClassOf 'part_of' some 'Macrodactyly of fingers' + 'Macrodactyly of fingers, bilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of fingers, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_20 Label: 3-hydroxy-3-methylglutaric aciduria - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'part_of' some 'Classic organic aciduria' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_prevalence' some 'Unknown' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of ketone body metabolism' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.97"^^http://www.w3.org/2001/XMLSchema#string) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) + '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic organic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_295243 Label: Macrodactyly of toes, unilateral - 'Macrodactyly of toes, unilateral' SubClassOf 'part_of' some 'Macrodactyly of toes' - 'Macrodactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, unilateral' SubClassOf 'clinical subtype' + 'Macrodactyly of toes, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrodactyly of toes' Class: http://www.orpha.net/ORDO/Orphanet_22 Label: 4-hydroxybutyric aciduria - '4-hydroxybutyric aciduria' SubClassOf 'disease' - '4-hydroxybutyric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' - '4-hydroxybutyric aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '4-hydroxybutyric aciduria' SubClassOf 'has_prevalence' some 'Unknown' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' - '4-hydroxybutyric aciduria' SubClassOf 'part_of' some 'Disorder of gamma-aminobutyric acid metabolism' + '4-hydroxybutyric aciduria' SubClassOf 'disease' + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + '4-hydroxybutyric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic neurotransmission anomaly with epilepsy' + '4-hydroxybutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of gamma-aminobutyric acid metabolism' + '4-hydroxybutyric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_306547 Label: Porencephaly-microcephaly-bilateral congenital cataract syndrome - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306542 Label: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119559 Label: aryl hydrocarbon receptor interacting protein-like 1 - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'gene' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262914 Label: Partial duplication of the long arm of chromosome 10 - 'Partial duplication of the long arm of chromosome 10' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 10' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_48162 Label: Lewis-Sumner syndrome - 'Lewis-Sumner syndrome' SubClassOf 'part_of' some 'Chronic inflammatory demyelinating polyneuropathy' - 'Lewis-Sumner syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Lewis-Sumner syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Lewis-Sumner syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Lewis-Sumner syndrome' SubClassOf 'clinical subtype' + 'Lewis-Sumner syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Lewis-Sumner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic inflammatory demyelinating polyneuropathy' + 'Lewis-Sumner syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Lewis-Sumner syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Lewis-Sumner syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251615 Label: Pilomyxoid astrocytoma - 'Pilomyxoid astrocytoma' SubClassOf 'part_of' some 'Pilocytic astrocytoma' - 'Pilomyxoid astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pilomyxoid astrocytoma' SubClassOf 'histopathological subtype' - 'Pilomyxoid astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Pilomyxoid astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pilomyxoid astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pilomyxoid astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pilocytic astrocytoma' + 'Pilomyxoid astrocytoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_251612 Label: Pilocytic astrocytoma - 'Pilocytic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pilocytic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pilocytic astrocytoma' SubClassOf 'disease' - 'Pilocytic astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Pilocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' + 'Pilocytic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pilocytic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pilocytic astrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_356847 Label: CD27 molecule - 'CD27 molecule' SubClassOf 'gene' - 'CD27 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' + 'CD27 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD27 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'CD27 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_311350 Label: immediate early response 3 interacting protein 1 - 'immediate early response 3 interacting protein 1' SubClassOf 'gene' - 'immediate early response 3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' + 'immediate early response 3 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immediate early response 3 interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q12"^^http://www.w3.org/2001/XMLSchema#string + 'immediate early response 3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251618 Label: Subependymal giant cell astrocytoma - 'Subependymal giant cell astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Subependymal giant cell astrocytoma' SubClassOf 'disease' + 'Subependymal giant cell astrocytoma' SubClassOf 'disease' + 'Subependymal giant cell astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_119554 Label: activation-induced cytidine deaminase - 'activation-induced cytidine deaminase' SubClassOf 'gene' - 'activation-induced cytidine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 2' + 'activation-induced cytidine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string + 'activation-induced cytidine deaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyper-IgM syndrome type 2' + 'activation-induced cytidine deaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213589 Label: Malignant mixed epithelial and mesenchymal tumor of the corpus uteri - 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' SubClassOf 'group of disorders' + 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91131 Label: DK1-CDG - 'DK1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'DK1-CDG' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with other associated signs' - 'DK1-CDG' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'DK1-CDG' SubClassOf 'disease' - 'DK1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with dilated cardiomyopathy' - 'DK1-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'DK1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DK1-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DK1-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DK1-CDG' SubClassOf 'disease' + 'DK1-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with other associated signs' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'DK1-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_91132 Label: Ichthyosis-hypotrichosis syndrome - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'disease' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'part_of' some 'Alopecia' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'disease' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent hair abnormalities' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Ichthyosis-hypotrichosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_286593 Label: complement factor H-related 3 - 'complement factor H-related 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' - 'complement factor H-related 3' SubClassOf 'gene' + 'complement factor H-related 3' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' + 'complement factor H-related 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor H-related 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_91130 Label: Cardiomyopathy - hypotonia - lactic acidosis - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial substrate carrier disorder' Class: http://www.orpha.net/ORDO/Orphanet_329284 Label: Beta-propeller protein-associated neurodegeneration - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'disease' + 'Beta-propeller protein-associated neurodegeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'disease' + 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Beta-propeller protein-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_285488 Label: ribosomal protein L21 - 'ribosomal protein L21' SubClassOf 'gene' - 'ribosomal protein L21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' + 'ribosomal protein L21' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ribosomal protein L21' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'ribosomal protein L21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex' Class: http://www.orpha.net/ORDO/Orphanet_90020 Label: Amyotrophic lateral sclerosis-parkinsonism-dementia complex - 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease' + 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281139 Label: Annular epidermolytic ichthyosis - 'Annular epidermolytic ichthyosis' SubClassOf 'disease' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Annular epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis' - 'Annular epidermolytic ichthyosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Annular epidermolytic ichthyosis' SubClassOf 'disease' + 'Annular epidermolytic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Annular epidermolytic ichthyosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Annular epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Keratinopathic ichthyosis' + 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Annular epidermolytic ichthyosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_90021 Label: Radiation myelitis - 'Radiation myelitis' SubClassOf 'part_of' some 'Medullar disease' - 'Radiation myelitis' SubClassOf 'disease' + 'Radiation myelitis' SubClassOf 'disease' + 'Radiation myelitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_293925 Label: Lethal occipital encephalocele-skeletal dysplasia syndrome - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'malformation syndrome' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'malformation syndrome' + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_90026 Label: Primary erythermalgia - 'Primary erythermalgia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary erythermalgia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Primary erythermalgia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary erythermalgia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary erythermalgia' SubClassOf 'disease' - 'Primary erythermalgia' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Primary erythermalgia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary erythermalgia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary erythermalgia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Primary erythermalgia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Primary erythermalgia' SubClassOf 'disease' + 'Primary erythermalgia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306558 Label: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_90023 Label: Primary immunodeficiency syndrome due to p14 deficiency - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'disease' - 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'disease' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' + 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_311367 Label: dystonia 21, torsion (autosomal dominant) - 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT21 type' - 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'gene' + 'dystonia 21, torsion (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary dystonia, DYT21 type' + 'dystonia 21, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q14.3-q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'dystonia 21, torsion (autosomal dominant)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_306553 Label: Myospherulosis - 'Myospherulosis' SubClassOf 'part_of' some 'Rare abdominal surgical disease' - 'Myospherulosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Myospherulosis' SubClassOf 'part_of' some 'Rare maxillo-facial surgical disease' - 'Myospherulosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myospherulosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Myospherulosis' SubClassOf 'disease' + 'Myospherulosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myospherulosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' + 'Myospherulosis' SubClassOf 'disease' + 'Myospherulosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare maxillo-facial surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_90025 Label: Syndactyly - 'Syndactyly' SubClassOf 'group of disorders' + 'Syndactyly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90024 Label: Deafness with labyrinthine aplasia, microtia, and microdontia - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'malformation syndrome' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'malformation syndrome' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_91138 Label: Cryoglobulinemic vasculitis - 'Cryoglobulinemic vasculitis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cryoglobulinemic vasculitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' - 'Cryoglobulinemic vasculitis' SubClassOf 'disease' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some 'Immune complex mediated vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Cryoglobulinemic vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Cryoglobulinemic vasculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune complex mediated vasculitis' + 'Cryoglobulinemic vasculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251623 Label: Pituicytoma - 'Pituicytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Pituicytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pituicytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pituicytoma' SubClassOf 'disease' + 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' + 'Pituicytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pituicytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pituicytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262905 Label: Partial trisomy of the long arm of chromosome 9 - 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91137 Label: Immunotactoid or fibrillary glomerulopathy - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'group of disorders' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'group of disorders' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119567 Label: adenylate kinase 1 - 'adenylate kinase 1' SubClassOf 'gene' - 'adenylate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to adenylate kinase deficiency' + 'adenylate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'adenylate kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylate kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemolytic anemia due to adenylate kinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_91139 Label: Simple cryoglobulinemia - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Simple cryoglobulinemia' SubClassOf 'disease' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'Simple cryoglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Simple cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral neuropathy associated with monoclonal gammopathy' + 'Simple cryoglobulinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119569 Label: aminolevulinate dehydratase - 'aminolevulinate dehydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria due to ALA dehydratase deficiency' - 'aminolevulinate dehydratase' SubClassOf 'gene' + 'aminolevulinate dehydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q32"^^http://www.w3.org/2001/XMLSchema#string + 'aminolevulinate dehydratase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminolevulinate dehydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Porphyria due to ALA dehydratase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_251627 Label: Oligodendroglioma - 'Oligodendroglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Oligodendroglioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Oligodendroglioma' SubClassOf 'part_of' some 'Oligodendroglial tumor' - 'Oligodendroglioma' SubClassOf 'disease' + 'Oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligodendroglial tumor' + 'Oligodendroglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Oligodendroglioma' SubClassOf 'disease' + 'Oligodendroglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_91133 Label: Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'malformation syndrome' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'malformation syndrome' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_91136 Label: Monoclonal Ig light chain-associated Fanconi syndrome - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'disease' - 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'disease' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disorder with renal involvement' + 'Monoclonal Ig light chain-associated Fanconi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_325132 Label: mitochondrial ribosomal protein L3 - 'mitochondrial ribosomal protein L3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 9' - 'mitochondrial ribosomal protein L3' SubClassOf 'gene' + 'mitochondrial ribosomal protein L3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21-q23"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial ribosomal protein L3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial ribosomal protein L3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 9' Class: http://www.orpha.net/ORDO/Orphanet_91135 Label: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'part_of' some 'Genetic dermis elastic tissue disorder' - 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis elastic tissue disorder' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease' + 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_91140 Label: Unclassified juvenile idiopathic arthritis - 'Unclassified juvenile idiopathic arthritis' SubClassOf 'group of disorders' + 'Unclassified juvenile idiopathic arthritis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285499 Label: UBA domain containing 2 - 'UBA domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' - 'UBA domain containing 2' SubClassOf 'gene' + 'UBA domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q32.3"^^http://www.w3.org/2001/XMLSchema#string + 'UBA domain containing 2' SubClassOf 'Major susceptibility factor in' some 'Beh�et disease' + 'UBA domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119562 Label: autoimmune regulator - 'autoimmune regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune polyendocrinopathy type 1' - 'autoimmune regulator' SubClassOf 'gene' + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autoimmune polyendocrinopathy type 1' + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'autoimmune regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251630 Label: Anaplastic oligodendroglioma - 'Anaplastic oligodendroglioma' SubClassOf 'part_of' some 'Oligodendroglial tumor' - 'Anaplastic oligodendroglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Anaplastic oligodendroglioma' SubClassOf 'disease' - 'Anaplastic oligodendroglioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Anaplastic oligodendroglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligodendroglial tumor' + 'Anaplastic oligodendroglioma' SubClassOf 'disease' + 'Anaplastic oligodendroglioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_251633 Label: Low grade ependymoma - 'Low grade ependymoma' SubClassOf 'part_of' some 'Ependymal tumor' - 'Low grade ependymoma' SubClassOf 'disease' + 'Low grade ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ependymal tumor' + 'Low grade ependymoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90030 Label: Hemolytic anemia due to glutathione reductase deficiency - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'disease' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_293910 Label: Familial isolated arrhythmogenic ventricular dysplasia, right dominant form - 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' - 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'clinical subtype' + 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_399685 Label: Rare male infertility due to testicular endocrine disorder - 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268016 Label: RAB18, member RAS oncogene family - 'RAB18, member RAS oncogene family' SubClassOf 'gene' - 'RAB18, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB18, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90031 Label: Non-spherocytic hemolytic anemia due to hexokinase deficiency - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disease' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to a disorder of glycolytic enzymes' - 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disease' + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to a disorder of glycolytic enzymes' Class: http://www.orpha.net/ORDO/Orphanet_306550 Label: FADD-related immunodeficiency - 'FADD-related immunodeficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'FADD-related immunodeficiency' SubClassOf 'disease' - 'FADD-related immunodeficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'FADD-related immunodeficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'FADD-related immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'FADD-related immunodeficiency' SubClassOf 'disease' + 'FADD-related immunodeficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'FADD-related immunodeficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'FADD-related immunodeficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_90036 Label: Mixed-type autoimmune hemolytic anemia - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'disease' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'disease' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mixed-type autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Mixed-type autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_90035 Label: Paroxysmal cold hemoglobinuria - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'disease' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia, cold type' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Paroxysmal cold hemoglobinuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Paroxysmal cold hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia, cold type' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'disease' + 'Paroxysmal cold hemoglobinuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_306522 Label: Familial primary hypomagnesemia with normocalcuria - 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90033 Label: Autoimmune hemolytic anemia, warm type - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Autoimmune hemolytic anemia, warm type' SubClassOf 'disease' + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'disease' + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autoimmune hemolytic anemia, warm type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune hemolytic anemia, warm type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Autoimmune hemolytic anemia, warm type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_281122 Label: Self-healing collodion baby - 'Self-healing collodion baby' SubClassOf 'disease' - 'Self-healing collodion baby' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Self-healing collodion baby' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Self-healing collodion baby' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Self-healing collodion baby' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' + 'Self-healing collodion baby' SubClassOf 'disease' + 'Self-healing collodion baby' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Self-healing collodion baby' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119538 Label: alanine-glyoxylate aminotransferase - 'alanine-glyoxylate aminotransferase' SubClassOf 'gene' - 'alanine-glyoxylate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 1' + 'alanine-glyoxylate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alanine-glyoxylate aminotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'alanine-glyoxylate aminotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 1' Class: http://www.orpha.net/ORDO/Orphanet_90039 Label: Hemoglobin D disease - 'Hemoglobin D disease' SubClassOf 'disease' - 'Hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hemoglobin D disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin D disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Hemoglobin D disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hemoglobin D disease' SubClassOf 'disease' + 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_231242 Label: Hemoglobin C - beta-thalassemia - 'Hemoglobin C - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin C - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin C - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin C - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin C - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' Class: http://www.orpha.net/ORDO/Orphanet_90038 Label: Typical hemolytic-uremic syndrome - 'Typical hemolytic-uremic syndrome' SubClassOf 'disease' - 'Typical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Rare acquired hemolytic anemia' - 'Typical hemolytic-uremic syndrome' SubClassOf 'part_of' some 'Thrombotic microangiopathy' + 'Typical hemolytic-uremic syndrome' SubClassOf 'disease' + 'Typical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Typical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired hemolytic anemia' Class: http://www.orpha.net/ORDO/Orphanet_90037 Label: Drug-induced autoimmune hemolytic anemia - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Autoimmune hemolytic anemia' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'disease' + 'Drug-induced autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoimmune hemolytic anemia' + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Drug-induced autoimmune hemolytic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Drug-induced autoimmune hemolytic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306527 Label: Isolated hereditary congenital facial paralysis - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'part_of' some 'Paralytic facial malformation' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anomaly' + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paralytic facial malformation' + 'Isolated hereditary congenital facial paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isolated hereditary congenital facial paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated hereditary congenital facial paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' + 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231249 Label: Hemoglobin E - beta-thalassemia - 'Hemoglobin E - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin E - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin E - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemoglobin E - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hemoglobin E - beta-thalassemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_325124 Label: Testicular agenesis - 'Testicular agenesis' SubClassOf 'morphological anomaly' - 'Testicular agenesis' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - 'Testicular agenesis' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' + 'Testicular agenesis' SubClassOf 'morphological anomaly' + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_119535 Label: angiotensinogen (serpin peptidase inhibitor, clade A, member 8) - 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'gene' - 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.2"^^http://www.w3.org/2001/XMLSchema#string + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiotensinogen (serpin peptidase inhibitor, clade A, member 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_90042 Label: Primary familial polycythemia - 'Primary familial polycythemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Primary familial polycythemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary familial polycythemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary familial polycythemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Primary familial polycythemia' SubClassOf 'disease' - 'Primary familial polycythemia' SubClassOf 'part_of' some 'Polycythemia' - 'Primary familial polycythemia' SubClassOf 'part_of' some 'Genetic polycythemia' + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polycythemia' + 'Primary familial polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary familial polycythemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary familial polycythemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Primary familial polycythemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polycythemia' + 'Primary familial polycythemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_286578 Label: complement factor H-related 1 - 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' - 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' - 'complement factor H-related 1' SubClassOf 'gene' - 'complement factor H-related 1' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' + 'complement factor H-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' + 'complement factor H-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'complement factor H-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dense deposit disease' + 'complement factor H-related 1' SubClassOf 'Major susceptibility factor in' some 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_90041 Label: Gaisb�ck syndrome - 'Gaisb�ck syndrome' SubClassOf 'part_of' some 'Acquired secondary polycythemia' - 'Gaisb�ck syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gaisb�ck syndrome' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Gaisb�ck syndrome' SubClassOf 'disease' - 'Gaisb�ck syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Gaisb�ck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Gaisb�ck syndrome' SubClassOf 'disease' + 'Gaisb�ck syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gaisb�ck syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_90045 Label: Hereditary folate malabsorption - 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Intestinal disease due to vitamin absorption anomaly' - 'Hereditary folate malabsorption' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary folate malabsorption' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary folate malabsorption' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Hereditary folate malabsorption' SubClassOf 'disease' + 'Hereditary folate malabsorption' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Hereditary folate malabsorption' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to vitamin absorption anomaly' + 'Hereditary folate malabsorption' SubClassOf 'disease' + 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary folate malabsorption' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_306530 Label: Congenital hereditary facial paralysis with variable hearing loss - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anomaly' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'part_of' some 'Paralytic facial malformation' - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anomaly' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paralytic facial malformation' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_90044 Label: Familial pseudohyperkalemia - 'Familial pseudohyperkalemia' SubClassOf 'disease' - 'Familial pseudohyperkalemia' SubClassOf 'part_of' some 'Hereditary stomatocytosis' + 'Familial pseudohyperkalemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Familial pseudohyperkalemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119549 Label: Abelson helper integration site 1 - 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'Abelson helper integration site 1' SubClassOf 'gene' + 'Abelson helper integration site 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' + 'Abelson helper integration site 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_325118 Label: 46,XY disorder of gonadal development - '46,XY disorder of gonadal development' SubClassOf 'group of disorders' + '46,XY disorder of gonadal development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306539 Label: Hereditary acrokeratotic poikiloderma of Kindler-Weary - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_251607 Label: Pleomorphic xanthoastrocytoma - 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' - 'Pleomorphic xanthoastrocytoma' SubClassOf 'disease' + 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Pleomorphic xanthoastrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Pleomorphic xanthoastrocytoma' SubClassOf 'disease' + 'Pleomorphic xanthoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_119546 Label: adenosylhomocysteinase - 'adenosylhomocysteinase' SubClassOf 'gene' - 'adenosylhomocysteinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' + 'adenosylhomocysteinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosylhomocysteinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' + 'adenosylhomocysteinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251601 Label: Fibrillary astrocytoma - 'Fibrillary astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' - 'Fibrillary astrocytoma' SubClassOf 'histopathological subtype' + 'Fibrillary astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' + 'Fibrillary astrocytoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_251604 Label: Gemistocytic astrocytoma - 'Gemistocytic astrocytoma' SubClassOf 'histopathological subtype' - 'Gemistocytic astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' + 'Gemistocytic astrocytoma' SubClassOf 'histopathological subtype' + 'Gemistocytic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_282124 Label: Partial deletion of chromosome 12 - 'Partial deletion of chromosome 12' SubClassOf 'group of disorders' + 'Partial deletion of chromosome 12' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_51208 Label: Formiminoglutamic aciduria - 'Formiminoglutamic aciduria' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Formiminoglutamic aciduria' SubClassOf 'has_prevalence' some 'Unknown' - 'Formiminoglutamic aciduria' SubClassOf 'disease' - 'Formiminoglutamic aciduria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Formiminoglutamic aciduria' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' - 'Formiminoglutamic aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Formiminoglutamic aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of folate metabolism and transport' + 'Formiminoglutamic aciduria' SubClassOf 'disease' + 'Formiminoglutamic aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Formiminoglutamic aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_90050 Label: Retinopathy of prematurity - 'Retinopathy of prematurity' SubClassOf 'disease' - 'Retinopathy of prematurity' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Retinopathy of prematurity' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Retinopathy of prematurity' SubClassOf 'disease' + 'Retinopathy of prematurity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Retinopathy of prematurity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Retinopathy of prematurity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' Class: http://www.orpha.net/ORDO/Orphanet_84132 Label: Desmin-related myopathy with Mallory body-like inclusions - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'disease' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Inclusion myopathy' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Qualitative or quantitative defects of desmin' - 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'part_of' some 'Qualitative or quantitative defects of selenoprotein N1' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of selenoprotein N1' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of desmin' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inclusion myopathy' + 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_320663 Label: coiled-coil domain containing 88C - 'coiled-coil domain containing 88C' SubClassOf 'gene' - 'coiled-coil domain containing 88C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-communicating hydrocephalus' + 'coiled-coil domain containing 88C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.12"^^http://www.w3.org/2001/XMLSchema#string + 'coiled-coil domain containing 88C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-communicating hydrocephalus' + 'coiled-coil domain containing 88C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_281127 Label: Acral self-healing collodion baby - 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acral self-healing collodion baby' SubClassOf 'disease' - 'Acral self-healing collodion baby' SubClassOf 'part_of' some 'Autosomal recessive congenital ichthyosis' - 'Acral self-healing collodion baby' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acral self-healing collodion baby' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acral self-healing collodion baby' SubClassOf 'disease' + 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acral self-healing collodion baby' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acral self-healing collodion baby' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_181396 Label: Rare hypothyroidism - 'Rare hypothyroidism' SubClassOf 'group of disorders' + 'Rare hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119513 Label: aspartylglucosaminidase - 'aspartylglucosaminidase' SubClassOf 'gene' - 'aspartylglucosaminidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aspartylglucosaminuria' + 'aspartylglucosaminidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'aspartylglucosaminidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aspartylglucosaminidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aspartylglucosaminuria' Class: http://www.orpha.net/ORDO/Orphanet_329249 Label: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'disease' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181393 Label: Growth hormone insensitivity syndrome - 'Growth hormone insensitivity syndrome' SubClassOf 'group of disorders' + 'Growth hormone insensitivity syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268061 Label: kinesin family member 7 - 'kinesin family member 7' SubClassOf 'gene' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Al-Gazali type' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hydrolethalus' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome' + 'kinesin family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.1"^^http://www.w3.org/2001/XMLSchema#string + 'kinesin family member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' + 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Al-Gazali type' Class: http://www.orpha.net/ORDO/Orphanet_354069 Label: chromosome 10 open reading frame 11 - 'chromosome 10 open reading frame 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 7' - 'chromosome 10 open reading frame 11' SubClassOf 'gene' + 'chromosome 10 open reading frame 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 7' + 'chromosome 10 open reading frame 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 10 open reading frame 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_181390 Label: Hypogonadotropic hypogonadism associated with other endocrinopathies - 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'group of disorders' + 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306588 Label: Autosomal dominant Opitz G/BBB syndrome - 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Opitz G/BBB syndrome' - 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Opitz G/BBB syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119516 Label: angiogenic factor with G patch and FHA domains 1 - 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'gene' - 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'Major susceptibility factor in' some 'Klippel-Tr�naunay syndrome' + 'angiogenic factor with G patch and FHA domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'angiogenic factor with G patch and FHA domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'angiogenic factor with G patch and FHA domains 1' SubClassOf 'Major susceptibility factor in' some 'Klippel-Tr�naunay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_325109 Label: Syndrome with 46,XX disorder of sex development - 'Syndrome with 46,XX disorder of sex development' SubClassOf 'group of disorders' + 'Syndrome with 46,XX disorder of sex development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90065 Label: Acquired aneurysmal subarachnoid hemorrhage - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'disease' - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_331952 Label: post-GPI attachment to proteins 2 - 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' - 'post-GPI attachment to proteins 2' SubClassOf 'gene' + 'post-GPI attachment to proteins 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'post-GPI attachment to proteins 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90061 Label: Non-infectious posterior uveitis - 'Non-infectious posterior uveitis' SubClassOf 'group of disorders' + 'Non-infectious posterior uveitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "18.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Non-infectious posterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_90060 Label: Diffuse alveolar hemorrhage - 'Diffuse alveolar hemorrhage' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Diffuse alveolar hemorrhage' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Diffuse alveolar hemorrhage' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Diffuse alveolar hemorrhage' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Diffuse alveolar hemorrhage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Diffuse alveolar hemorrhage' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_271870 Label: Rare genetic systemic or rheumatologic disease - 'Rare genetic systemic or rheumatologic disease' SubClassOf 'group of disorders' + 'Rare genetic systemic or rheumatologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401764 Label: Pancytopenia-developmental delay syndrome - 'Pancytopenia-developmental delay syndrome' SubClassOf 'disease' - 'Pancytopenia-developmental delay syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' + 'Pancytopenia-developmental delay syndrome' SubClassOf 'disease' + 'Pancytopenia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_401768 Label: Proximal myopathy with extrapyramidal signs - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_329242 Label: Congenital chronic diarrhea with protein-losing enteropathy - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'disease' - 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'disease' + 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_119523 Label: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase - 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen debranching enzyme deficiency' - 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'gene' + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glycogen debranching enzyme deficiency' + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119525 Label: 1-acylglycerol-3-phosphate O-acyltransferase 2 - '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' - '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'gene' + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_329235 Label: X-linked central congenital hypothyroidism with late-onset testicular enlargement - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'part_of' some 'Central congenital hypothyroidism' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'disease' - 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'disease' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central congenital hypothyroidism' + 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_213557 Label: Salivary gland type cancer of the breast - 'Salivary gland type cancer of the breast' SubClassOf 'disease' - 'Salivary gland type cancer of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' + 'Salivary gland type cancer of the breast' SubClassOf 'disease' + 'Salivary gland type cancer of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_271853 Label: Genetic cardiac anomaly - 'Genetic cardiac anomaly' SubClassOf 'group of disorders' + 'Genetic cardiac anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331958 Label: EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase - 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'gene' - 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.1"^^http://www.w3.org/2001/XMLSchema#string + 'EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adams-Oliver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306597 Label: X-linked Opitz G/BBB syndrome - 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' - 'X-linked Opitz G/BBB syndrome' SubClassOf 'part_of' some 'Opitz G/BBB syndrome' + 'X-linked Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Opitz G/BBB syndrome' + 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119528 Label: alkylglycerone phosphate synthase - 'alkylglycerone phosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 3' - 'alkylglycerone phosphate synthase' SubClassOf 'gene' + 'alkylglycerone phosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q"^^http://www.w3.org/2001/XMLSchema#string + 'alkylglycerone phosphate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rhizomelic chondrodysplasia punctata type 3' + 'alkylglycerone phosphate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90068 Label: Cocaine poisoning - 'Cocaine poisoning' SubClassOf 'disease' - 'Cocaine poisoning' SubClassOf 'part_of' some 'Rare intoxication' + 'Cocaine poisoning' SubClassOf 'disease' + 'Cocaine poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_90069 Label: Systemic monochloroacetate poisoning - 'Systemic monochloroacetate poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Systemic monochloroacetate poisoning' SubClassOf 'disease' + 'Systemic monochloroacetate poisoning' SubClassOf 'disease' + 'Systemic monochloroacetate poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_281103 Label: Keratinopathic ichthyosis - 'Keratinopathic ichthyosis' SubClassOf 'group of disorders' + 'Keratinopathic ichthyosis' SubClassOf 'group of disorders' + 'Keratinopathic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Keratinopathic ichthyosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_401771 Label: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'gene' - 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to IKK2 deficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Severe combined immunodeficiency due to IKK2 deficiency' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90070 Label: Methotrexate poisoning - 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Methotrexate poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Methotrexate poisoning' SubClassOf 'part_of' some 'Rare intoxication due to medical products' + 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Methotrexate poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Methotrexate poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_271861 Label: Familial transthyretin-related amyloidosis - 'Familial transthyretin-related amyloidosis' SubClassOf 'group of disorders' + 'Familial transthyretin-related amyloidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268052 Label: histidyl-tRNA synthetase 2, mitochondrial - 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' - 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'histidyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_316081 Label: POC1 centriolar protein A - 'POC1 centriolar protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' - 'POC1 centriolar protein A' SubClassOf 'gene' + 'POC1 centriolar protein A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' + 'POC1 centriolar protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'POC1 centriolar protein A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401777 Label: Optic atrophy-intellectual disability syndrome - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic optic atrophy' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Optic atrophy-intellectual disability syndrome' SubClassOf 'disease' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic optic atrophy' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'disease' + 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_181399 Label: Rare hyperthyroidism - 'Rare hyperthyroidism' SubClassOf 'group of disorders' + 'Rare hyperthyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181371 Label: Rare diabetes mellitus type 1 - 'Rare diabetes mellitus type 1' SubClassOf 'group of disorders' + 'Rare diabetes mellitus type 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_91144 Label: 46,XX disorder of sex development induced by maternal-derived androgen - '46,XX disorder of sex development induced by maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315478 Label: interferon regulatory factor 8 - 'interferon regulatory factor 8' SubClassOf 'gene' - 'interferon regulatory factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' + 'interferon regulatory factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'interferon regulatory factor 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interferon regulatory factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_213569 Label: Rare cancer of the corpus uteri - 'Rare cancer of the corpus uteri' SubClassOf 'group of disorders' + 'Rare cancer of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181376 Label: Rare diabetes mellitus type 2 - 'Rare diabetes mellitus type 2' SubClassOf 'group of disorders' + 'Rare diabetes mellitus type 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331967 Label: caseinolytic mitochondrial matrix peptidase proteolytic subunit - 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'gene' - 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'caseinolytic mitochondrial matrix peptidase proteolytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_33069 Label: Dravet syndrome - 'Dravet syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Dravet syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Dravet syndrome' SubClassOf 'part_of' some 'Channelopathy with epilepsy' - 'Dravet syndrome' SubClassOf 'disease' - 'Dravet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Channelopathy with epilepsy' + 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dravet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Dravet syndrome' SubClassOf 'disease' + 'Dravet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' + 'Dravet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dravet syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_90077 Label: Other acquired skin disease - 'Other acquired skin disease' SubClassOf 'group of disorders' + 'Other acquired skin disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33067 Label: Metaphyseal chondrodysplasia, Jansen type - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_271847 Label: Genetic endocrine tumor - 'Genetic endocrine tumor' SubClassOf 'group of disorders' + 'Genetic endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_48104 Label: Pyoderma gangrenosum - 'Pyoderma gangrenosum' SubClassOf 'has_prevalence' some 'Unknown' - 'Pyoderma gangrenosum' SubClassOf 'disease' - 'Pyoderma gangrenosum' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Pyoderma gangrenosum' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Pyoderma gangrenosum' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Pyoderma gangrenosum' SubClassOf 'disease' + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Pyoderma gangrenosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.63"^^http://www.w3.org/2001/XMLSchema#string) + 'Pyoderma gangrenosum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Pyoderma gangrenosum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pyoderma gangrenosum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pyoderma gangrenosum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_271841 Label: Genetic cardiac tumor - 'Genetic cardiac tumor' SubClassOf 'group of disorders' + 'Genetic cardiac tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_271844 Label: Genetic urogenital tumor - 'Genetic urogenital tumor' SubClassOf 'group of disorders' + 'Genetic urogenital tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213564 Label: Rare uterine cancer - 'Rare uterine cancer' SubClassOf 'group of disorders' + 'Rare uterine cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331972 Label: leucyl-tRNA synthetase 2, mitochondrial - 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' - 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perrault syndrome' + 'leucyl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_306561 Label: Autosomal dominant childhood-onset cortical cataract - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'clinical subtype' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_156159 Label: Isolated dystonia - 'Isolated dystonia' SubClassOf 'group of disorders' + 'Isolated dystonia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_268049 Label: mucin 5B, oligomeric mucus/gel-forming - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'gene' - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' Class: http://www.orpha.net/ORDO/Orphanet_181368 Label: Insulin-resistance syndrome - 'Insulin-resistance syndrome' SubClassOf 'group of disorders' + 'Insulin-resistance syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315470 Label: ISG15 ubiquitin-like modifier - 'ISG15 ubiquitin-like modifier' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' - 'ISG15 ubiquitin-like modifier' SubClassOf 'gene' + 'ISG15 ubiquitin-like modifier' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ISG15 ubiquitin-like modifier' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'ISG15 ubiquitin-like modifier' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_156156 Label: Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy - 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_156152 Label: Anti-neutrophil cytoplasmic antibody-associated vasculitis - 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'group of disorders' + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181381 Label: Other rare diabetes mellitus - 'Other rare diabetes mellitus' SubClassOf 'group of disorders' + 'Other rare diabetes mellitus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_52662 Label: Rare teratologic disease - 'Rare teratologic disease' SubClassOf 'group of disorders' + 'Rare teratologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329258 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2Q - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_181384 Label: Rare hypothalamic or pituitary disease - 'Rare hypothalamic or pituitary disease' SubClassOf 'group of disorders' + 'Rare hypothalamic or pituitary disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119502 Label: adenosine deaminase, RNA-specific - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' - 'adenosine deaminase, RNA-specific' SubClassOf 'gene' - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' - 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis symmetrica hereditaria' + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenosine deaminase, RNA-specific' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial infantile bilateral striatal necrosis' + 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis symmetrica hereditaria' Class: http://www.orpha.net/ORDO/Orphanet_181387 Label: Rare disorder with hypogonadotropic hypogonadism - 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306577 Label: Sodium channelopathy-related small fiber neuropathy - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_119507 Label: adenylosuccinate lyase - 'adenylosuccinate lyase' SubClassOf 'gene' - 'adenylosuccinate lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenylosuccinate lyase deficiency' + 'adenylosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'adenylosuccinate lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenylosuccinate lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adenylosuccinate lyase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_331979 Label: potassium channel tetramerization domain containing 1 - 'potassium channel tetramerization domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scalp-ear-nipple syndrome' - 'potassium channel tetramerization domain containing 1' SubClassOf 'gene' + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel tetramerization domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Scalp-ear-nipple syndrome' Class: http://www.orpha.net/ORDO/Orphanet_271835 Label: Genetic digestive tract tumor - 'Genetic digestive tract tumor' SubClassOf 'group of disorders' + 'Genetic digestive tract tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_271832 Label: Genetic soft tissue tumor - 'Genetic soft tissue tumor' SubClassOf 'group of disorders' + 'Genetic soft tissue tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119509 Label: AF4/FMR2 family, member 2 - 'AF4/FMR2 family, member 2' SubClassOf 'gene' - 'AF4/FMR2 family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' + 'AF4/FMR2 family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'AF4/FMR2 family, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 + 'AF4/FMR2 family, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'FRAXE intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_160311 Label: muscle, skeletal, receptor tyrosine kinase - 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'gene' - 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31.3-q32"^^http://www.w3.org/2001/XMLSchema#string + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_213574 Label: Rare adenocarcinoma of the corpus uteri - 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'part_of' some 'Rare cancer of the corpus uteri' - 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'disease' + 'Rare adenocarcinoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cancer of the corpus uteri' + 'Rare adenocarcinoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_395106 Label: STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase - 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' - 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'gene' + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cerebellar ataxia - hypogonadism' + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_156149 Label: Immune complex mediated vasculitis - 'Immune complex mediated vasculitis' SubClassOf 'group of disorders' + 'Immune complex mediated vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160307 Label: mitochondrially encoded tRNA tryptophan - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded tRNA tryptophan' SubClassOf 'gene' + 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA tryptophan' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded tRNA tryptophan' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded tRNA tryptophan' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_156146 Label: Predominantly small-vessel vasculitis - 'Predominantly small-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly small-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329255 Label: Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease' + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Blepharophimosis-intellectual disability syndrome' + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329252 Label: Spondylocostal dysostosis - hypospadias - intellectual disability - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'disease' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'disease' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_156143 Label: Predominantly medium-vessel vasculitis - 'Predominantly medium-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly medium-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156140 Label: Predominantly large-vessel vasculitis - 'Predominantly large-vessel vasculitis' SubClassOf 'group of disorders' + 'Predominantly large-vessel vasculitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401757 Label: CoA synthase - 'CoA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'COASY protein-associated neurodegeneration' - 'CoA synthase' SubClassOf 'gene' + 'CoA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'COASY protein-associated neurodegeneration' + 'CoA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q12-q21"^^http://www.w3.org/2001/XMLSchema#string + 'CoA synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118140 Label: parathyroid hormone 1 receptor - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia, Blomstrand type' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Enchondromatosis' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Eiken syndrome' - 'parathyroid hormone 1 receptor' SubClassOf 'gene' - 'parathyroid hormone 1 receptor' SubClassOf 'Candidate gene tested in' some 'Dental ankylosis' - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Jansen type' + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia, Blomstrand type' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22-p21.1"^^http://www.w3.org/2001/XMLSchema#string + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Eiken syndrome' + 'parathyroid hormone 1 receptor' SubClassOf 'Candidate gene tested in' some 'Dental ankylosis' + 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Jansen type' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Enchondromatosis' + 'parathyroid hormone 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_183924 Label: mitochondrially encoded tRNA leucine 2 (CUN) - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'gene' - 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Endomyocardial fibroelastosis' + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia' + 'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254892 Label: Autosomal dominant progressive external ophthalmoplegia - 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1053 Label: Vein of Galen aneurysm - 'Vein of Galen aneurysm' SubClassOf 'has_prevalence' some 'Unknown' - 'Vein of Galen aneurysm' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Vein of Galen aneurysm' SubClassOf 'has_inheritance' some 'sporadic' - 'Vein of Galen aneurysm' SubClassOf 'morphological anomaly' + 'Vein of Galen aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Vein of Galen aneurysm' SubClassOf 'morphological anomaly' + 'Vein of Galen aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Vein of Galen aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_118143 Label: protein tyrosine phosphatase, non-receptor type 11 - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metachondromatosis' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'gene' - 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Juvenile myelomonocytic leukemia' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Metachondromatosis' + 'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1054 Label: Aneurysm of sinus of Valsalva - 'Aneurysm of sinus of Valsalva' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aneurysm of sinus of Valsalva' SubClassOf 'has_prevalence' some 'Unknown' - 'Aneurysm of sinus of Valsalva' SubClassOf 'morphological anomaly' - 'Aneurysm of sinus of Valsalva' SubClassOf 'part_of' some 'Ascending aorta anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Aneurysm of sinus of Valsalva' SubClassOf 'morphological anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ascending aorta anomaly' + 'Aneurysm of sinus of Valsalva' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_398147 Label: Persistent idiopathic facial pain - 'Persistent idiopathic facial pain' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Persistent idiopathic facial pain' SubClassOf 'disease' + 'Persistent idiopathic facial pain' SubClassOf 'disease' + 'Persistent idiopathic facial pain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_1051 Label: Corneal anesthesia - deafness - intellectual disability - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'malformation syndrome' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Corneal anesthesia - deafness - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1052 Label: Mosaic variegated aneuploidy syndrome - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly' - 'Mosaic variegated aneuploidy syndrome' SubClassOf 'malformation syndrome' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mosaic variegated aneuploidy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mosaic variegated aneuploidy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chromosomal anomaly' + 'Mosaic variegated aneuploidy syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163988 Label: Developmental delay - deafness, Hildebrand type - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Developmental delay - deafness, Hildebrand type' SubClassOf 'malformation syndrome' + 'Developmental delay - deafness, Hildebrand type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Developmental delay - deafness, Hildebrand type' SubClassOf 'malformation syndrome' + 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Developmental delay - deafness, Hildebrand type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141214 Label: Congenital syngnathia - 'Congenital syngnathia' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Congenital syngnathia' SubClassOf 'malformation syndrome' + 'Congenital syngnathia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Congenital syngnathia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254898 Label: Deafness - encephaloneuropathy - obesity - valvulopathy - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1059 Label: Blue rubber bleb nevus - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Blue rubber bleb nevus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Skin vascular disease' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Genetic vascular anomaly' - 'Blue rubber bleb nevus' SubClassOf 'has_prevalence' some 'Unknown' - 'Blue rubber bleb nevus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Blue rubber bleb nevus' SubClassOf 'malformation syndrome' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Venous malformation' - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Venous malformation' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'Blue rubber bleb nevus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Blue rubber bleb nevus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Blue rubber bleb nevus' SubClassOf 'malformation syndrome' + 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_183928 Label: nucleoporin 155kDa - 'nucleoporin 155kDa' SubClassOf 'gene' - 'nucleoporin 155kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial atrial fibrillation' + 'nucleoporin 155kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138543 Label: spermine synthase - 'spermine synthase' SubClassOf 'gene' - 'spermine synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Snyder type' + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.1"^^http://www.w3.org/2001/XMLSchema#string + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'spermine synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked intellectual disability, Snyder type' Class: http://www.orpha.net/ORDO/Orphanet_289825 Label: Late-onset primary lymphedema - 'Late-onset primary lymphedema' SubClassOf 'group of disorders' + 'Late-onset primary lymphedema' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141209 Label: Diffuse lymphatic malformation - 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diffuse lymphatic malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Diffuse lymphatic malformation' SubClassOf 'part_of' some 'Macrocystic lymphatic malformation' - 'Diffuse lymphatic malformation' SubClassOf 'clinical subtype' + 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diffuse lymphatic malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diffuse lymphatic malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse lymphatic malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrocystic lymphatic malformation' + 'Diffuse lymphatic malformation' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_357453 Label: tropomyosin 4 - 'tropomyosin 4' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' - 'tropomyosin 4' SubClassOf 'gene' + 'tropomyosin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'tropomyosin 4' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'tropomyosin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_34217 Label: Naxos disease - 'Naxos disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Naxos disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Naxos disease' SubClassOf 'part_of' some 'Arrhythmogenic right ventricular dysplasia' - 'Naxos disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Naxos disease' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Naxos disease' SubClassOf 'disease' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arrhythmogenic right ventricular dysplasia' + 'Naxos disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Naxos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Naxos disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Naxos disease' SubClassOf 'disease' + 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_304486 Label: diaphanous-related formin 3 - 'diaphanous-related formin 3' SubClassOf 'gene' - 'diaphanous-related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'diaphanous-related formin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diaphanous-related formin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'diaphanous-related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_40366 Label: Acitretin embryofetopathy - 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acitretin embryofetopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Acitretin embryofetopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acitretin embryofetopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Acitretin embryofetopathy' SubClassOf 'disease' + 'Acitretin embryofetopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Acitretin embryofetopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Acitretin embryofetopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acitretin embryofetopathy' SubClassOf 'disease' + 'Acitretin embryofetopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183933 Label: wingless-type MMTV integration site family, member 10B - 'wingless-type MMTV integration site family, member 10B' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'wingless-type MMTV integration site family, member 10B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'wingless-type MMTV integration site family, member 10B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138557 Label: VANGL planar cell polarity protein 1 - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Caudal regression sequence' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'VANGL planar cell polarity protein 1' SubClassOf 'gene' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Familial caudal dysgenesis' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Caudal regression sequence' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'VANGL planar cell polarity protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'VANGL planar cell polarity protein 1' SubClassOf 'Major susceptibility factor in' some 'Familial caudal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_400687 Label: kizuna centrosomal protein - 'kizuna centrosomal protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'kizuna centrosomal protein' SubClassOf 'gene' + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'kizuna centrosomal protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118151 Label: protein tyrosine phosphatase, receptor type, C - 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'gene' - 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD45 deficiency' + 'protein tyrosine phosphatase, receptor type, C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, receptor type, C' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD45 deficiency' + 'protein tyrosine phosphatase, receptor type, C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1044 Label: Anemia due to adenosine triphosphatase deficiency - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' Class: http://www.orpha.net/ORDO/Orphanet_1040 Label: Metaphyseal anadysplasia - 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal anadysplasia' SubClassOf 'disease' - 'Metaphyseal anadysplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal anadysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal anadysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal anadysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal anadysplasia' SubClassOf 'disease' + 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal anadysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metaphyseal anadysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1041 Label: Hydrops fetalis - 'Hydrops fetalis' SubClassOf 'part_of' some 'Rare developmental defect during embryogenesis' - 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hydrops fetalis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hydrops fetalis' SubClassOf 'malformation syndrome' - 'Hydrops fetalis' SubClassOf 'has_inheritance' some 'sporadic' + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410217) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "380.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "134.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydrops fetalis' SubClassOf 'malformation syndrome' + 'Hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare developmental defect during embryogenesis' + 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hydrops fetalis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Hydrops fetalis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hydrops fetalis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "180.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99098 Label: Cor triatriatum dexter - 'Cor triatriatum dexter' SubClassOf 'morphological anomaly' - 'Cor triatriatum dexter' SubClassOf 'part_of' some 'Triatrial heart' + 'Cor triatriatum dexter' SubClassOf 'morphological anomaly' + 'Cor triatriatum dexter' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Triatrial heart' Class: http://www.orpha.net/ORDO/Orphanet_398156 Label: Oculoauriculofrontonasal syndrome - 'Oculoauriculofrontonasal syndrome' SubClassOf 'malformation syndrome' - 'Oculoauriculofrontonasal syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' + 'Oculoauriculofrontonasal syndrome' SubClassOf 'malformation syndrome' + 'Oculoauriculofrontonasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_99099 Label: Cor triatriatum sinister - 'Cor triatriatum sinister' SubClassOf 'part_of' some 'Triatrial heart' - 'Cor triatriatum sinister' SubClassOf 'morphological anomaly' + 'Cor triatriatum sinister' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Triatrial heart' + 'Cor triatriatum sinister' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289832 Label: Disorder of lysine and hydroxylysine metabolism - 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of disorders' + 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99096 Label: Multiple ventricular septal defects - 'Multiple ventricular septal defects' SubClassOf 'morphological anomaly' - 'Multiple ventricular septal defects' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Multiple ventricular septal defects' SubClassOf 'morphological anomaly' + 'Multiple ventricular septal defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99097 Label: Single ventricular septal defect - 'Single ventricular septal defect' SubClassOf 'morphological anomaly' - 'Single ventricular septal defect' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Single ventricular septal defect' SubClassOf 'morphological anomaly' + 'Single ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_99094 Label: Laubry-Pezzi syndrome - 'Laubry-Pezzi syndrome' SubClassOf 'morphological anomaly' - 'Laubry-Pezzi syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Laubry-Pezzi syndrome' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Laubry-Pezzi syndrome' SubClassOf 'morphological anomaly' + 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Laubry-Pezzi syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1046 Label: Lethal hemolytic anemia - genital anomalies - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'malformation syndrome' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'malformation syndrome' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Lethal hemolytic anemia - genital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_99095 Label: Gerbode defect - 'Gerbode defect' SubClassOf 'has_prevalence' some 'Unknown' - 'Gerbode defect' SubClassOf 'morphological anomaly' - 'Gerbode defect' SubClassOf 'part_of' some 'Ventricular septal defect' - 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Gerbode defect' SubClassOf 'morphological anomaly' + 'Gerbode defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1047 Label: Sideroblastic anemia - 'Sideroblastic anemia' SubClassOf 'group of disorders' + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Sideroblastic anemia' SubClassOf 'group of disorders' + 'Sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_183938 Label: dynein, cytoplasmic 2, heavy chain 1 - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'gene' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q21-q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'dynein, cytoplasmic 2, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' Class: http://www.orpha.net/ORDO/Orphanet_99092 Label: Interventricular septum aneurysm - 'Interventricular septum aneurysm' SubClassOf 'morphological anomaly' - 'Interventricular septum aneurysm' SubClassOf 'part_of' some 'Ventricular septal defect' + 'Interventricular septum aneurysm' SubClassOf 'morphological anomaly' + 'Interventricular septum aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_1048 Label: Isolated anencephaly/exencephaly - 'Isolated anencephaly/exencephaly' SubClassOf 'morphological anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Neural tube closure defect' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated anencephaly/exencephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410210) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "26.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "35.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410093) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "210.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "20.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410191) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "58.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf 'morphological anomaly' + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated anencephaly/exencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410095) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C029 value "120.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neural tube closure defect' Class: http://www.orpha.net/ORDO/Orphanet_289829 Label: Disorder of tryptophan metabolism - 'Disorder of tryptophan metabolism' SubClassOf 'group of disorders' + 'Disorder of tryptophan metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99090 Label: Malposition of the coronary ostium - 'Malposition of the coronary ostium' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Malposition of the coronary ostium' SubClassOf 'morphological anomaly' + 'Malposition of the coronary ostium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Malposition of the coronary ostium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141219 Label: Nasal dorsum fistula/cyst - 'Nasal dorsum fistula/cyst' SubClassOf 'morphological anomaly' - 'Nasal dorsum fistula/cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dorsum fistula/cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dorsum fistula/cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_118157 Label: 6-pyruvoyltetrahydropterin synthase - '6-pyruvoyltetrahydropterin synthase' SubClassOf 'gene' - '6-pyruvoyltetrahydropterin synthase' SubClassOf 'Disease-causing germline mutation(s) in' some '6-pyruvoyl-tetrahydropterin synthase deficiency' + '6-pyruvoyltetrahydropterin synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '6-pyruvoyltetrahydropterin synthase' SubClassOf 'Disease-causing germline mutation(s) in' some '6-pyruvoyl-tetrahydropterin synthase deficiency' + '6-pyruvoyltetrahydropterin synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_47044 Label: Familial papillary renal cell carcinoma - 'Familial papillary renal cell carcinoma' SubClassOf 'disease' - 'Familial papillary renal cell carcinoma' SubClassOf 'part_of' some 'Genetic renal tumor' - 'Familial papillary renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial papillary renal cell carcinoma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial papillary renal cell carcinoma' SubClassOf 'part_of' some 'Familial renal cell carcinoma' + 'Familial papillary renal cell carcinoma' SubClassOf 'disease' + 'Familial papillary renal cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited renal cell cancer-predisposing syndrome' + 'Familial papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic renal tumor' + 'Familial papillary renal cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_47045 Label: Familial cold urticaria - 'Familial cold urticaria' SubClassOf 'disease' - 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Genetic urticaria' - 'Familial cold urticaria' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Rare urticaria' - 'Familial cold urticaria' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cold urticaria' SubClassOf 'part_of' some 'Cryopyrin-associated periodic syndrome' + 'Familial cold urticaria' SubClassOf 'disease' + 'Familial cold urticaria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cryopyrin-associated periodic syndrome' + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_99089 Label: Abnormal number of coronary ostia - 'Abnormal number of coronary ostia' SubClassOf 'morphological anomaly' - 'Abnormal number of coronary ostia' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Abnormal number of coronary ostia' SubClassOf 'morphological anomaly' + 'Abnormal number of coronary ostia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_251688 Label: retinitis pigmentosa 1-like 1 - 'retinitis pigmentosa 1-like 1' SubClassOf 'gene' - 'retinitis pigmentosa 1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occult macular dystrophy' + 'retinitis pigmentosa 1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinitis pigmentosa 1-like 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinitis pigmentosa 1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Occult macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_282196 Label: Autoimmune polyendocrinopathy - 'Autoimmune polyendocrinopathy' SubClassOf 'group of disorders' + 'Autoimmune polyendocrinopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_138526 Label: stimulated by retinoic acid 6 - 'stimulated by retinoic acid 6' SubClassOf 'gene' - 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' - 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'stimulated by retinoic acid 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' + 'stimulated by retinoic acid 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'stimulated by retinoic acid 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1034 Label: Amniotic bands - 'Amniotic bands' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amniotic bands' SubClassOf 'group of disorders' - 'Amniotic bands' SubClassOf 'has_inheritance' some 'sporadic' - 'Amniotic bands' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Amniotic bands' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410023) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Amniotic bands' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amniotic bands' SubClassOf 'group of disorders' + 'Amniotic bands' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Amniotic bands' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1031 Label: Amelogenesis imperfecta - nephrocalcinosis - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'malformation syndrome' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Nephropathy secondary to a storage or other metabolic disease' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'malformation syndrome' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nephropathy secondary to a storage or other metabolic disease' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_118121 Label: patched 1 - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'patched 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 9q22.3' - 'patched 1' SubClassOf 'gene' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome' - 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'patched 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 9q22.3' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'patched 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'patched 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22.1-q31"^^http://www.w3.org/2001/XMLSchema#string + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome' + 'patched 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_1032 Label: Hyperdibasic aminoaciduria type 1 - 'Hyperdibasic aminoaciduria type 1' SubClassOf 'part_of' some 'Disorder of amino acid absorption and transport' - 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' + 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' + 'Hyperdibasic aminoaciduria type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of amino acid absorption and transport' Class: http://www.orpha.net/ORDO/Orphanet_251683 Label: poliovirus receptor-related 4 - 'poliovirus receptor-related 4' SubClassOf 'gene' - 'poliovirus receptor-related 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ectodermal dysplasia - syndactyly syndrome' + 'poliovirus receptor-related 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q22-q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'poliovirus receptor-related 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'poliovirus receptor-related 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ectodermal dysplasia - syndactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268087 Label: dynein, axonemal, light chain 1 - 'dynein, axonemal, light chain 1' SubClassOf 'gene' - 'dynein, axonemal, light chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein, axonemal, light chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynein, axonemal, light chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, axonemal, light chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_99081 Label: Right aortic arch - 'Right aortic arch' SubClassOf 'morphological anomaly' - 'Right aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' + 'Right aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Right aortic arch' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_138523 Label: signal transducer and activator of transcription 3 (acute-phase response factor) - 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'gene' - 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome' + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'signal transducer and activator of transcription 3 (acute-phase response factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1037 Label: Arthrogryposis multiplex congenita - 'Arthrogryposis multiplex congenita' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'sporadic' - 'Arthrogryposis multiplex congenita' SubClassOf 'group of disorders' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Arthrogryposis multiplex congenita' SubClassOf 'group of disorders' + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99082 Label: Dysphagia lusoria - 'Dysphagia lusoria' SubClassOf 'part_of' some 'Aortic arch defects' - 'Dysphagia lusoria' SubClassOf 'morphological anomaly' + 'Dysphagia lusoria' SubClassOf 'morphological anomaly' + 'Dysphagia lusoria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_401785 Label: Autosomal recessive spastic paraplegia type 62 - 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 62' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183907 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99083 Label: Pulmonary artery hypoplasia - 'Pulmonary artery hypoplasia' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary artery hypoplasia' SubClassOf 'morphological anomaly' + 'Pulmonary artery hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' + 'Pulmonary artery hypoplasia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1035 Label: Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'disease' - 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'disease' + 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_254871 Label: Mitochondrial DNA depletion syndrome, hepatocerebral form - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of disorders' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99084 Label: Pulmonary branch stenosis - 'Pulmonary branch stenosis' SubClassOf 'part_of' some 'Pulmonary artery or pulmonary branch anomaly' - 'Pulmonary branch stenosis' SubClassOf 'morphological anomaly' + 'Pulmonary branch stenosis' SubClassOf 'morphological anomaly' + 'Pulmonary branch stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pulmonary artery or pulmonary branch anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99085 Label: Coronary artery intramyocardial course - 'Coronary artery intramyocardial course' SubClassOf 'morphological anomaly' - 'Coronary artery intramyocardial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Coronary artery intramyocardial course' SubClassOf 'morphological anomaly' + 'Coronary artery intramyocardial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_99086 Label: Aortopulmonary coronary arterial course - 'Aortopulmonary coronary arterial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Aortopulmonary coronary arterial course' SubClassOf 'morphological anomaly' + 'Aortopulmonary coronary arterial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Aortopulmonary coronary arterial course' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_293987 Label: Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'disease' + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141234 Label: Median facial cleft - 'Median facial cleft' SubClassOf 'group of disorders' + 'Median facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99087 Label: Stenosis or atrophy of the coronary ostium - 'Stenosis or atrophy of the coronary ostium' SubClassOf 'morphological anomaly' - 'Stenosis or atrophy of the coronary ostium' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' + 'Stenosis or atrophy of the coronary ostium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' + 'Stenosis or atrophy of the coronary ostium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401780 Label: Autosomal recessive spastic paraplegia type 61 - 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 61' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254875 Label: Mitochondrial DNA depletion syndrome, myopathic form - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'part_of' some 'Disorder of pyrimidine metabolism' - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of pyrimidine metabolism' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99088 Label: Intramural coronary arterial course - 'Intramural coronary arterial course' SubClassOf 'part_of' some 'Abnormal origin or aberrant course of coronary artery' - 'Intramural coronary arterial course' SubClassOf 'morphological anomaly' + 'Intramural coronary arterial course' SubClassOf 'morphological anomaly' + 'Intramural coronary arterial course' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal origin or aberrant course of coronary artery' Class: http://www.orpha.net/ORDO/Orphanet_398166 Label: Focal facial dermal dysplasia - 'Focal facial dermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' + 'Focal facial dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Focal facial dermal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141229 Label: Facial cleft - 'Facial cleft' SubClassOf 'group of disorders' + 'Facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86918 Label: Diffuse palmoplantar keratoderma-acrocyanosis syndrome - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86917 Label: Lymphedema - cleft palate - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Lymphedema - cleft palate' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - cleft palate' SubClassOf 'malformation syndrome' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Lymphedema - cleft palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86919 Label: Keratosis palmaris et plantaris - clinodactyly - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_86914 Label: Lymphedema - cerebral arteriovenous anomaly - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'malformation syndrome' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'malformation syndrome' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_86913 Label: Myoclonic epilepsy in non-progressive encephalopathies - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'malformation syndrome' - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'malformation syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329228 Label: Microcephalic primordial dwarfism due to ZNF335 deficiency - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86915 Label: Lymphedema - atrial septal defects - facial changes - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'malformation syndrome' + 'Lymphedema - atrial septal defects - facial changes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lymphedema - atrial septal defects - facial changes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118126 Label: patched 2 - 'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' - 'patched 2' SubClassOf 'gene' + 'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Commissural facial cleft' + 'patched 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'patched 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251679 Label: Astroblastoma - 'Astroblastoma' SubClassOf 'disease' - 'Astroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Astroblastoma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Astroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Astroblastoma' SubClassOf 'disease' + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Astroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Astroblastoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.02"^^http://www.w3.org/2001/XMLSchema#string) + 'Astroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' Class: http://www.orpha.net/ORDO/Orphanet_329224 Label: Intellectual disability - craniofacial dysmorphism - cryptorchidism - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'malformation syndrome' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'malformation syndrome' + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_86911 Label: Epilepsy with myoclonic absences - 'Epilepsy with myoclonic absences' SubClassOf 'part_of' some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Epilepsy with myoclonic absences' SubClassOf 'disease' - 'Epilepsy with myoclonic absences' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Epilepsy with myoclonic absences' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118128 Label: phosphatase and tensin homolog - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-autism syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' - 'phosphatase and tensin homolog' SubClassOf 'gene' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bannayan-Riley-Ruvalcaba syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lhermitte-Duclos disease' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus-like syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-autism syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bannayan-Riley-Ruvalcaba syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lhermitte-Duclos disease' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cowden syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus-like syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Role in the phenotype of' some 'Juvenile polyposis of infancy' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proteus syndrome' + 'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck' + 'phosphatase and tensin homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_99078 Label: Neuhauser anomaly - 'Neuhauser anomaly' SubClassOf 'part_of' some 'Aortic arch defects' - 'Neuhauser anomaly' SubClassOf 'morphological anomaly' + 'Neuhauser anomaly' SubClassOf 'morphological anomaly' + 'Neuhauser anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_99079 Label: Cervical aortic arch - 'Cervical aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Cervical aortic arch' SubClassOf 'morphological anomaly' + 'Cervical aortic arch' SubClassOf 'morphological anomaly' + 'Cervical aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_329211 Label: Autosomal dominant neovascular inflammatory vitreoretinopathy - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some 'Vitreoretinal degeneration' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'disease' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vitreoretinal degeneration' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1020 Label: Early-onset autosomal dominant Alzheimer disease - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegenerative disease with dementia' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease with dementia' + 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1021 Label: Amaurosis - hypertrichosis - 'Amaurosis - hypertrichosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amaurosis - hypertrichosis' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Amaurosis - hypertrichosis' SubClassOf 'disease' - 'Amaurosis - hypertrichosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Amaurosis - hypertrichosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Amaurosis - hypertrichosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Amaurosis - hypertrichosis' SubClassOf 'disease' + 'Amaurosis - hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Amaurosis - hypertrichosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Amaurosis - hypertrichosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_183913 Label: endothelial PAS domain protein 1 - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple paragangliomas associated with polycythemia' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic secreting paraganglioma' - 'endothelial PAS domain protein 1' SubClassOf 'gene' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic pheochromocytoma' - 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple paragangliomas associated with polycythemia' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic secreting paraganglioma' + 'endothelial PAS domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21-p16"^^http://www.w3.org/2001/XMLSchema#string + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Sporadic pheochromocytoma' + 'endothelial PAS domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' + 'endothelial PAS domain protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1023 Label: Congenital generalized hypertrichosis, Ambras type - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'clinical subtype' - 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'part_of' some 'Hypertrichosis lanuginosa congenita' + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'clinical subtype' + 'Congenital generalized hypertrichosis, Ambras type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypertrichosis lanuginosa congenita' Class: http://www.orpha.net/ORDO/Orphanet_254881 Label: Spinocerebellar ataxia with epilepsy - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'part_of' some 'Ataxia neuropathy spectrum' - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spinocerebellar ataxia with epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ataxia neuropathy spectrum' + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99072 Label: Congenital patent ductus arteriosus aneurysm - 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'part_of' some 'Arterial duct anomaly' - 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'morphological anomaly' + 'Congenital patent ductus arteriosus aneurysm' SubClassOf 'morphological anomaly' + 'Congenital patent ductus arteriosus aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arterial duct anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401795 Label: Autosomal recessive spastic paraplegia type 59 - 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 59' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_398173 Label: Focal facial dermal dysplasia type II - 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Focal facial dermal dysplasia type II' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' - 'Focal facial dermal dysplasia type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Focal facial dermal dysplasia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Focal facial dermal dysplasia type II' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type II' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Focal facial dermal dysplasia type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Focal facial dermal dysplasia type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_293978 Label: Deficiency in anterior pituitary function-variable immunodeficiency syndrome - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'disease' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'disease' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99070 Label: Aorto-right ventricular tunnel - 'Aorto-right ventricular tunnel' SubClassOf 'part_of' some 'Aorto-ventricular tunnel' - 'Aorto-right ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-right ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-right ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_141242 Label: Paramedian nasal cleft - 'Paramedian nasal cleft' SubClassOf 'morphological anomaly' - 'Paramedian nasal cleft' SubClassOf 'part_of' some 'Paramedian facial cleft' + 'Paramedian nasal cleft' SubClassOf 'morphological anomaly' + 'Paramedian nasal cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Paramedian facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_99071 Label: Aorto-left ventricular tunnel - 'Aorto-left ventricular tunnel' SubClassOf 'part_of' some 'Aorto-ventricular tunnel' - 'Aorto-left ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-left ventricular tunnel' SubClassOf 'clinical subtype' + 'Aorto-left ventricular tunnel' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aorto-ventricular tunnel' Class: http://www.orpha.net/ORDO/Orphanet_138533 Label: angiotensin II receptor, type 1 - 'angiotensin II receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' - 'angiotensin II receptor, type 1' SubClassOf 'gene' + 'angiotensin II receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q24"^^http://www.w3.org/2001/XMLSchema#string + 'angiotensin II receptor, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'angiotensin II receptor, type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1027 Label: Autosomal recessive amelia - 'Autosomal recessive amelia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive amelia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' - 'Autosomal recessive amelia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Autosomal recessive amelia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive amelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive amelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive amelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' + 'Autosomal recessive amelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Autosomal recessive amelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_99076 Label: Persistent fifth aortic arch - 'Persistent fifth aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Persistent fifth aortic arch' SubClassOf 'morphological anomaly' + 'Persistent fifth aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Persistent fifth aortic arch' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1028 Label: Amelo-onycho-hypohidrotic syndrome - 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'malformation syndrome' - 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Amelo-onycho-hypohidrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254886 Label: Autosomal recessive progressive external ophthalmoplegia - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99077 Label: Kommerell diverticulum - 'Kommerell diverticulum' SubClassOf 'morphological anomaly' - 'Kommerell diverticulum' SubClassOf 'part_of' some 'Aortic arch defects' + 'Kommerell diverticulum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' + 'Kommerell diverticulum' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_138530 Label: renin - 'renin' SubClassOf 'gene' - 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia - anemia - renal failure' - 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' + 'renin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'renin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32"^^http://www.w3.org/2001/XMLSchema#string + 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia - anemia - renal failure' + 'renin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal tubular dysgenesis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_99075 Label: Encircling double aortic arch - 'Encircling double aortic arch' SubClassOf 'part_of' some 'Aortic arch defects' - 'Encircling double aortic arch' SubClassOf 'morphological anomaly' + 'Encircling double aortic arch' SubClassOf 'morphological anomaly' + 'Encircling double aortic arch' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aortic arch defects' Class: http://www.orpha.net/ORDO/Orphanet_141239 Label: Median cleft of the upper lip and maxilla - 'Median cleft of the upper lip and maxilla' SubClassOf 'part_of' some 'Median facial cleft' - 'Median cleft of the upper lip and maxilla' SubClassOf 'morphological anomaly' + 'Median cleft of the upper lip and maxilla' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Median cleft of the upper lip and maxilla' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_329217 Label: Cerebral sinovenous thrombosis - 'Cerebral sinovenous thrombosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebral sinovenous thrombosis' SubClassOf 'disease' - 'Cerebral sinovenous thrombosis' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Cerebral sinovenous thrombosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cerebral sinovenous thrombosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Cerebral sinovenous thrombosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebral sinovenous thrombosis' SubClassOf 'disease' + 'Cerebral sinovenous thrombosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_118135 Label: pancreas specific transcription factor, 1a - 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' - 'pancreas specific transcription factor, 1a' SubClassOf 'gene' - 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' + 'pancreas specific transcription factor, 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.31"^^http://www.w3.org/2001/XMLSchema#string + 'pancreas specific transcription factor, 1a' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_268073 Label: uroplakin 3A - 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'uroplakin 3A' SubClassOf 'gene' + 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'uroplakin 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.31"^^http://www.w3.org/2001/XMLSchema#string + 'uroplakin 3A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_86923 Label: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118138 Label: parathyroid hormone - 'parathyroid hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' - 'parathyroid hormone' SubClassOf 'gene' + 'parathyroid hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hypoparathyroidism due to impaired PTH secretion' + 'parathyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'parathyroid hormone' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.3-p15.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_86920 Label: Dermatopathia pigmentosa reticularis - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'disease' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Dermatopathia pigmentosa reticularis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf 'disease' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Dermatopathia pigmentosa reticularis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293964 Label: Hypoinsulinemic hypoglycemia and body hemihypertrophy - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Rare endocrine disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Rare genetic endocrine disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'disease' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare endocrine disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic endocrine disease' + 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1018 Label: X-linked diffuse leiomyomatosis - Alport syndrome - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'disease' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome X' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome X' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'disease' + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_138583 Label: PHD finger protein 8 - 'PHD finger protein 8' SubClassOf 'gene' - 'PHD finger protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Siderius type' + 'PHD finger protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PHD finger protein 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.22"^^http://www.w3.org/2001/XMLSchema#string + 'PHD finger protein 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Siderius type' Class: http://www.orpha.net/ORDO/Orphanet_293967 Label: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1014 Label: Alopecia - intellectual disability - hypergonadotropic hypogonadism - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'disease' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Alopecia' + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'disease' + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_400633 Label: centrosomal protein 19kDa - 'centrosomal protein 19kDa' SubClassOf 'gene' - 'centrosomal protein 19kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to CEP19 deficiency' + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Obesity due to CEP19 deficiency' + 'centrosomal protein 19kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319287 Label: Multilocular cystic renal cell carcinoma - 'Multilocular cystic renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Multilocular cystic renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118184 Label: quinoid dihydropteridine reductase - 'quinoid dihydropteridine reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropteridine reductase deficiency' - 'quinoid dihydropteridine reductase' SubClassOf 'gene' + 'quinoid dihydropteridine reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p15.31"^^http://www.w3.org/2001/XMLSchema#string + 'quinoid dihydropteridine reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dihydropteridine reductase deficiency' + 'quinoid dihydropteridine reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1010 Label: Autosomal dominant palmoplantar keratoderma and congenital alopecia - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_398109 Label: Neonatal autoimmune hemolytic anemia - 'Neonatal autoimmune hemolytic anemia' SubClassOf 'disease' - 'Neonatal autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal autoimmune hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal autoimmune hemolytic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251663 Label: Anaplastic oligoastrocytoma - 'Anaplastic oligoastrocytoma' SubClassOf 'part_of' some 'Oligoastrocytic tumor' - 'Anaplastic oligoastrocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Anaplastic oligoastrocytoma' SubClassOf 'disease' + 'Anaplastic oligoastrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoastrocytic tumor' + 'Anaplastic oligoastrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118180 Label: phosphorylase, glycogen, liver - 'phosphorylase, glycogen, liver' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' - 'phosphorylase, glycogen, liver' SubClassOf 'gene' + 'phosphorylase, glycogen, liver' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' + 'phosphorylase, glycogen, liver' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase, glycogen, liver' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_400638 Label: solute carrier family 38, member 8 - 'solute carrier family 38, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' - 'solute carrier family 38, member 8' SubClassOf 'gene' + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 38, member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q23.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284395 Label: Well-differentiated fetal adenocarcinoma of the lung - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_inheritance' some 'sporadic' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'disease' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_prevalence' some 'Unknown' - 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bronchopulmonary tumor' + 'Well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118182 Label: phosphorylase, glycogen, muscle - 'phosphorylase, glycogen, muscle' SubClassOf 'gene' - 'phosphorylase, glycogen, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' + 'phosphorylase, glycogen, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q12-q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'phosphorylase, glycogen, muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphorylase, glycogen, muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_400629 Label: kaptin (actin binding protein) - 'kaptin (actin binding protein)' SubClassOf 'gene' - 'kaptin (actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-developmental delay syndrome' + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.32"^^http://www.w3.org/2001/XMLSchema#string + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'kaptin (actin binding protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Macrocephaly-developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231226 Label: Dominant beta-thalassemia - 'Dominant beta-thalassemia' SubClassOf 'disease' - 'Dominant beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Dominant beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dominant beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Dominant beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dominant beta-thalassemia' SubClassOf 'disease' + 'Dominant beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dominant beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Dominant beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_251656 Label: Oligoastrocytoma - 'Oligoastrocytoma' SubClassOf 'part_of' some 'Oligoastrocytic tumor' - 'Oligoastrocytoma' SubClassOf 'disease' + 'Oligoastrocytoma' SubClassOf 'disease' + 'Oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oligoastrocytic tumor' Class: http://www.orpha.net/ORDO/Orphanet_311398 Label: ATPase, Ca++ transporting, plasma membrane 3 - 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'gene' - 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non progressive cerebellar ataxia' + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATPase, Ca++ transporting, plasma membrane 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_300493 Label: Sagliker syndrome - 'Sagliker syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Sagliker syndrome' SubClassOf 'part_of' some 'Rare bone disease' - 'Sagliker syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Sagliker syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sagliker syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Sagliker syndrome' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Sagliker syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone disease' + 'Sagliker syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Sagliker syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sagliker syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_300496 Label: Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'malformation syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome' - 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_118188 Label: RAB27A, member RAS oncogene family - 'RAB27A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 2' - 'RAB27A, member RAS oncogene family' SubClassOf 'gene' + 'RAB27A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 2' + 'RAB27A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15-q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAB27A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231222 Label: Beta-thalassemia intermedia - 'Beta-thalassemia intermedia' SubClassOf 'has_prevalence' some 'Unknown' - 'Beta-thalassemia intermedia' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Beta-thalassemia intermedia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Beta-thalassemia intermedia' SubClassOf 'disease' - 'Beta-thalassemia intermedia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Beta-thalassemia intermedia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Beta-thalassemia intermedia' SubClassOf 'disease' + 'Beta-thalassemia intermedia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia intermedia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_362774 Label: chromosome 15 open reading frame 41 - 'chromosome 15 open reading frame 41' SubClassOf 'gene' - 'chromosome 15 open reading frame 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' + 'chromosome 15 open reading frame 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 15 open reading frame 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital dyserythropoietic anemia type I' + 'chromosome 15 open reading frame 41' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q14"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_163956 Label: X-linked intellectual disability, Nascimento type - 'X-linked intellectual disability, Nascimento type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Nascimento type' SubClassOf 'disease' - 'X-linked intellectual disability, Nascimento type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Nascimento type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Nascimento type' SubClassOf 'disease' + 'X-linked intellectual disability, Nascimento type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_157215 Label: Hereditary hypophosphatemic rickets with hypercalciuria - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'part_of' some 'Hypophosphatemic rickets' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'disease' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypophosphatemic rickets' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'disease' + 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1006 Label: Alopecia antibody deficiency - 'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia antibody deficiency' SubClassOf 'disease' + 'Alopecia antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia antibody deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1008 Label: Alopecia - epilepsy - pyorrhea - intellectual disability - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Alopecia' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'disease' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'disease' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85200 Label: Ischio-vertebral syndrome - 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ischio-vertebral syndrome' SubClassOf 'malformation syndrome' - 'Ischio-vertebral syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Ischio-vertebral syndrome' SubClassOf 'malformation syndrome' + 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ischio-vertebral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Ischio-vertebral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_400642 Label: prolactin receptor - 'prolactin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple fibroadenoma of the breast' - 'prolactin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperprolactinemia' - 'prolactin receptor' SubClassOf 'gene' + 'prolactin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple fibroadenoma of the breast' + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial hyperprolactinemia' + 'prolactin receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p14-p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1003 Label: Scalp defects - postaxial polydactyly - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Scalp defects - postaxial polydactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Scalp defects - postaxial polydactyly' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Scalp defects - postaxial polydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Scalp defects - postaxial polydactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Scalp defects - postaxial polydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85201 Label: Genitopatellar syndrome - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Genitopatellar syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Genitopatellar syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Genitopatellar syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Genitopatellar syndrome' SubClassOf 'malformation syndrome' - 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Genitopatellar syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Genitopatellar syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genitopatellar syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Genitopatellar syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293955 Label: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'part_of' some 'Disorder of thiamine metabolism and transport' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of thiamine metabolism and transport' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_85202 Label: Keutel syndrome - 'Keutel syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Keutel syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Keutel syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Keutel syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Keutel syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Keutel syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Keutel syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Keutel syndrome' SubClassOf 'malformation syndrome' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Keutel syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Keutel syndrome' SubClassOf 'malformation syndrome' + 'Keutel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Keutel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_400640 Label: goosecoid homeobox - 'goosecoid homeobox' SubClassOf 'gene' - 'goosecoid homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.13"^^http://www.w3.org/2001/XMLSchema#string + 'goosecoid homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293958 Label: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'malformation syndrome' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'malformation syndrome' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1005 Label: Alopecia-contractures-dwarfism-intellectual disability syndrome - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85203 Label: Acro-pectoral syndrome - 'Acro-pectoral syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Acro-pectoral syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Acro-pectoral syndrome' SubClassOf 'disease' - 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Acro-pectoral syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acro-pectoral syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Acro-pectoral syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Acro-pectoral syndrome' SubClassOf 'disease' + 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Acro-pectoral syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Acro-pectoral syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_398117 Label: Neonatal dermatomyositis - 'Neonatal dermatomyositis' SubClassOf 'disease' - 'Neonatal dermatomyositis' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal dermatomyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1001 Label: 2q37 microdeletion syndrome - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - '2q37 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '2q37 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q37 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q37 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '2q37 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '2q37 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + '2q37 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' + '2q37 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_319276 Label: Clear cell renal carcinoma - 'Clear cell renal carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Clear cell renal carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell renal carcinoma' SubClassOf 'histopathological subtype' + 'Clear cell renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1000 Label: Ocular albinism with late-onset sensorineural deafness - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'part_of' some 'Ocular albinism' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ocular albinism' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_251671 Label: Angiocentric glioma - 'Angiocentric glioma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' - 'Angiocentric glioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Angiocentric glioma' SubClassOf 'disease' + 'Angiocentric glioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Angiocentric glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Angiocentric glioma' SubClassOf 'disease' + 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_118194 Label: RAB3 GTPase activating protein subunit 1 (catalytic) - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'gene' - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' - 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 1 (catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251674 Label: Chordoid glioma - 'Chordoid glioma' SubClassOf 'part_of' some 'Glial tumor of the neuroepithelial tissue with unknown origin' - 'Chordoid glioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chordoid glioma' SubClassOf 'disease' + 'Chordoid glioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glial tumor of the neuroepithelial tissue with unknown origin' + 'Chordoid glioma' SubClassOf 'disease' + 'Chordoid glioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86900 Label: Interdigitating dendritic cell sarcoma - 'Interdigitating dendritic cell sarcoma' SubClassOf 'disease' - 'Interdigitating dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Interdigitating dendritic cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' + 'Interdigitating dendritic cell sarcoma' SubClassOf 'disease' + 'Interdigitating dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Interdigitating dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_55655 Label: Pneumococcal meningitis - 'Pneumococcal meningitis' SubClassOf 'disease' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Pneumococcal meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' + 'Pneumococcal meningitis' SubClassOf 'disease' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease of the nervous system' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infectious disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_231237 Label: Delta-beta-thalassemia - 'Delta-beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Delta-beta-thalassemia' SubClassOf 'disease' - 'Delta-beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Delta-beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Delta-beta-thalassemia' SubClassOf 'disease' + 'Delta-beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Delta-beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Delta-beta-thalassemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_251668 Label: Glial tumor of the neuroepithelial tissue with unknown origin - 'Glial tumor of the neuroepithelial tissue with unknown origin' SubClassOf 'group of disorders' + 'Glial tumor of the neuroepithelial tissue with unknown origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_55654 Label: Hypotrichosis simplex - 'Hypotrichosis simplex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotrichosis simplex' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypotrichosis simplex' SubClassOf 'disease' - 'Hypotrichosis simplex' SubClassOf 'part_of' some 'Alopecia' - 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypotrichosis simplex' SubClassOf 'disease' + 'Hypotrichosis simplex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypotrichosis simplex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hypotrichosis simplex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis simplex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_86904 Label: Methotrexate-associated lymphoproliferative disorders - 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'disease' - 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'part_of' some 'Immunodeficiency-associated lymphoproliferative disease' + 'Methotrexate-associated lymphoproliferative disorders' SubClassOf 'disease' + 'Methotrexate-associated lymphoproliferative disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency-associated lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_86902 Label: Follicular dendritic cell sarcoma - 'Follicular dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Follicular dendritic cell sarcoma' SubClassOf 'part_of' some 'Epstein-Barr Virus-associated mesenchymal tumor' - 'Follicular dendritic cell sarcoma' SubClassOf 'disease' - 'Follicular dendritic cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' + 'Follicular dendritic cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Follicular dendritic cell sarcoma' SubClassOf 'disease' + 'Follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr Virus-associated mesenchymal tumor' Class: http://www.orpha.net/ORDO/Orphanet_86903 Label: Dendritic cell sarcoma not otherwise specified - 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'part_of' some 'Dendritic cell tumor' - 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'disease' + 'Dendritic cell sarcoma not otherwise specified' SubClassOf 'disease' + 'Dendritic cell sarcoma not otherwise specified' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_281190 Label: Congenital reticular ichthyosiform erythroderma - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'disease' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'disease' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital reticular ichthyosiform erythroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Congenital reticular ichthyosiform erythroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_86908 Label: Idiopathic hemiconvulsion-hemiplegia syndrome - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'disease' - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'disease' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86909 Label: Myoclonic epilepsy of infancy - 'Myoclonic epilepsy of infancy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Myoclonic epilepsy of infancy' SubClassOf 'disease' - 'Myoclonic epilepsy of infancy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Myoclonic epilepsy of infancy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Myoclonic epilepsy of infancy' SubClassOf 'disease' + 'Myoclonic epilepsy of infancy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myoclonic epilepsy of infancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Myoclonic epilepsy of infancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231230 Label: Beta-thalassemia associated with another hemoglobin anomaly - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'group of disorders' + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86906 Label: Hypothalamic hamartomas with gelastic seizures - 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'disease' - 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163961 Label: X-linked intellectual disability, Kroes type - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability, Kroes type' SubClassOf 'disease' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Kroes type' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Kroes type' SubClassOf 'disease' + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Kroes type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Kroes type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Kroes type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_227390 Label: solute carrier family 34 (type II sodium/phosphate contransporter), member 1 - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' - 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'gene' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 34 (type II sodium/phosphate contransporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85212 Label: Fetal Gaucher disease - 'Fetal Gaucher disease' SubClassOf 'part_of' some 'Gaucher disease' - 'Fetal Gaucher disease' SubClassOf 'clinical subtype' - 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fetal Gaucher disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fetal Gaucher disease' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal Gaucher disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal Gaucher disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Fetal Gaucher disease' SubClassOf 'clinical subtype' + 'Fetal Gaucher disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gaucher disease' Class: http://www.orpha.net/ORDO/Orphanet_163966 Label: X-linked dominant chondrodysplasia, Chassaing-Lacombe type - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_138561 Label: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'gene' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_398124 Label: Neonatal lupus erythematosus - 'Neonatal lupus erythematosus' SubClassOf 'disease' - 'Neonatal lupus erythematosus' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal lupus erythematosus' SubClassOf 'disease' + 'Neonatal lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_400617 Label: F-box protein 38 - 'F-box protein 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' - 'F-box protein 38' SubClassOf 'gene' + 'F-box protein 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'F-box protein 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'F-box protein 38' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251643 Label: Myxopapillary ependymoma - 'Myxopapillary ependymoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Myxopapillary ependymoma' SubClassOf 'histopathological subtype' - 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myxopapillary ependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Myxopapillary ependymoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myxopapillary ependymoma' SubClassOf 'histopathological subtype' + 'Myxopapillary ependymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myxopapillary ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' + 'Myxopapillary ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_398127 Label: Neonatal scleroderma - 'Neonatal scleroderma' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' - 'Neonatal scleroderma' SubClassOf 'disease' + 'Neonatal scleroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' + 'Neonatal scleroderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118160 Label: pseudouridylate synthase 1 - 'pseudouridylate synthase 1' SubClassOf 'gene' - 'pseudouridylate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' + 'pseudouridylate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'pseudouridylate synthase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24"^^http://www.w3.org/2001/XMLSchema#string + 'pseudouridylate synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy and sideroblastic anemia' Class: http://www.orpha.net/ORDO/Orphanet_400611 Label: NFS1 cysteine desulfurase - 'NFS1 cysteine desulfurase' SubClassOf 'gene' - 'NFS1 cysteine desulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'NFS1 cysteine desulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'NFS1 cysteine desulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NFS1 cysteine desulfurase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118162 Label: poliovirus receptor-related 1 (herpesvirus entry mediator C) - 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'gene' - 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zlotogora-Ogur syndrome' + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zlotogora-Ogur syndrome' + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'poliovirus receptor-related 1 (herpesvirus entry mediator C)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23-q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138568 Label: amnion associated transmembrane protein - 'amnion associated transmembrane protein' SubClassOf 'gene' - 'amnion associated transmembrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' + 'amnion associated transmembrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'amnion associated transmembrane protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.32"^^http://www.w3.org/2001/XMLSchema#string + 'amnion associated transmembrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' Class: http://www.orpha.net/ORDO/Orphanet_326692 Label: disrupted in renal carcinoma 3 - 'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Familial renal cell carcinoma' - 'disrupted in renal carcinoma 3' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' - 'disrupted in renal carcinoma 3' SubClassOf 'gene' + 'disrupted in renal carcinoma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'disrupted in renal carcinoma 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'disrupted in renal carcinoma 3' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_293948 Label: 1p21.3 microdeletion syndrome - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' - '1p21.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '1p21.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare disease with autism' - '1p21.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' - '1p21.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '1p21.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '1p21.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 1' + '1p21.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251639 Label: Subependymoma - 'Subependymoma' SubClassOf 'histopathological subtype' - 'Subependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Subependymoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Subependymoma' SubClassOf 'histopathological subtype' + 'Subependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' + 'Subependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_357435 Label: interleukin 21 receptor - 'interleukin 21 receptor' SubClassOf 'gene' - 'interleukin 21 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cryptosporidiosis - chronic cholangitis - liver disease' + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cryptosporidiosis - chronic cholangitis - liver disease' + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 21 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251636 Label: Ependymoma - 'Ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Ependymoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ependymoma' SubClassOf 'part_of' some 'Low grade ependymoma' - 'Ependymoma' SubClassOf 'histopathological subtype' - 'Ependymoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Ependymoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ependymoma' SubClassOf 'histopathological subtype' + 'Ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low grade ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_163971 Label: X-linked intellectual disability, Cilliers type - 'X-linked intellectual disability, Cilliers type' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'disease' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Cilliers type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Cilliers type' SubClassOf 'disease' + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Cilliers type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Cilliers type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_227397 Label: protein tyrosine phosphatase, receptor type, Q - 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'gene' + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_138575 Label: C1q and tumor necrosis factor related protein 5 - 'C1q and tumor necrosis factor related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset retinal degeneration' - 'C1q and tumor necrosis factor related protein 5' SubClassOf 'gene' + 'C1q and tumor necrosis factor related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'C1q and tumor necrosis factor related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset retinal degeneration' + 'C1q and tumor necrosis factor related protein 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293936 Label: EDICT syndrome - 'EDICT syndrome' SubClassOf 'part_of' some 'Syndromic keratoconus' - 'EDICT syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'EDICT syndrome' SubClassOf 'disease' - 'EDICT syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'EDICT syndrome' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'EDICT syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'EDICT syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'EDICT syndrome' SubClassOf 'disease' + 'EDICT syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic keratoconus' Class: http://www.orpha.net/ORDO/Orphanet_163979 Label: X-linked intellectual disability - craniofacioskeletal syndrome - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'disease' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'disease' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_138578 Label: insulin-like growth factor 1 receptor - 'insulin-like growth factor 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor I resistance' - 'insulin-like growth factor 1 receptor' SubClassOf 'gene' + 'insulin-like growth factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth delay due to insulin-like growth factor I resistance' + 'insulin-like growth factor 1 receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163976 Label: X-linked intellectual disability, Van Esch type - 'X-linked intellectual disability, Van Esch type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Van Esch type' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Van Esch type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Van Esch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'X-linked intellectual disability, Van Esch type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Van Esch type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_227384 Label: BLK proto-oncogene, Src family tyrosine kinase - 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'gene' - 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8p23-p22"^^http://www.w3.org/2001/XMLSchema#string + 'BLK proto-oncogene, Src family tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'MODY syndrome' Class: http://www.orpha.net/ORDO/Orphanet_282166 Label: Inherited Creutzfeldt-Jakob disease - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Inherited prion disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' - 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease' + 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited prion disease' Class: http://www.orpha.net/ORDO/Orphanet_400623 Label: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'gene' - 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Activated PIK3-delta syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Activated PIK3-delta syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251651 Label: Oligoastrocytic tumor - 'Oligoastrocytic tumor' SubClassOf 'group of disorders' + 'Oligoastrocytic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118174 Label: peroxisomal biogenesis factor 2 - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 2' SubClassOf 'gene' - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_319298 Label: Papillary renal cell carcinoma - 'Papillary renal cell carcinoma' SubClassOf 'histopathological subtype' - 'Papillary renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Papillary renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_293939 Label: Distal Xq28 microduplication syndrome - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Distal Xq28 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X' - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Distal Xq28 microduplication syndrome' SubClassOf 'malformation syndrome' - 'Distal Xq28 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Distal Xq28 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome X' + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Distal Xq28 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal Xq28 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357449 Label: cysteinyl-tRNA synthetase - 'cysteinyl-tRNA synthetase' SubClassOf 'gene' - 'cysteinyl-tRNA synthetase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' + 'cysteinyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cysteinyl-tRNA synthetase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cysteinyl-tRNA synthetase' SubClassOf 'Part of a fusion gene in' some 'Inflammatory myofibroblastic tumor' Class: http://www.orpha.net/ORDO/Orphanet_251646 Label: Anaplastic ependymoma - 'Anaplastic ependymoma' SubClassOf 'disease' - 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Anaplastic ependymoma' SubClassOf 'part_of' some 'Ependymal tumor' + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic ependymoma' SubClassOf 'disease' + 'Anaplastic ependymoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ependymal tumor' + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Anaplastic ependymoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_231214 Label: Beta-thalassemia major - 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beta-thalassemia major' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Beta-thalassemia major' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Beta-thalassemia major' SubClassOf 'disease' - 'Beta-thalassemia major' SubClassOf 'has_prevalence' some 'Unknown' + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410010) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "160.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia' + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beta-thalassemia major' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beta-thalassemia major' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410158) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "40.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Beta-thalassemia major' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Beta-thalassemia major' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163985 Label: Hyperekplexia - epilepsy - 'Hyperekplexia - epilepsy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'Hyperekplexia' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'X-linked intellectual disability - epilepsy' - 'Hyperekplexia - epilepsy' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hyperekplexia - epilepsy' SubClassOf 'disease' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Hyperekplexia - epilepsy' SubClassOf 'part_of' some 'Rare genetic movement disorder' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked intellectual disability - epilepsy' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Hyperekplexia - epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hyperekplexia - epilepsy' SubClassOf 'disease' + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic movement disorder' + 'Hyperekplexia - epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hyperekplexia - epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperekplexia' Class: http://www.orpha.net/ORDO/Orphanet_163982 Label: X-linked intellectual disability - spastic quadriparesis - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'disease' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'disease' + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - spastic quadriparesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_138570 Label: FYVE, RhoGEF and PH domain containing 4 - 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4H' - 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'gene' + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4H' + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p11.1"^^http://www.w3.org/2001/XMLSchema#string + 'FYVE, RhoGEF and PH domain containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_227387 Label: heat shock 27kDa protein 3 - 'heat shock 27kDa protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' - 'heat shock 27kDa protein 3' SubClassOf 'gene' + 'heat shock 27kDa protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heat shock 27kDa protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'heat shock 27kDa protein 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216820 Label: Osteogenesis imperfecta type 4 - 'Osteogenesis imperfecta type 4' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 4' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 4' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Osteogenesis imperfecta type 4' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_160296 Label: KN motif and ankyrin repeat domains 1 - 'KN motif and ankyrin repeat domains 1' SubClassOf 'gene' - 'KN motif and ankyrin repeat domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' + 'KN motif and ankyrin repeat domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KN motif and ankyrin repeat domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p24.3"^^http://www.w3.org/2001/XMLSchema#string + 'KN motif and ankyrin repeat domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' Class: http://www.orpha.net/ORDO/Orphanet_254818 Label: Ataxia neuropathy spectrum - 'Ataxia neuropathy spectrum' SubClassOf 'group of disorders' + 'Ataxia neuropathy spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121989 Label: gamma-aminobutyric acid (GABA) A receptor, alpha 1 - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' - 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_189325 Label: VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) - 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with excessive autophagy' - 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'gene' + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with excessive autophagy' + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216828 Label: Osteogenesis imperfecta type 5 - 'Osteogenesis imperfecta type 5' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 5' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Osteogenesis imperfecta type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 5' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_357506 Label: Genetic non-syndromic renal or urinary tract malformation - 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' + 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_322104 Label: leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 - 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'gene' - 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25"^^http://www.w3.org/2001/XMLSchema#string + 'leucine-rich repeat, immunoglobulin-like and transmembrane domains 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_93399 Label: Juvenile sialidosis type 2 - 'Juvenile sialidosis type 2' SubClassOf 'part_of' some 'Sialidosis type 2' - 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' + 'Juvenile sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis type 2' + 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_357502 Label: Idiopathic nephrotic syndrome - 'Idiopathic nephrotic syndrome' SubClassOf 'group of disorders' + 'Idiopathic nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Idiopathic nephrotic syndrome' SubClassOf 'group of disorders' + 'Idiopathic nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Idiopathic nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_299169 Label: microRNA 184 - 'microRNA 184' SubClassOf 'Disease-causing germline mutation(s) in' some 'EDICT syndrome' - 'microRNA 184' SubClassOf 'gene' + 'microRNA 184' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'microRNA 184' SubClassOf 'Disease-causing germline mutation(s) in' some 'EDICT syndrome' + 'microRNA 184' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_99135 Label: 6-phosphogluconate dehydrogenase deficiency - '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'disease' - '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' + '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'disease' + '6-phosphogluconate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' Class: http://www.orpha.net/ORDO/Orphanet_284362 Label: Fetal lung interstitial tumor - 'Fetal lung interstitial tumor' SubClassOf 'clinical subtype' - 'Fetal lung interstitial tumor' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' - 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fetal lung interstitial tumor' SubClassOf 'clinical subtype' + 'Fetal lung interstitial tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Fetal lung interstitial tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' Class: http://www.orpha.net/ORDO/Orphanet_99138 Label: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of purine metabolism' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_99139 Label: Unstable hemoglobin disease - 'Unstable hemoglobin disease' SubClassOf 'disease' - 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Unstable hemoglobin disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemoglobinopathy' + 'Unstable hemoglobin disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121997 Label: UDP-galactose-4-epimerase - 'UDP-galactose-4-epimerase' SubClassOf 'gene' - 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrocyte galactose epimerase deficiency' - 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36-p35"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythrocyte galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized galactose epimerase deficiency' + 'UDP-galactose-4-epimerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_396650 Label: PET100 homolog (S. cerevisiae) - 'PET100 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'PET100 homolog (S. cerevisiae)' SubClassOf 'gene' + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cytochrome C oxidase deficiency' + 'PET100 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121995 Label: galactosylceramidase - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult Krabbe disease' - 'galactosylceramidase' SubClassOf 'gene' - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-infantile/juvenile Krabbe disease' - 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' + 'galactosylceramidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31"^^http://www.w3.org/2001/XMLSchema#string + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult Krabbe disease' + 'galactosylceramidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-infantile/juvenile Krabbe disease' + 'galactosylceramidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Krabbe disease' Class: http://www.orpha.net/ORDO/Orphanet_254822 Label: Mitochondrial oxidative phosphorylation disorder with no known mechanism - 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of disorders' + 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99130 Label: Congenital partial agenesis of pericardium - 'Congenital partial agenesis of pericardium' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Congenital partial agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital partial agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital partial agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121993 Label: gamma-aminobutyric acid (GABA) A receptor, gamma 2 - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'gene' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q34"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99131 Label: Pleuro-pericardial cyst - 'Pleuro-pericardial cyst' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Pleuro-pericardial cyst' SubClassOf 'morphological anomaly' + 'Pleuro-pericardial cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' + 'Pleuro-pericardial cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_396654 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Isolated cytochrome C oxidase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_299166 Label: cytochrome P450, family 26, subfamily B, polypeptide 1 - 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal occipital encephalocele-skeletal dysplasia syndrome' - 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal occipital encephalocele-skeletal dysplasia syndrome' + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p12"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 26, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121991 Label: gamma-aminobutyric acid (GABA) A receptor, delta - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'gene' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Major susceptibility factor in' some 'Juvenile myoclonic epilepsy' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3"^^http://www.w3.org/2001/XMLSchema#string + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Role in the phenotype of' some '1p36 deletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254803 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial DNA depletion syndrome' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_235504 Label: ets variant 4 - 'ets variant 4' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' - 'ets variant 4' SubClassOf 'gene' + 'ets variant 4' SubClassOf 'Part of a fusion gene in' some 'Ewing sarcoma' + 'ets variant 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ets variant 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160283 Label: glycogen synthase 1 (muscle) - 'glycogen synthase 1 (muscle)' SubClassOf 'gene' - 'glycogen synthase 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' + 'glycogen synthase 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycogen synthase 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' + 'glycogen synthase 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160288 Label: MARVEL domain containing 2 - 'MARVEL domain containing 2' SubClassOf 'gene' - 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'MARVEL domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'MARVEL domain containing 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_121999 Label: galactokinase 1 - 'galactokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactokinase deficiency' - 'galactokinase 1' SubClassOf 'gene' + 'galactokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'galactokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactokinase deficiency' + 'galactokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_254807 Label: Multiple mitochondrial DNA deletion syndrome - 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of disorders' + 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309854 Label: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Disorder of manganese transport' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare metabolic liver disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of manganese transport' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93389 Label: Brachydactyly type A5 - 'Brachydactyly type A5' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A5' SubClassOf 'malformation syndrome' + 'Brachydactyly type A5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A5' SubClassOf 'malformation syndrome' + 'Brachydactyly type A5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_216812 Label: Osteogenesis imperfecta type 3 - 'Osteogenesis imperfecta type 3' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 3' SubClassOf 'part_of' some 'Rare disease with dentinogenesis imperfecta' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteogenesis imperfecta type 3' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with dentinogenesis imperfecta' + 'Osteogenesis imperfecta type 3' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93388 Label: Brachydactyly type A1 - 'Brachydactyly type A1' SubClassOf 'malformation syndrome' - 'Brachydactyly type A1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A1' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type A1' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly type A1' SubClassOf 'malformation syndrome' + 'Brachydactyly type A1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_171201 Label: High anorectal malformation - 'High anorectal malformation' SubClassOf 'morphological anomaly' - 'High anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'High anorectal malformation' SubClassOf 'morphological anomaly' + 'High anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_93395 Label: Ballard syndrome - 'Ballard syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Ballard syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ballard syndrome' SubClassOf 'malformation syndrome' - 'Ballard syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ballard syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Ballard syndrome' SubClassOf 'malformation syndrome' + 'Ballard syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ballard syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ballard syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_99147 Label: Acquired von Willebrand syndrome - 'Acquired von Willebrand syndrome' SubClassOf 'disease' - 'Acquired von Willebrand syndrome' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' - 'Acquired von Willebrand syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired von Willebrand syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Acquired von Willebrand syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Acquired von Willebrand syndrome' SubClassOf 'disease' + 'Acquired von Willebrand syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired von Willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to an acquired coagulation factor defect' + 'Acquired von Willebrand syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_93396 Label: Brachydactyly type A2 - 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A2' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A2' SubClassOf 'malformation syndrome' - 'Brachydactyly type A2' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type A2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A2' SubClassOf 'malformation syndrome' + 'Brachydactyly type A2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_178795 Label: cyclin M4 - 'cyclin M4' SubClassOf 'gene' - 'cyclin M4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jalili syndrome' + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Jalili syndrome' + 'cyclin M4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93397 Label: Brachydactyly type A7 - 'Brachydactyly type A7' SubClassOf 'malformation syndrome' - 'Brachydactyly type A7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A7' SubClassOf 'part_of' some 'Syndrome with brachydactyly' + 'Brachydactyly type A7' SubClassOf 'malformation syndrome' + 'Brachydactyly type A7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93398 Label: Genochondromatosis type 2 - 'Genochondromatosis type 2' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Genochondromatosis type 2' SubClassOf 'disease' + 'Genochondromatosis type 2' SubClassOf 'disease' + 'Genochondromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_93394 Label: Brachydactyly type A4 - 'Brachydactyly type A4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type A4' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A4' SubClassOf 'malformation syndrome' - 'Brachydactyly type A4' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type A4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A4' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309851 Label: Disorder of manganese transport - 'Disorder of manganese transport' SubClassOf 'group of disorders' + 'Disorder of manganese transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2502 Label: Metaphyseal dysostosis - intellectual disability - conductive deafness - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'malformation syndrome' - 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'malformation syndrome' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2505 Label: Multiple benign circumferential skin creases on limbs - 'Multiple benign circumferential skin creases on limbs' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Multiple benign circumferential skin creases on limbs' SubClassOf 'disease' + 'Multiple benign circumferential skin creases on limbs' SubClassOf 'disease' + 'Multiple benign circumferential skin creases on limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' Class: http://www.orpha.net/ORDO/Orphanet_330061 Label: Actinic prurigo - 'Actinic prurigo' SubClassOf 'has_inheritance' some 'sporadic' - 'Actinic prurigo' SubClassOf 'disease' - 'Actinic prurigo' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Actinic prurigo' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Actinic prurigo' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Actinic prurigo' SubClassOf 'has_prevalence' some 'Unknown' + 'Actinic prurigo' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Actinic prurigo' SubClassOf 'disease' + 'Actinic prurigo' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Actinic prurigo' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Actinic prurigo' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2504 Label: Metaphyseal dysplasia - maxillary hypoplasia - brachydacty - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'malformation syndrome' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'malformation syndrome' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' + 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_330064 Label: Chronic actinic dermatitis - 'Chronic actinic dermatitis' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Chronic actinic dermatitis' SubClassOf 'disease' - 'Chronic actinic dermatitis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Chronic actinic dermatitis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Chronic actinic dermatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Chronic actinic dermatitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Chronic actinic dermatitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Chronic actinic dermatitis' SubClassOf 'disease' + 'Chronic actinic dermatitis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_178791 Label: ADAMTS-like 4 - 'ADAMTS-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' - 'ADAMTS-like 4' SubClassOf 'gene' + 'ADAMTS-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ADAMTS-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated ectopia lentis' + 'ADAMTS-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2501 Label: Metaphyseal chondrodysplasia, Spahr type - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'disease' - 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'disease' + 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple metaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2500 Label: Acrogeria - 'Acrogeria' SubClassOf 'malformation syndrome' - 'Acrogeria' SubClassOf 'part_of' some 'Premature aging' + 'Acrogeria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Acrogeria' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309842 Label: Disorder of iron metabolism and transport - 'Disorder of iron metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of iron metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_34149 Label: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'disease' + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309845 Label: Disorder of zinc metabolism - 'Disorder of zinc metabolism' SubClassOf 'group of disorders' + 'Disorder of zinc metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309848 Label: Disorder of magnesium transport - 'Disorder of magnesium transport' SubClassOf 'group of disorders' + 'Disorder of magnesium transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99109 Label: Persistent left superior vena cava connecting to the left-sided atrium - 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'morphological anomaly' + 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Persistent left superior vena cava connecting to the left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99108 Label: Patent foramen ovale - 'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Patent foramen ovale' SubClassOf 'morphological anomaly' + 'Patent foramen ovale' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Patent foramen ovale' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93382 Label: Brachydactyly type A6 - 'Brachydactyly type A6' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type A6' SubClassOf 'malformation syndrome' - 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type A6' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Brachydactyly type A6' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type A6' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type A6' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly type A6' SubClassOf 'malformation syndrome' + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type A6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type A6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type A6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_93383 Label: Brachydactyly type B - 'Brachydactyly type B' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type B' SubClassOf 'malformation syndrome' - 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type B' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly type B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Brachydactyly type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type B' SubClassOf 'malformation syndrome' + 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99117 Label: Coronary sinus stenosis - 'Coronary sinus stenosis' SubClassOf 'part_of' some 'Congenital anomaly of the coronary sinus' - 'Coronary sinus stenosis' SubClassOf 'morphological anomaly' + 'Coronary sinus stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the coronary sinus' + 'Coronary sinus stenosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_284388 Label: Reversible cerebral vasoconstriction syndrome - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'clinical syndrome' - 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'part_of' some 'Rare headache' + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Reversible cerebral vasoconstriction syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare headache' + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Reversible cerebral vasoconstriction syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99118 Label: Coronary sinus atresia - 'Coronary sinus atresia' SubClassOf 'morphological anomaly' - 'Coronary sinus atresia' SubClassOf 'part_of' some 'Congenital anomaly of the coronary sinus' + 'Coronary sinus atresia' SubClassOf 'morphological anomaly' + 'Coronary sinus atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the coronary sinus' Class: http://www.orpha.net/ORDO/Orphanet_99111 Label: Left superior vena cava persisting to left-sided atrium - 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Left superior vena cava persisting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Left superior vena cava persisting to left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289891 Label: Hypermethioninemia due to glycine N-methyltransferase deficiency - 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' - 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'part_of' some 'Disorder of methionine cycle and sulfur amino acid metabolism' + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of methionine cycle and sulfur amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_99112 Label: Absence of innominate vein - 'Absence of innominate vein' SubClassOf 'morphological anomaly' - 'Absence of innominate vein' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' + 'Absence of innominate vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Absence of innominate vein' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93387 Label: Brachydactyly type E - 'Brachydactyly type E' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type E' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type E' SubClassOf 'malformation syndrome' - 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type E' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly type E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type E' SubClassOf 'malformation syndrome' + 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type E' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_400703 Label: integrin, beta 6 - 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' - 'integrin, beta 6' SubClassOf 'gene' - 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q24.2"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Hypoplastic amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_99113 Label: Subaortic course of innominate vein - 'Subaortic course of innominate vein' SubClassOf 'morphological anomaly' - 'Subaortic course of innominate vein' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' + 'Subaortic course of innominate vein' SubClassOf 'morphological anomaly' + 'Subaortic course of innominate vein' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_93384 Label: Brachydactyly type C - 'Brachydactyly type C' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Brachydactyly type C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Brachydactyly type C' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactyly type C' SubClassOf 'malformation syndrome' - 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly type C' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachydactyly type C' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Brachydactyly type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly type C' SubClassOf 'malformation syndrome' + 'Brachydactyly type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_99114 Label: Agenesis of the superior vena cava - 'Agenesis of the superior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Agenesis of the superior vena cava' SubClassOf 'morphological anomaly' + 'Agenesis of the superior vena cava' SubClassOf 'morphological anomaly' + 'Agenesis of the superior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_284385 Label: Familial intrahepatic cholestasis - 'Familial intrahepatic cholestasis' SubClassOf 'group of disorders' + 'Familial intrahepatic cholestasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121972 Label: FXYD domain containing ion transport regulator 2 - 'FXYD domain containing ion transport regulator 2' SubClassOf 'gene' - 'FXYD domain containing ion transport regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' + 'FXYD domain containing ion transport regulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'FXYD domain containing ion transport regulator 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FXYD domain containing ion transport regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant primary hypomagnesemia with hypocalciuria' Class: http://www.orpha.net/ORDO/Orphanet_299186 Label: thiamin pyrophosphokinase 1 - 'thiamin pyrophosphokinase 1' SubClassOf 'gene' - 'thiamin pyrophosphokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' + 'thiamin pyrophosphokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34-q35"^^http://www.w3.org/2001/XMLSchema#string + 'thiamin pyrophosphokinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' + 'thiamin pyrophosphokinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_289897 Label: glycine N-methyltransferase - 'glycine N-methyltransferase' SubClassOf 'gene' - 'glycine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia due to glycine N-methyltransferase deficiency' + 'glycine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glycine N-methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p12"^^http://www.w3.org/2001/XMLSchema#string + 'glycine N-methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypermethioninemia due to glycine N-methyltransferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99110 Label: Right superior vena cava connecting to left-sided atrium - 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Right superior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of superior vena cava' + 'Right superior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289899 Label: Organic aciduria - 'Organic aciduria' SubClassOf 'group of disorders' + 'Organic aciduria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309833 Label: Disorder of other vitamins and cofactors metabolism and transport - 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of disorders' + 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121977 Label: frizzled class receptor 4 - 'frizzled class receptor 4' SubClassOf 'gene' - 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' - 'frizzled class receptor 4' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' - 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' + 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial exudative vitreoretinopathy' + 'frizzled class receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'frizzled class receptor 4' SubClassOf 'Major susceptibility factor in' some 'Retinopathy of prematurity' + 'frizzled class receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14-q21"^^http://www.w3.org/2001/XMLSchema#string + 'frizzled class receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Persistent hyperplastic primary vitreous' Class: http://www.orpha.net/ORDO/Orphanet_309830 Label: Disorder of catecholamine synthesis - 'Disorder of catecholamine synthesis' SubClassOf 'group of disorders' + 'Disorder of catecholamine synthesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309836 Label: Disorder of mineral absorption and transport - 'Disorder of mineral absorption and transport' SubClassOf 'group of disorders' + 'Disorder of mineral absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93367 Label: CINCA syndrome without CIAS1 mutations - 'CINCA syndrome without CIAS1 mutations' SubClassOf 'part_of' some 'CINCA syndrome' - 'CINCA syndrome without CIAS1 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome without CIAS1 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome without CIAS1 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CINCA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309839 Label: Disorder of copper metabolism - 'Disorder of copper metabolism' SubClassOf 'group of disorders' + 'Disorder of copper metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99119 Label: Right inferior vena cava connecting to left-sided atrium - 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' - 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Right inferior vena cava connecting to left-sided atrium' SubClassOf 'morphological anomaly' + 'Right inferior vena cava connecting to left-sided atrium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99129 Label: Congenital complete agenesis of pericardium - 'Congenital complete agenesis of pericardium' SubClassOf 'part_of' some 'Congenital pericardium anomaly' - 'Congenital complete agenesis of pericardium' SubClassOf 'morphological anomaly' + 'Congenital complete agenesis of pericardium' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pericardium anomaly' + 'Congenital complete agenesis of pericardium' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93372 Label: Familial hypocalciuric hypercalcemia type 1 - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'part_of' some 'Familial hypocalciuric hypercalcemia' - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'etiological subtype' - 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'etiological subtype' + 'Familial hypocalciuric hypercalcemia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hypocalciuric hypercalcemia' Class: http://www.orpha.net/ORDO/Orphanet_99124 Label: Congenital partial pulmonary venous return anomaly - 'Congenital partial pulmonary venous return anomaly' SubClassOf 'morphological anomaly' - 'Congenital partial pulmonary venous return anomaly' SubClassOf 'part_of' some 'Congenital pulmonary venous return anomaly' + 'Congenital partial pulmonary venous return anomaly' SubClassOf 'morphological anomaly' + 'Congenital partial pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary venous return anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99125 Label: Congenital total pulmonary venous return anomaly - 'Congenital total pulmonary venous return anomaly' SubClassOf 'morphological anomaly' - 'Congenital total pulmonary venous return anomaly' SubClassOf 'part_of' some 'Congenital pulmonary venous return anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pulmonary venous return anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf 'morphological anomaly' + 'Congenital total pulmonary venous return anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "6.67"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_99122 Label: Congenital stenosis of the inferior vena cava - 'Congenital stenosis of the inferior vena cava' SubClassOf 'morphological anomaly' - 'Congenital stenosis of the inferior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Congenital stenosis of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Congenital stenosis of the inferior vena cava' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99123 Label: Inferior vena cava interruption - 'Inferior vena cava interruption' SubClassOf 'morphological anomaly' - 'Inferior vena cava interruption' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Inferior vena cava interruption' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Inferior vena cava interruption' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99120 Label: Persistent eustachian valve - 'Persistent eustachian valve' SubClassOf 'morphological anomaly' - 'Persistent eustachian valve' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Persistent eustachian valve' SubClassOf 'morphological anomaly' + 'Persistent eustachian valve' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' Class: http://www.orpha.net/ORDO/Orphanet_99121 Label: Azygos continuation of the inferior vena cava - 'Azygos continuation of the inferior vena cava' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' - 'Azygos continuation of the inferior vena cava' SubClassOf 'morphological anomaly' + 'Azygos continuation of the inferior vena cava' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital anomaly of the inferior vena cava' + 'Azygos continuation of the inferior vena cava' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121980 Label: glucose-6-phosphatase, catalytic subunit - 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'gene' - 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' + 'glucose-6-phosphatase, catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' + 'glucose-6-phosphatase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21"^^http://www.w3.org/2001/XMLSchema#string + 'glucose-6-phosphatase, catalytic subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121987 Label: glucosidase, alpha; acid - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, adult onset' - 'glucosidase, alpha; acid' SubClassOf 'gene' - 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, infantile onset' + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, adult onset' + 'glucosidase, alpha; acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'glucosidase, alpha; acid' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to acid maltase deficiency, infantile onset' + 'glucosidase, alpha; acid' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.2-q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_118111 Label: phosphoserine phosphatase - 'phosphoserine phosphatase' SubClassOf 'gene' - 'phosphoserine phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoserine phosphatase deficiency' + 'phosphoserine phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphoserine phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some '3-phosphoserine phosphatase deficiency' + 'phosphoserine phosphatase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319314 Label: Renal cell carcinoma associated with neuroblastoma - 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'histopathological subtype' + 'Renal cell carcinoma associated with neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Renal cell carcinoma associated with neuroblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118114 Label: proline-serine-threonine phosphatase interacting protein 1 - 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'gene' - 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic arthritis - pyoderma gangrenosum - acne' + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'proline-serine-threonine phosphatase interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyogenic arthritis - pyoderma gangrenosum - acne' Class: http://www.orpha.net/ORDO/Orphanet_309827 Label: Disorder of vitamin and non-protein cofactor absorption and transport� - 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of disorders' + 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120819 Label: cysteine-rich with EGF-like domains 1 - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - left heart obstruction' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - ventricle hypoplasia' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'gene' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - Fallot tetralogy' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - left heart obstruction' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'cysteine-rich with EGF-like domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319319 Label: Renal medullary carcinoma - 'Renal medullary carcinoma' SubClassOf 'histopathological subtype' - 'Renal medullary carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Renal medullary carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Renal medullary carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_216866 Label: Classic pantothenate kinase-associated neurodegeneration - 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' - 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Pantothenate kinase-associated neurodegeneration' + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pantothenate kinase-associated neurodegeneration' Class: http://www.orpha.net/ORDO/Orphanet_304455 Label: GATA zinc finger domain containing 1 - 'GATA zinc finger domain containing 1' SubClassOf 'gene' - 'GATA zinc finger domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'GATA zinc finger domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GATA zinc finger domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'GATA zinc finger domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_309824 Label: Disorder of metabolite absorption and transport - 'Disorder of metabolite absorption and transport' SubClassOf 'group of disorders' + 'Disorder of metabolite absorption and transport' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300525 Label: Pseudohypoaldosteronism type 2D - 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoaldosteronism type 2D' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudohypoaldosteronism type 2D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_254857 Label: Lethal infantile mitochondrial myopathy - 'Lethal infantile mitochondrial myopathy' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' - 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lethal infantile mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' + 'Lethal infantile mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_270208 Label: GIPC PDZ domain containing family, member 3 - 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'GIPC PDZ domain containing family, member 3' SubClassOf 'gene' + 'GIPC PDZ domain containing family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'GIPC PDZ domain containing family, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120811 Label: cereblon - 'cereblon' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' - 'cereblon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'cereblon' SubClassOf 'gene' + 'cereblon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cereblon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p26.3"^^http://www.w3.org/2001/XMLSchema#string + 'cereblon' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 3p' + 'cereblon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_120814 Label: CREB binding protein - 'CREB binding protein' SubClassOf 'gene' - 'CREB binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rubinstein-Taybi syndrome due to CREBBP mutations' - 'CREB binding protein' SubClassOf 'Role in the phenotype of' some 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' - 'CREB binding protein' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'CREB binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CREB binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rubinstein-Taybi syndrome due to CREBBP mutations' + 'CREB binding protein' SubClassOf 'Role in the phenotype of' some 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' + 'CREB binding protein' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with t(8;16)(p11;p13) translocation' + 'CREB binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2528 Label: Microcephaly-microcornea syndrome, Seemanova type - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'malformation syndrome' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' - 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic developmental defect of the eye' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99170 Label: Tarsal kink syndrome - 'Tarsal kink syndrome' SubClassOf 'part_of' some 'Congenital entropion' - 'Tarsal kink syndrome' SubClassOf 'morphological anomaly' + 'Tarsal kink syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital entropion' + 'Tarsal kink syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121953 Label: ferritin, light polypeptide - 'ferritin, light polypeptide' SubClassOf 'gene' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroferritinopathy' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic hyperferritinemia without iron overload' - 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary hyperferritinemia with congenital cataracts' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroferritinopathy' + 'ferritin, light polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic hyperferritinemia without iron overload' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Hereditary hyperferritinemia with congenital cataracts' + 'ferritin, light polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_398073 Label: Prader-Willi-like syndrome - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Prader-Willi-like syndrome' SubClassOf 'disease' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' - 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease with psychiatric involvement' + 'Prader-Willi-like syndrome' SubClassOf 'disease' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289877 Label: Transient hyperammonemia of the newborn - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Rare respiratory disease' - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Transient hyperammonemia of the newborn' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Transient hyperammonemia of the newborn' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare respiratory disease' + 'Transient hyperammonemia of the newborn' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2538 Label: Microgastria - limb reduction defect - 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microgastria - limb reduction defect' SubClassOf 'part_of' some 'Syndromic gastroduodenal malformation' - 'Microgastria - limb reduction defect' SubClassOf 'malformation syndrome' - 'Microgastria - limb reduction defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microgastria - limb reduction defect' SubClassOf 'has_inheritance' some 'sporadic' - 'Microgastria - limb reduction defect' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microgastria - limb reduction defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic gastroduodenal malformation' + 'Microgastria - limb reduction defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microgastria - limb reduction defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microgastria - limb reduction defect' SubClassOf 'malformation syndrome' + 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microgastria - limb reduction defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Microgastria - limb reduction defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_99172 Label: Euryblepharon - 'Euryblepharon' SubClassOf 'morphological anomaly' - 'Euryblepharon' SubClassOf 'part_of' some 'Congenital ectropion' + 'Euryblepharon' SubClassOf 'morphological anomaly' + 'Euryblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' Class: http://www.orpha.net/ORDO/Orphanet_85288 Label: X-linked intellectual disability, Stocco Dos Santos type - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141265 Label: Tessier number 6 facial cleft - 'Tessier number 6 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' - 'Tessier number 6 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 6 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' + 'Tessier number 6 facial cleft' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121951 Label: formimidoyltransferase cyclodeaminase - 'formimidoyltransferase cyclodeaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Formiminoglutamic aciduria' - 'formimidoyltransferase cyclodeaminase' SubClassOf 'gene' + 'formimidoyltransferase cyclodeaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'formimidoyltransferase cyclodeaminase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Formiminoglutamic aciduria' + 'formimidoyltransferase cyclodeaminase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2535 Label: Microcornea - corectopia - macular hypoplasia - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'malformation syndrome' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'malformation syndrome' + 'Microcornea - corectopia - macular hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_99171 Label: Isolated congenital ectropion - 'Isolated congenital ectropion' SubClassOf 'morphological anomaly' - 'Isolated congenital ectropion' SubClassOf 'part_of' some 'Congenital ectropion' + 'Isolated congenital ectropion' SubClassOf 'morphological anomaly' + 'Isolated congenital ectropion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital ectropion' Class: http://www.orpha.net/ORDO/Orphanet_85289 Label: X-linked intellectual disability, Vitale type - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Vitale type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Vitale type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Vitale type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Vitale type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Vitale type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Vitale type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Vitale type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Vitale type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123675 Label: N-acetylglutamate synthase - 'N-acetylglutamate synthase' SubClassOf 'gene' - 'N-acetylglutamate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' + 'N-acetylglutamate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglutamate synthase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylglutamate synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_217619 Label: Syndrome associated with dilated cardiomyopathy - 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2536 Label: Microcornea - glaucoma - absent frontal sinuses - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'malformation syndrome' - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'part_of' some 'Developmental defect of the eye' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'malformation syndrome' + 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_85286 Label: X-linked intellectual disability, Shashi type - 'X-linked intellectual disability, Shashi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Shashi type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Shashi type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Shashi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Shashi type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217616 Label: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2533 Label: Microcephaly - deafness - intellectual disability - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Microcephaly - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - deafness - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85287 Label: X-linked intellectual disability, Siderius type - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Siderius type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Siderius type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Siderius type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Siderius type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Siderius type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Siderius type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99176 Label: Congenital eyelid retraction - 'Congenital eyelid retraction' SubClassOf 'part_of' some 'Congenital upper palpebral retraction' - 'Congenital eyelid retraction' SubClassOf 'morphological anomaly' + 'Congenital eyelid retraction' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital upper palpebral retraction' + 'Congenital eyelid retraction' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85284 Label: BRESEK syndrome - 'BRESEK syndrome' SubClassOf 'malformation syndrome' - 'BRESEK syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'BRESEK syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'BRESEK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'BRESEK syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'BRESEK syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'BRESEK syndrome' SubClassOf 'malformation syndrome' + 'BRESEK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'BRESEK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'BRESEK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_141269 Label: Lateral facial cleft - 'Lateral facial cleft' SubClassOf 'group of disorders' + 'Lateral facial cleft' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85285 Label: X-linked intellectual disability, Schimke type - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Schimke type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Schimke type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Schimke type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Schimke type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Schimke type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Schimke type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_398079 Label: Prader-Willi-like syndrome due to point mutation - 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi-like syndrome' - 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi-like syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254864 Label: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85282 Label: MEHMO syndrome - 'MEHMO syndrome' SubClassOf 'malformation syndrome' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with peripheral neuropathy' - 'MEHMO syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'MEHMO syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MEHMO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MEHMO syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MEHMO syndrome' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with epilepsy' + 'MEHMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'MEHMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'MEHMO syndrome' SubClassOf 'malformation syndrome' + 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MEHMO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MEHMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disease with peripheral neuropathy' + 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99177 Label: Isolated distichiasis - 'Isolated distichiasis' SubClassOf 'part_of' some 'Eyebrow/eyelashes distichiasis' - 'Isolated distichiasis' SubClassOf 'morphological anomaly' + 'Isolated distichiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyebrow/eyelashes distichiasis' + 'Isolated distichiasis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85283 Label: X-linked intellectual disability, Miles-Carpenter type - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217613 Label: Mitochondrial disease with dilated cardiomyopathy - 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85280 Label: X-linked intellectual disability - cubitus valgus - dysmorphism - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_217610 Label: Neuromuscular disease with dilated cardiomyopathy - 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99179 Label: Kandori fleck retina - 'Kandori fleck retina' SubClassOf 'malformation syndrome' - 'Kandori fleck retina' SubClassOf 'part_of' some 'Familial flecked retinopathy' + 'Kandori fleck retina' SubClassOf 'malformation syndrome' + 'Kandori fleck retina' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' Class: http://www.orpha.net/ORDO/Orphanet_123672 Label: N-acetylglucosaminidase, alpha - 'N-acetylglucosaminidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type B' - 'N-acetylglucosaminidase, alpha' SubClassOf 'gene' + 'N-acetylglucosaminidase, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sanfilippo syndrome type B' + 'N-acetylglucosaminidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylglucosaminidase, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284324 Label: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'disease' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'disease' + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141261 Label: Tessier number 5 facial cleft - 'Tessier number 5 facial cleft' SubClassOf 'morphological anomaly' - 'Tessier number 5 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' + 'Tessier number 5 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 5 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_265487 Label: dpy-19-like 2 (C. elegans) - 'dpy-19-like 2 (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' - 'dpy-19-like 2 (C. elegans)' SubClassOf 'gene' + 'dpy-19-like 2 (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'dpy-19-like 2 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'dpy-19-like 2 (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319325 Label: Tubulocystic carcinoma - 'Tubulocystic carcinoma' SubClassOf 'histopathological subtype' - 'Tubulocystic carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Tubulocystic carcinoma' SubClassOf 'histopathological subtype' + 'Tubulocystic carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_300530 Label: Pseudohypoaldosteronism type 2E - 'Pseudohypoaldosteronism type 2E' SubClassOf 'part_of' some 'Pseudohypoaldosteronism type 2' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2E' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pseudohypoaldosteronism type 2E' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudohypoaldosteronism type 2E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pseudohypoaldosteronism type 2' Class: http://www.orpha.net/ORDO/Orphanet_309819 Label: Disorder of pterin metabolism - 'Disorder of pterin metabolism' SubClassOf 'group of disorders' + 'Disorder of pterin metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319328 Label: Inherited renal cell cancer-predisposing syndrome - 'Inherited renal cell cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited renal cell cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309816 Label: Disorder of bilirubin metabolism and excretion - 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of disorders' + 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118105 Label: presenilin 2 - 'presenilin 2' SubClassOf 'gene' - 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' - 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'presenilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset autosomal dominant Alzheimer disease' + 'presenilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'presenilin 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120828 Label: crystallin, alpha A - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, alpha A' SubClassOf 'gene' + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, alpha A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, alpha A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, alpha A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' Class: http://www.orpha.net/ORDO/Orphanet_254846 Label: Isolated oxidative phosphorylation complex disorder - 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of disorders' + 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_309813 Label: Disorder of porphyrin and haem metabolism - 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of disorders' + 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300536 Label: DDOST-CDG - 'DDOST-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' - 'DDOST-CDG' SubClassOf 'disease' - 'DDOST-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'DDOST-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' - 'DDOST-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' - 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of protein N-glycosylation' + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with neurological involvement' + 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'DDOST-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'DDOST-CDG' SubClassOf 'disease' + 'DDOST-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'DDOST-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'DDOST-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_309810 Label: Disorder of peroxisomal alpha-, beta- and omega-oxidation - 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of disorders' + 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_291794 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 6 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'gene' - 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis universalis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ocular coloboma' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q36"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyschromatosis universalis' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_121955 Label: FtsJ RNA methyltransferase homolog 1 (E. coli) - 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'gene' + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'FtsJ RNA methyltransferase homolog 1 (E. coli)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120822 Label: cone-rod homeobox - 'cone-rod homeobox' SubClassOf 'gene' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'cone-rod homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'cone-rod homeobox' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'cone-rod homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_85277 Label: X-linked intellectual disability, Cantagrel type - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Cantagrel type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Cantagrel type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cantagrel type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cantagrel type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_398063 Label: Refractory celiac disease - 'Refractory celiac disease' SubClassOf 'disease' - 'Refractory celiac disease' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Refractory celiac disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289869 Label: Disorder of ornithine metabolism - 'Disorder of ornithine metabolism' SubClassOf 'group of disorders' + 'Disorder of ornithine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120832 Label: crystallin, alpha B - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertonic myofibrillar myopathy' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-crystallinopathy' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' - 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'crystallin, alpha B' SubClassOf 'gene' + 'crystallin, alpha B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22.3-q23.1"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, alpha B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile hypertonic myofibrillar myopathy' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-B crystallin-related late-onset distal myopathy' + 'crystallin, alpha B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_217607 Label: Familial dilated cardiomyopathy - 'Familial dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Familial dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85278 Label: Christianson syndrome - 'Christianson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Christianson syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Christianson syndrome' SubClassOf 'malformation syndrome' - 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Christianson syndrome' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'Christianson syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Christianson syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Christianson syndrome' SubClassOf 'malformation syndrome' + 'Christianson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Christianson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Christianson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'Christianson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121963 Label: fucosidase, alpha-L- 1, tissue - 'fucosidase, alpha-L- 1, tissue' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fucosidosis' - 'fucosidase, alpha-L- 1, tissue' SubClassOf 'gene' + 'fucosidase, alpha-L- 1, tissue' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34"^^http://www.w3.org/2001/XMLSchema#string + 'fucosidase, alpha-L- 1, tissue' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fucosidosis' + 'fucosidase, alpha-L- 1, tissue' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85279 Label: Syndromic X-linked intellectual disability due to JARID1C mutation - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'malformation syndrome' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'malformation syndrome' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_289866 Label: Disorder of proline metabolism - 'Disorder of proline metabolism' SubClassOf 'group of disorders' + 'Disorder of proline metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141253 Label: Oblique facial cleft - 'Oblique facial cleft' SubClassOf 'group of disorders' + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Oblique facial cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oblique facial cleft' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oblique facial cleft' SubClassOf 'group of disorders' + 'Oblique facial cleft' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_123688 Label: nibrin - 'nibrin' SubClassOf 'gene' - 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' - 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome' - 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'nibrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nijmegen breakage syndrome' + 'nibrin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q24"^^http://www.w3.org/2001/XMLSchema#string + 'nibrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121965 Label: frataxin - 'frataxin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Friedreich ataxia' - 'frataxin' SubClassOf 'gene' + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q21.11"^^http://www.w3.org/2001/XMLSchema#string + 'frataxin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Friedreich ataxia' Class: http://www.orpha.net/ORDO/Orphanet_254851 Label: Maternally-inherited mitochondrial dystonia - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Maternally-inherited mitochondrial dystonia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2549 Label: Oculoauriculovertebral spectrum with radial defects - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'malformation syndrome' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'malformation syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Oculoauriculovertebral spectrum with radial defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85273 Label: X-linked intellectual disability, Abidi type - 'X-linked intellectual disability, Abidi type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Abidi type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Abidi type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Abidi type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked intellectual disability, Abidi type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Abidi type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Abidi type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Abidi type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_141258 Label: Tessier number 4 facial cleft - 'Tessier number 4 facial cleft' SubClassOf 'morphological anomaly' - 'Tessier number 4 facial cleft' SubClassOf 'part_of' some 'Oblique facial cleft' + 'Tessier number 4 facial cleft' SubClassOf 'morphological anomaly' + 'Tessier number 4 facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oblique facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2542 Label: Isolated anophthalmia - microphthalmia - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'group of disorders' - 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.18"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'group of disorders' + 'Isolated anophthalmia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Isolated anophthalmia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_254854 Label: Pure mitochondrial myopathy - 'Pure mitochondrial myopathy' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Pure mitochondrial myopathy' SubClassOf 'disease' - 'Pure mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'Pure mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' + 'Pure mitochondrial myopathy' SubClassOf 'disease' + 'Pure mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_265490 Label: serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' - 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'gene' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85274 Label: Syndromic X-linked intellectual disability 7 - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'malformation syndrome' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Syndromic X-linked intellectual disability 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Syndromic X-linked intellectual disability 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic X-linked intellectual disability 7' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217604 Label: Dilated cardiomyopathy - 'Dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2543 Label: Microphthalmia - cataract - 'Microphthalmia - cataract' SubClassOf 'malformation syndrome' - 'Microphthalmia - cataract' SubClassOf 'part_of' some 'Non-syndromic developmental defect of the eye' - 'Microphthalmia - cataract' SubClassOf 'part_of' some 'Syndromic cataract' + 'Microphthalmia - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Microphthalmia - cataract' SubClassOf 'malformation syndrome' + 'Microphthalmia - cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_85275 Label: Microphthalmia - ankyloblepharon - intellectual disability - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'malformation syndrome' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_prevalence' some 'Unknown' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'malformation syndrome' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_289863 Label: Atypical glycine encephalopathy - 'Atypical glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Atypical glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' - 'Atypical glycine encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Atypical glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Atypical glycine encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' + 'Atypical glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Atypical glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_85276 Label: X-linked intellectual disability, Armfield type - 'X-linked intellectual disability, Armfield type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Armfield type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Armfield type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Armfield type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Armfield type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked intellectual disability, Armfield type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Armfield type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Armfield type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_289860 Label: Infantile glycine encephalopathy - 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' - 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile glycine encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Infantile glycine encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' + 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Infantile glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398069 Label: Prader-Willi syndrome due to point mutation - 'Prader-Willi syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi syndrome' - 'Prader-Willi syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to point mutation' SubClassOf 'etiological subtype' + 'Prader-Willi syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Prader-Willi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217601 Label: Hypertrophic cardiomyopathy due to intensive athletic training - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_123680 Label: NLR family, apoptosis inhibitory protein - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' - 'NLR family, apoptosis inhibitory protein' SubClassOf 'gene' + 'NLR family, apoptosis inhibitory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 2' + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 1' + 'NLR family, apoptosis inhibitory protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal spinal muscular atrophy type 3' + 'NLR family, apoptosis inhibitory protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319322 Label: Mucinous tubular and spindle cell carcinoma - 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'histopathological subtype' + 'Mucinous tubular and spindle cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Mucinous tubular and spindle cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_265497 Label: trans-2,3-enoyl-CoA reductase - 'trans-2,3-enoyl-CoA reductase' SubClassOf 'gene' - 'trans-2,3-enoyl-CoA reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'trans-2,3-enoyl-CoA reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'trans-2,3-enoyl-CoA reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'trans-2,3-enoyl-CoA reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_322126 Label: Genetic tumor of hematopoietic and lymphoid tissues - 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' + 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_182553 Label: chimerin 1 - 'chimerin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duane retraction syndrome' - 'chimerin 1' SubClassOf 'gene' + 'chimerin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Duane retraction syndrome' + 'chimerin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chimerin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31-q32.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284339 Label: Pontocerebellar hypoplasia type 7 - 'Pontocerebellar hypoplasia type 7' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'malformation syndrome' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 7' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pontocerebellar hypoplasia type 7' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pontocerebellar hypoplasia type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_262887 Label: Partial duplication of the long arm of chromosome 7 - 'Partial duplication of the long arm of chromosome 7' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 7' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398091 Label: Secondary neonatal autoimmune disease - 'Secondary neonatal autoimmune disease' SubClassOf 'group of disorders' + 'Secondary neonatal autoimmune disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_289849 Label: Glutathione synthetase deficiency without 5-oxoprolinuria - 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' - 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'part_of' some 'Glutathione synthetase deficiency' + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_189344 Label: potassium inwardly-rectifying channel, subfamily J, member 10 - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'EAST syndrome' - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'gene' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pendred syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'EAST syndrome' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2508 Label: Micrencephaly - corpus callosum agenesis - abnormal genitalia - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_prevalence' some 'Unknown' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'malformation syndrome' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' - 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ARX-related epileptic encephalopathy' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'malformation syndrome' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_300501 Label: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'disease' - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'disease' + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Benign peripheral nerve sheath tumor' Class: http://www.orpha.net/ORDO/Orphanet_121922 Label: Fraser extracellular matrix complex subunit 1 - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'gene' - 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'Fraser extracellular matrix complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'Fraser extracellular matrix complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Fraser extracellular matrix complex subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_300504 Label: Onychocytic matricoma - 'Onychocytic matricoma' SubClassOf 'part_of' some 'Rare nail tumor' - 'Onychocytic matricoma' SubClassOf 'disease' - 'Onychocytic matricoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Onychocytic matricoma' SubClassOf 'disease' + 'Onychocytic matricoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nail tumor' + 'Onychocytic matricoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254837 Label: Unspecified mitochondrial disorder - 'Unspecified mitochondrial disorder' SubClassOf 'group of disorders' + 'Unspecified mitochondrial disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189348 Label: latent transforming growth factor beta binding protein 2 - 'latent transforming growth factor beta binding protein 2' SubClassOf 'gene' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' + 'latent transforming growth factor beta binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'latent transforming growth factor beta binding protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' + 'latent transforming growth factor beta binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_309803 Label: Rhizomelic chondrodysplasia punctata type 3 - 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' - 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'part_of' some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhizomelic chondrodysplasia punctata' + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_121927 Label: FRAS1 related extracellular matrix protein 2 - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' - 'FRAS1 related extracellular matrix protein 2' SubClassOf 'gene' + 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'FRAS1 related extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fraser syndrome' + 'FRAS1 related extracellular matrix protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_293899 Label: Familial isolated arrhythmogenic ventricular dysplasia, biventricular form - 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'clinical subtype' - 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2511 Label: Microbrachycephaly - ptosis - cleft lip - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'malformation syndrome' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'malformation syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2512 Label: Autosomal recessive primary microcephaly - 'Autosomal recessive primary microcephaly' SubClassOf 'disease' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive primary microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive primary microcephaly' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Autosomal recessive primary microcephaly' SubClassOf 'part_of' some 'Isolated congenital microcephaly' + 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Autosomal recessive primary microcephaly' SubClassOf 'disease' + 'Autosomal recessive primary microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410159) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive primary microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital microcephaly' + 'Autosomal recessive primary microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive primary microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_254843 Label: Exercise intolerance with lactic acidosis - 'Exercise intolerance with lactic acidosis' SubClassOf 'group of disorders' + 'Exercise intolerance with lactic acidosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2510 Label: Micro syndrome - 'Micro syndrome' SubClassOf 'malformation syndrome' - 'Micro syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Micro syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Micro syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Micro syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Micro syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Micro syndrome' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Micro syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Micro syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Micro syndrome' SubClassOf 'malformation syndrome' + 'Micro syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Micro syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with lissencephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2515 Label: Microcephaly - cardiomyopathy - 'Microcephaly - cardiomyopathy' SubClassOf 'malformation syndrome' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cardiomyopathy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf 'malformation syndrome' + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Microcephaly - cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_291751 Label: distal-less homeobox 5 - 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand - split foot - deafness' - 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' - 'distal-less homeobox 5' SubClassOf 'gene' + 'distal-less homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'distal-less homeobox 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand - split foot - deafness' + 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_2516 Label: Microcephaly - cardiac defect - lung malsegmentation - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'malformation syndrome' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'malformation syndrome' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2513 Label: Microcephaly - albinism - digital anomalies - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'malformation syndrome' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Microcephaly - albinism - digital anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - albinism - digital anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - albinism - digital anomalies' SubClassOf 'malformation syndrome' + 'Microcephaly - albinism - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Microcephaly - albinism - digital anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_398097 Label: Neonatal antiphospholipid syndrome - 'Neonatal antiphospholipid syndrome' SubClassOf 'disease' - 'Neonatal antiphospholipid syndrome' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal antiphospholipid syndrome' SubClassOf 'disease' + 'Neonatal antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_289857 Label: Neonatal glycine encephalopathy - 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neonatal glycine encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Neonatal glycine encephalopathy' SubClassOf 'part_of' some 'Glycine encephalopathy' - 'Neonatal glycine encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' + 'Neonatal glycine encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neonatal glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycine encephalopathy' + 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' + 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neonatal glycine encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_141288 Label: Midline cervical cleft - 'Midline cervical cleft' SubClassOf 'part_of' some 'Median facial cleft' - 'Midline cervical cleft' SubClassOf 'morphological anomaly' + 'Midline cervical cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Midline cervical cleft' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_121930 Label: FSHD region gene 1 - 'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' - 'FSHD region gene 1' SubClassOf 'gene' + 'FSHD region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q35"^^http://www.w3.org/2001/XMLSchema#string + 'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy' + 'FSHD region gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2514 Label: Autosomal dominant microcephaly - 'Autosomal dominant microcephaly' SubClassOf 'malformation syndrome' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Autosomal dominant microcephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Isolated congenital microcephaly' - 'Autosomal dominant microcephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant microcephaly' SubClassOf 'malformation syndrome' + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Autosomal dominant microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated congenital microcephaly' + 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_123695 Label: neutrophil cytosolic factor 1 - 'neutrophil cytosolic factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' - 'neutrophil cytosolic factor 1' SubClassOf 'gene' + 'neutrophil cytosolic factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'neutrophil cytosolic factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'neutrophil cytosolic factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_262896 Label: Partial duplication of the long arm of chromosome 8 - 'Partial duplication of the long arm of chromosome 8' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 8' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_319332 Label: Autosomal recessive myogenic arthrogryposis multiplex congenita - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'disease' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284343 Label: Pleuropulmonary blastoma family tumor susceptibility syndrome - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'clinical subtype' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'part_of' some 'Pleuropulmonary blastoma' - 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'clinical subtype' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pleuropulmonary blastoma' + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.007"^^http://www.w3.org/2001/XMLSchema#string) + 'Pleuropulmonary blastoma family tumor susceptibility syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_299148 Label: cholinergic receptor, muscarinic 3 - 'cholinergic receptor, muscarinic 3' SubClassOf 'gene' - 'cholinergic receptor, muscarinic 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Prune belly syndrome' + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, muscarinic 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Prune belly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_31043 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_189330 Label: ALX homeobox 3 - 'ALX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontorhiny' - 'ALX homeobox 3' SubClassOf 'gene' + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Frontorhiny' + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'ALX homeobox 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_226144 Label: CD247 molecule - 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'CD247 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' - 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'CD247 molecule' SubClassOf 'gene' + 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'CD247 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' + 'CD247 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'CD247 molecule' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'CD247 molecule' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q24.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2518 Label: Autosomal recessive chorioretinopathy-microcephaly - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'malformation syndrome' - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'part_of' some 'Nervous system anomaly with eye involvement' - 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'malformation syndrome' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nervous system anomaly with eye involvement' Class: http://www.orpha.net/ORDO/Orphanet_300512 Label: Onychomatricoma - 'Onychomatricoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Onychomatricoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Onychomatricoma' SubClassOf 'part_of' some 'Rare nail tumor' - 'Onychomatricoma' SubClassOf 'disease' + 'Onychomatricoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nail tumor' + 'Onychomatricoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Onychomatricoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Onychomatricoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Onychomatricoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120803 Label: crumbs family member 1, photoreceptor morphogenesis associated - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'gene' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pigmented paravenous retinochoroidal atrophy' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q31-q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'crumbs family member 1, photoreceptor morphogenesis associated' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pigmented paravenous retinochoroidal atrophy' Class: http://www.orpha.net/ORDO/Orphanet_189333 Label: microRNA 96 - 'microRNA 96' SubClassOf 'gene' - 'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'microRNA 96' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'microRNA 96' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q32.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2519 Label: Microcephaly - seizures - intellectual disability - heart disease - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'malformation syndrome' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'malformation syndrome' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_121938 Label: fascin actin-bundling protein 2, retinal - 'fascin actin-bundling protein 2, retinal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'fascin actin-bundling protein 2, retinal' SubClassOf 'gene' + 'fascin actin-bundling protein 2, retinal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fascin actin-bundling protein 2, retinal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'fascin actin-bundling protein 2, retinal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_216873 Label: Atypical pantothenate kinase-associated neurodegeneration - 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Pantothenate kinase-associated neurodegeneration' - 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pantothenate kinase-associated neurodegeneration' + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_300515 Label: Rare nail tumor - 'Rare nail tumor' SubClassOf 'group of disorders' + 'Rare nail tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_189338 Label: SMAD family member 9 - 'SMAD family member 9' SubClassOf 'gene' - 'SMAD family member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' + 'SMAD family member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SMAD family member 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12-q14"^^http://www.w3.org/2001/XMLSchema#string + 'SMAD family member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_254827 Label: Mitochondrial membrane transport disorder - 'Mitochondrial membrane transport disorder' SubClassOf 'group of disorders' + 'Mitochondrial membrane transport disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85295 Label: HSD10 disease, atypical type - 'HSD10 disease, atypical type' SubClassOf 'clinical subtype' - 'HSD10 disease, atypical type' SubClassOf 'part_of' some 'HSD10 disease' - 'HSD10 disease, atypical type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'HSD10 disease, atypical type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'HSD10 disease, atypical type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'HSD10 disease, atypical type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'HSD10 disease, atypical type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HSD10 disease' + 'HSD10 disease, atypical type' SubClassOf 'clinical subtype' + 'HSD10 disease, atypical type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'HSD10 disease, atypical type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_299156 Label: regulatory factor X, 6 - 'regulatory factor X, 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' - 'regulatory factor X, 6' SubClassOf 'gene' + 'regulatory factor X, 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X, 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.31"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X, 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2521 Label: Microcephaly - cleft palate - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Microcephaly - cleft palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - cleft palate' SubClassOf 'malformation syndrome' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cleft palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Microcephaly - cleft palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - cleft palate' SubClassOf 'malformation syndrome' + 'Microcephaly - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_85297 Label: X-linked spinocerebellar ataxia type 3 - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'malformation syndrome' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'malformation syndrome' + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked spinocerebellar ataxia type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked spinocerebellar ataxia type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_289841 Label: Disorder of glutamine metabolism - 'Disorder of glutamine metabolism' SubClassOf 'group of disorders' + 'Disorder of glutamine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2522 Label: Microcephaly - cervical spine fusion anomalies - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'malformation syndrome' - 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'malformation syndrome' + 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_254834 Label: Mitochondrial protein import disorder - 'Mitochondrial protein import disorder' SubClassOf 'group of disorders' + 'Mitochondrial protein import disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398088 Label: Hereditary cryohydrocytosis with normal stomatin - 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'part_of' some 'Hereditary stomatocytosis' - 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'disease' + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary stomatocytosis' + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2523 Label: Microcephaly - brain defect - spasticity - hypernatremia - 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'malformation syndrome' + 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141276 Label: Commissural facial cleft - 'Commissural facial cleft' SubClassOf 'part_of' some 'Lateral facial cleft' - 'Commissural facial cleft' SubClassOf 'morphological anomaly' + 'Commissural facial cleft' SubClassOf 'morphological anomaly' + 'Commissural facial cleft' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lateral facial cleft' Class: http://www.orpha.net/ORDO/Orphanet_2524 Label: Pontocerebellar hypoplasia type 2 - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'part_of' some 'Non-syndromic pontocerebellar hypoplasia' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'part_of' some 'Spinal muscular atrophy associated with central nervous system anomaly' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pontocerebellar hypoplasia type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Pontocerebellar hypoplasia type 2' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinal muscular atrophy associated with central nervous system anomaly' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pontocerebellar hypoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_299152 Label: isocitrate dehydrogenase 1 (NADP+), soluble - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'gene' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' - 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Giant cell glioblastoma' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Maffucci syndrome' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Enchondromatosis' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' + 'isocitrate dehydrogenase 1 (NADP+), soluble' SubClassOf 'Modifying somatic mutation in' some 'Gliosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_289846 Label: Glutathione synthetase deficiency with 5-oxoprolinuria - 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' - 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'part_of' some 'Glutathione synthetase deficiency' + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glutathione synthetase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_121941 Label: follicle stimulating hormone, beta polypeptide - 'follicle stimulating hormone, beta polypeptide' SubClassOf 'gene' - 'follicle stimulating hormone, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated follicle stimulating hormone deficiency' + 'follicle stimulating hormone, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'follicle stimulating hormone, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'follicle stimulating hormone, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated follicle stimulating hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label: Microcephaly - lymphedema - chorioretinopathy - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'part_of' some 'Syndromic lymphedema' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_254830 Label: Mitochondrial substrate carrier disorder - 'Mitochondrial substrate carrier disorder' SubClassOf 'group of disorders' + 'Mitochondrial substrate carrier disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_121943 Label: follicle stimulating hormone receptor - 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarian hyperstimulation syndrome' - 'follicle stimulating hormone receptor' SubClassOf 'gene' + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p21-p16"^^http://www.w3.org/2001/XMLSchema#string + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'follicle stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarian hyperstimulation syndrome' + 'follicle stimulating hormone receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some '46,XX gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_85290 Label: X-linked intellectual disability, Wilson type - 'X-linked intellectual disability, Wilson type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Wilson type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some 'x linked dominant' - 'X-linked intellectual disability, Wilson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Wilson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Wilson type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Wilson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99169 Label: Epiblepharon - 'Epiblepharon' SubClassOf 'part_of' some 'Eyelids malposition disorder' - 'Epiblepharon' SubClassOf 'morphological anomaly' + 'Epiblepharon' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Eyelids malposition disorder' + 'Epiblepharon' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85291 Label: X-linked intellectual disability, Wittwer type - 'X-linked intellectual disability, Wittwer type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Wittwer type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Wittwer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Wittwer type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Wittwer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85292 Label: X-linked spinocerebellar ataxia type 4 - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'disease' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'Rare dementia' - 'X-linked spinocerebellar ataxia type 4' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'X-linked spinocerebellar ataxia type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'disease' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked spinocerebellar ataxia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare dementia' + 'X-linked spinocerebellar ataxia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_319340 Label: Carney complex-trismus-pseudocamptodactyly syndrome - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Heart-hand syndrome' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'disease' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Genetic cardiac tumor' - 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'part_of' some 'Rare cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heart-hand syndrome' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'disease' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare cardiac tumor' + 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_85293 Label: X-linked intellectual disability, Cabezas type - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Cabezas type' SubClassOf 'malformation syndrome' + 'X-linked intellectual disability, Cabezas type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked intellectual disability, Cabezas type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Cabezas type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284332 Label: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'disease' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'disease' + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_85294 Label: X-linked epilepsy - learning disabilities - behavior disorders - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'disease' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'disease' + 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 Class: http://www.orpha.net/ORDO/Orphanet_2572 Label: Spastic ataxia - corneal dystrophy - 'Spastic ataxia - corneal dystrophy' SubClassOf 'disease' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' - 'Spastic ataxia - corneal dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spastic ataxia - corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive spastic ataxia' + 'Spastic ataxia - corneal dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spastic ataxia - corneal dystrophy' SubClassOf 'disease' + 'Spastic ataxia - corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2571 Label: X-linked immunoneurologic disorder - 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked immunoneurologic disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked immunoneurologic disorder' SubClassOf 'disease' - 'X-linked immunoneurologic disorder' SubClassOf 'part_of' some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' - 'X-linked immunoneurologic disorder' SubClassOf 'has_inheritance' some 'x linked dominant' + 'X-linked immunoneurologic disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'X-linked immunoneurologic disorder' SubClassOf 'disease' + 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked immunoneurologic disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'X-linked immunoneurologic disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked immunoneurologic disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' Class: http://www.orpha.net/ORDO/Orphanet_93320 Label: Ulnar hemimelia - 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ulnar hemimelia' SubClassOf 'morphological anomaly' - 'Ulnar hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Ulnar hemimelia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Ulnar hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' + 'Ulnar hemimelia' SubClassOf 'morphological anomaly' + 'Ulnar hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ulnar hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2574 Label: Moynahan syndrome - 'Moynahan syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' - 'Moynahan syndrome' SubClassOf 'malformation syndrome' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Moynahan syndrome' SubClassOf 'malformation syndrome' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93321 Label: Radial hemimelia - 'Radial hemimelia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Radial hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Radial hemimelia' SubClassOf 'morphological anomaly' + 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Radial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Radial hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Radial hemimelia' SubClassOf 'morphological anomaly' + 'Radial hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_217656 Label: Familial isolated arrhythmogenic right ventricular dysplasia - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'disease' - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'part_of' some 'Arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'disease' + 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2573 Label: Moyamoya disease - 'Moyamoya disease' SubClassOf 'disease' - 'Moyamoya disease' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Moyamoya disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Moyamoya disease' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Moyamoya disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Moyamoya disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.92"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'disease' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.086"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.048"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.44"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410037) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.43"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.035"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.74"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Moyamoya disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.33"^^http://www.w3.org/2001/XMLSchema#string) + 'Moyamoya disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2570 Label: Morse-Rawnsley-Sargent syndrome - 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'malformation syndrome' + 'Morse-Rawnsley-Sargent syndrome' SubClassOf 'malformation syndrome' + 'Morse-Rawnsley-Sargent syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_123631 Label: myosin, light chain 2, regulatory, cardiac, slow - 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'gene' - 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital fiber-type disproportion myopathy' + 'myosin, light chain 2, regulatory, cardiac, slow' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120865 Label: cystatin C - 'cystatin C' SubClassOf 'gene' - 'cystatin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' + 'cystatin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'cystatin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystatin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' Class: http://www.orpha.net/ORDO/Orphanet_2579 Label: Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'part_of' some 'Rare hereditary ataxia' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'disease' - 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'disease' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120860 Label: cysteine and glycine-rich protein 3 (cardiac LIM protein) - 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'gene' - 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.1"^^http://www.w3.org/2001/XMLSchema#string + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'cysteine and glycine-rich protein 3 (cardiac LIM protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2576 Label: MULIBREY nanism - 'MULIBREY nanism' SubClassOf 'malformation syndrome' - 'MULIBREY nanism' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'MULIBREY nanism' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'MULIBREY nanism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'MULIBREY nanism' SubClassOf 'has_prevalence' some 'Unknown' - 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'MULIBREY nanism' SubClassOf 'malformation syndrome' + 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' + 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MULIBREY nanism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MULIBREY nanism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2575 Label: Cystic fibrosis - gastritis - megaloblastic anemia - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' Class: http://www.orpha.net/ORDO/Orphanet_2578 Label: MURCS association - 'MURCS association' SubClassOf 'part_of' some 'Mayer-Rokitansky-K�ster-Hauser syndrome' - 'MURCS association' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MURCS association' SubClassOf 'has_inheritance' some 'sporadic' - 'MURCS association' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'MURCS association' SubClassOf 'clinical subtype' - 'MURCS association' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'MURCS association' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'MURCS association' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'MURCS association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mayer-Rokitansky-K�ster-Hauser syndrome' + 'MURCS association' SubClassOf 'clinical subtype' + 'MURCS association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'MURCS association' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'MURCS association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MURCS association' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'MURCS association' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'MURCS association' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_100021 Label: Primary plasmacytoma of the bone - 'Primary plasmacytoma of the bone' SubClassOf 'part_of' some 'Plasmacytoma' - 'Primary plasmacytoma of the bone' SubClassOf 'clinical subtype' + 'Primary plasmacytoma of the bone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasmacytoma' + 'Primary plasmacytoma of the bone' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121904 Label: forkhead box L2 - 'forkhead box L2' SubClassOf 'gene' - 'forkhead box L2' SubClassOf 'Role in the phenotype of' some 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' - 'forkhead box L2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' + 'forkhead box L2' SubClassOf 'Role in the phenotype of' some 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' + 'forkhead box L2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box L2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' + 'forkhead box L2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228410 Label: Polyvalvular heart disease syndrome - 'Polyvalvular heart disease syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Polyvalvular heart disease syndrome' SubClassOf 'malformation syndrome' - 'Polyvalvular heart disease syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Polyvalvular heart disease syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Polyvalvular heart disease syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polyvalvular heart disease syndrome' SubClassOf 'malformation syndrome' + 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' + 'Polyvalvular heart disease syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polyvalvular heart disease syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123628 Label: myosin, heavy chain 9, non-muscle - 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'MYH9-related disease' - 'myosin, heavy chain 9, non-muscle' SubClassOf 'gene' - 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'MYH9-related disease' + 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 9, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 9, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100020 Label: Refractory anemia with excess blasts type 2 - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts type 2' SubClassOf 'part_of' some 'Refractory anemia with excess blasts' - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia with excess blasts type 2' SubClassOf 'clinical subtype' - 'Refractory anemia with excess blasts type 2' SubClassOf 'has_inheritance' some 'sporadic' + 'Refractory anemia with excess blasts type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory anemia with excess blasts' + 'Refractory anemia with excess blasts type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts type 2' SubClassOf 'clinical subtype' + 'Refractory anemia with excess blasts type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_100022 Label: Extramedullary soft tissue plasmacytoma - 'Extramedullary soft tissue plasmacytoma' SubClassOf 'part_of' some 'Plasmacytoma' - 'Extramedullary soft tissue plasmacytoma' SubClassOf 'clinical subtype' + 'Extramedullary soft tissue plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasmacytoma' + 'Extramedullary soft tissue plasmacytoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121900 Label: forkhead box E3 - 'forkhead box E3' SubClassOf 'gene' - 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' - 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital primary aphakia' + 'forkhead box E3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box E3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial ocular anterior segment mesenchymal dysgenesis' + 'forkhead box E3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital primary aphakia' Class: http://www.orpha.net/ORDO/Orphanet_377743 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Papillary or follicular thyroid carcinoma' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Papillary or follicular thyroid carcinoma' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228415 Label: 5q35 microduplication syndrome - '5q35 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - '5q35 microduplication syndrome' SubClassOf 'part_of' some 'Partial trisomy of the long arm of chromosome 5' - '5q35 microduplication syndrome' SubClassOf 'malformation syndrome' - '5q35 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' + '5q35 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + '5q35 microduplication syndrome' SubClassOf 'malformation syndrome' + '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '5q35 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5q35 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial trisomy of the long arm of chromosome 5' + '5q35 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_213630 Label: Malignant peripheral neuroectodermal tumor of the corpus uteri - 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'disease' - 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' + 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf 'disease' + 'Malignant peripheral neuroectodermal tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_120855 Label: colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) - 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'gene' - 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.3"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93316 Label: Spondylometaphyseal dysplasia, Schmidt type - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_285406 Label: zinc finger CCCH-type containing 14 - 'zinc finger CCCH-type containing 14' SubClassOf 'gene' - 'zinc finger CCCH-type containing 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'zinc finger CCCH-type containing 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger CCCH-type containing 14' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger CCCH-type containing 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_228418 Label: Microcephaly - seizures - developmental delay - 'Microcephaly - seizures - developmental delay' SubClassOf 'disease' - 'Microcephaly - seizures - developmental delay' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly - seizures - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly - seizures - developmental delay' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Microcephaly - seizures - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephaly - seizures - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Monogenic disease with epilepsy' + 'Microcephaly - seizures - developmental delay' SubClassOf 'disease' + 'Microcephaly - seizures - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly - seizures - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microcephaly - seizures - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_93315 Label: Spondylometaphyseal dysplasia, 'corner fracture' type - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93317 Label: Spondylometaphyseal dysplasia, Sedaghatian type - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'malformation syndrome' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'malformation syndrome' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100025 Label: Alpha heavy-chain disease - 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Alpha heavy-chain disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Alpha heavy-chain disease' SubClassOf 'clinical subtype' - 'Alpha heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' + 'Alpha heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' + 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alpha heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alpha heavy-chain disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121908 Label: forkhead box O1 - 'forkhead box O1' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' - 'forkhead box O1' SubClassOf 'gene' + 'forkhead box O1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box O1' SubClassOf 'Part of a fusion gene in' some 'Alveolar rhabdomyosarcoma' + 'forkhead box O1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93311 Label: Multiple epiphyseal dysplasia type 5 - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia type 5' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 5' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_100024 Label: Mu heavy-chain disease - 'Mu heavy-chain disease' SubClassOf 'clinical subtype' - 'Mu heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Mu heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' - 'Mu heavy-chain disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mu heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' + 'Mu heavy-chain disease' SubClassOf 'clinical subtype' + 'Mu heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Mu heavy-chain disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262869 Label: Partial trisomy of the long arm of chromosome 5 - 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93314 Label: Spondylometaphyseal dysplasia, Kozlowski type - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100026 Label: Gamma heavy-chain disease - 'Gamma heavy-chain disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gamma heavy-chain disease' SubClassOf 'part_of' some 'Heavy chain disease' - 'Gamma heavy-chain disease' SubClassOf 'clinical subtype' - 'Gamma heavy-chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gamma heavy-chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gamma heavy-chain disease' SubClassOf 'clinical subtype' + 'Gamma heavy-chain disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Gamma heavy-chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Heavy chain disease' Class: http://www.orpha.net/ORDO/Orphanet_2585 Label: Ataxia - pancytopenia - 'Ataxia - pancytopenia' SubClassOf 'malformation syndrome' - 'Ataxia - pancytopenia' SubClassOf 'part_of' some 'Rare genetic medullar disease' - 'Ataxia - pancytopenia' SubClassOf 'part_of' some 'Medullar disease' + 'Ataxia - pancytopenia' SubClassOf 'malformation syndrome' + 'Ataxia - pancytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medullar disease' + 'Ataxia - pancytopenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_2584 Label: Classical mycosis fungoides - 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Classical mycosis fungoides' SubClassOf 'disease' - 'Classical mycosis fungoides' SubClassOf 'has_prevalence' some 'Unknown' - 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some 'sporadic' - 'Classical mycosis fungoides' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Classical mycosis fungoides' SubClassOf 'part_of' some 'Mycosis fungoides and variants' + 'Classical mycosis fungoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Classical mycosis fungoides' SubClassOf 'disease' + 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Classical mycosis fungoides' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Classical mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_2583 Label: Mycetoma - 'Mycetoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Mycetoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Mycetoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mycetoma' SubClassOf 'part_of' some 'Rare mycosis' - 'Mycetoma' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Mycetoma' SubClassOf 'disease' + 'Mycetoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Mycetoma' SubClassOf 'disease' + 'Mycetoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycetoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_265457 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'gene' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.3"^^http://www.w3.org/2001/XMLSchema#string + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_2582 Label: Myalgia-eosinophilia syndrome associated with tryptophan - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_inheritance' some 'sporadic' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'part_of' some 'Rare systemic disease' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'malformation syndrome' - 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'malformation syndrome' + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_52688 Label: Myelodysplastic syndromes - 'Myelodysplastic syndromes' SubClassOf 'group of disorders' - 'Myelodysplastic syndromes' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myelodysplastic syndromes' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410173) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.51"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "7.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf 'group of disorders' + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "6.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Myelodysplastic syndromes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "5.02"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_140162 Label: Inherited cancer-predisposing syndrome - 'Inherited cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2580 Label: Shoulder and girdle defects - familial intellectual disability - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'malformation syndrome' - 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120873 Label: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 - 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataracts - facial dysmorphism - neuropathy' - 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'gene' + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q23"^^http://www.w3.org/2001/XMLSchema#string + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataracts - facial dysmorphism - neuropathy' + 'CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291742 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'gene' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209477 Label: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) - 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' - 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'gene' + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital pulmonary alveolar proteinosis' + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp22.32"^^http://www.w3.org/2001/XMLSchema#string + 'colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Yp11.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123641 Label: myosin XVA - 'myosin XVA' SubClassOf 'gene' - 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin XVA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin XVA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120876 Label: cystathionine gamma-lyase - 'cystathionine gamma-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystathioninuria' - 'cystathionine gamma-lyase' SubClassOf 'gene' + 'cystathionine gamma-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystathionine gamma-lyase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p31.1"^^http://www.w3.org/2001/XMLSchema#string + 'cystathionine gamma-lyase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystathioninuria' Class: http://www.orpha.net/ORDO/Orphanet_123648 Label: myosin VI - 'myosin VI' SubClassOf 'gene' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' + 'myosin VI' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2589 Label: Myoclonus - cerebellar ataxia - deafness - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'malformation syndrome' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'malformation syndrome' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2588 Label: Myhre syndrome - 'Myhre syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Myhre syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Myhre syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Myhre syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Myhre syndrome' SubClassOf 'malformation syndrome' - 'Myhre syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Myhre syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Myhre syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Myhre syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Myhre syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Myhre syndrome' SubClassOf 'malformation syndrome' + 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2587 Label: Myeloperoxidase deficiency - 'Myeloperoxidase deficiency' SubClassOf 'disease' - 'Myeloperoxidase deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Myeloperoxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' + 'Myeloperoxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123645 Label: myosin VA (heavy chain 12, myoxin) - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'gene' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroectodermal melanolysosomal disease' - 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 1' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 3' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neuroectodermal melanolysosomal disease' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Griscelli disease type 1' + 'myosin VA (heavy chain 12, myoxin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100034 Label: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'clinical subtype' - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100033 Label: Hypomaturation amelogenesis imperfecta - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomaturation amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypomaturation amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypomaturation amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_100032 Label: Hypocalcified amelogenesis imperfecta - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'clinical subtype' - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypocalcified amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypocalcified amelogenesis imperfecta' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_209470 Label: peripherin - 'peripherin' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' - 'peripherin' SubClassOf 'gene' + 'peripherin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'peripherin' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'peripherin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100031 Label: Hypoplastic amelogenesis imperfecta - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'part_of' some 'Amelogenesis imperfecta' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Hypoplastic amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypoplastic amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelogenesis imperfecta' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'clinical subtype' + 'Hypoplastic amelogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 Class: http://www.orpha.net/ORDO/Orphanet_120867 Label: cystatin B (stefin B) - 'cystatin B (stefin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'cystatin B (stefin B)' SubClassOf 'gene' + 'cystatin B (stefin B)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'cystatin B (stefin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystatin B (stefin B)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "21q22.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_121913 Label: forkhead box P3 - 'forkhead box P3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' - 'forkhead box P3' SubClassOf 'gene' + 'forkhead box P3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' + 'forkhead box P3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string + 'forkhead box P3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228423 Label: Monocytopenia with susceptibility to infections - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some 'sporadic' - 'Monocytopenia with susceptibility to infections' SubClassOf 'disease' - 'Monocytopenia with susceptibility to infections' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic susceptibility to infections due to particular pathogens' + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Monocytopenia with susceptibility to infections' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monocytopenia with susceptibility to infections' SubClassOf 'disease' + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Monocytopenia with susceptibility to infections' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_213620 Label: Sarcoma of the corpus uteri - 'Sarcoma of the corpus uteri' SubClassOf 'group of disorders' + 'Sarcoma of the corpus uteri' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_101685 Label: Rare intellectual disability without developmental anomaly - 'Rare intellectual disability without developmental anomaly' SubClassOf 'part_of' some 'Rare genetic intellectual disability' - 'Rare intellectual disability without developmental anomaly' SubClassOf 'part_of' some 'Rare intellectual disability' - 'Rare intellectual disability without developmental anomaly' SubClassOf 'disease' + 'Rare intellectual disability without developmental anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability' + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Rare intellectual disability without developmental anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability' + 'Rare intellectual disability without developmental anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rare intellectual disability without developmental anomaly' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209474 Label: EPH receptor A2 - 'EPH receptor A2' SubClassOf 'gene' - 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' + 'EPH receptor A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'EPH receptor A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'EPH receptor A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Posterior polar cataract' Class: http://www.orpha.net/ORDO/Orphanet_93308 Label: Multiple epiphyseal dysplasia type 1 - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Multiple epiphyseal dysplasia type 1' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Multiple epiphyseal dysplasia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228426 Label: Syndromic multisystem autoimmune disease due to Itch deficiency - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immunodeficiency syndrome with autoimmunity' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic respiratory disease' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93307 Label: Multiple epiphyseal dysplasia type 4 - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'part_of' some 'Sulfation-related bone disorder' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia type 4' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Multiple epiphyseal dysplasia type 4' SubClassOf 'disease' + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple epiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_262878 Label: Partial duplication of the long arm of chromosome 6 - 'Partial duplication of the long arm of chromosome 6' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 6' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228429 Label: Generalized congenital lipodystrophy with myopathy - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic lipodystrophy' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Generalized congenital lipodystrophy with myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93304 Label: Autosomal dominant brachyolmia - 'Autosomal dominant brachyolmia' SubClassOf 'malformation syndrome' - 'Autosomal dominant brachyolmia' SubClassOf 'part_of' some 'Brachyolmia' - 'Autosomal dominant brachyolmia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant brachyolmia' SubClassOf 'part_of' some 'TRPV4-related bone disorder' + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Autosomal dominant brachyolmia' SubClassOf 'malformation syndrome' + 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Autosomal dominant brachyolmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93303 Label: Brachyolmia type 1, Toledo type - 'Brachyolmia type 1, Toledo type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia type 1, Toledo type' SubClassOf 'part_of' some 'Brachyolmia' - 'Brachyolmia type 1, Toledo type' SubClassOf 'malformation syndrome' - 'Brachyolmia type 1, Toledo type' SubClassOf 'part_of' some 'Sulfation-related bone disorder' + 'Brachyolmia type 1, Toledo type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia type 1, Toledo type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sulfation-related bone disorder' + 'Brachyolmia type 1, Toledo type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brachyolmia type 1, Toledo type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93302 Label: Brachyolmia, Maroteaux type - 'Brachyolmia, Maroteaux type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia, Maroteaux type' SubClassOf 'malformation syndrome' - 'Brachyolmia, Maroteaux type' SubClassOf 'part_of' some 'Brachyolmia' + 'Brachyolmia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia, Maroteaux type' SubClassOf 'malformation syndrome' + 'Brachyolmia, Maroteaux type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93301 Label: Brachyolmia type 1, Hobaek type - 'Brachyolmia type 1, Hobaek type' SubClassOf 'malformation syndrome' - 'Brachyolmia type 1, Hobaek type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brachyolmia type 1, Hobaek type' SubClassOf 'part_of' some 'Brachyolmia' + 'Brachyolmia type 1, Hobaek type' SubClassOf 'malformation syndrome' + 'Brachyolmia type 1, Hobaek type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Brachyolmia' + 'Brachyolmia type 1, Hobaek type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_213625 Label: Leiomyosarcoma of the corpus uteri - 'Leiomyosarcoma of the corpus uteri' SubClassOf 'disease' - 'Leiomyosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' + 'Leiomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Leiomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_100035 Label: Solitary necrotic tumor of the liver - 'Solitary necrotic tumor of the liver' SubClassOf 'part_of' some 'Inflammatory pseudotumor of the liver' - 'Solitary necrotic tumor of the liver' SubClassOf 'clinical subtype' + 'Solitary necrotic tumor of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inflammatory pseudotumor of the liver' + 'Solitary necrotic tumor of the liver' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_262851 Label: Partial duplication of the long arm of chromosome 3 - 'Partial duplication of the long arm of chromosome 3' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 3' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217632 Label: Restrictive cardiomyopathy - 'Restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_217635 Label: Familial restrictive cardiomyopathy - 'Familial restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Familial restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2552 Label: Microsporidiosis - 'Microsporidiosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Microsporidiosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Microsporidiosis' SubClassOf 'disease' - 'Microsporidiosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Microsporidiosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Microsporidiosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Microsporidiosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Microsporidiosis' SubClassOf 'disease' + 'Microsporidiosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2551 Label: Microspherophakia - metaphyseal dysplasia - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'malformation syndrome' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'part_of' some 'Lens size anomaly' - 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microspherophakia - metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microspherophakia - metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lens size anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2554 Label: Ear-patella-short stature syndrome - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ear-patella-short stature syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ear-patella-short stature syndrome' SubClassOf 'malformation syndrome' - 'Ear-patella-short stature syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Ear-patella-short stature syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ear-patella-short stature syndrome' SubClassOf 'malformation syndrome' + 'Ear-patella-short stature syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ear-patella-short stature syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ear-patella-short stature syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123659 Label: myocilin, trabecular meshwork inducible glucocorticoid response - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile glaucoma' - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'gene' + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile glaucoma' + 'myocilin, trabecular meshwork inducible glucocorticoid response' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_2556 Label: Microphthalmia with linear skin defects syndrome - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'malformation syndrome' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Microphthalmia with linear skin defects syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'malformation syndrome' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia with linear skin defects syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microphthalmia with linear skin defects syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_217638 Label: Lysosomal disease with restrictive cardiomyopathy - 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123653 Label: myosin VIIA - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin VIIA' SubClassOf 'gene' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.5"^^http://www.w3.org/2001/XMLSchema#string + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 1' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin VIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410297 Class: http://www.orpha.net/ORDO/Orphanet_2558 Label: Mikati-Najjar-Sahli syndrome - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'malformation syndrome' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'malformation syndrome' + 'Mikati-Najjar-Sahli syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypergonadotropic hypogonadism' + 'Mikati-Najjar-Sahli syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2557 Label: Mietens syndrome - 'Mietens syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Mietens syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mietens syndrome' SubClassOf 'malformation syndrome' - 'Mietens syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Mietens syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mietens syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Mietens syndrome' SubClassOf 'malformation syndrome' + 'Mietens syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Mietens syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Mietens syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120841 Label: crystallin, beta B2 - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' - 'crystallin, beta B2' SubClassOf 'gene' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, beta B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total congenital cataract' + 'crystallin, beta B2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, beta B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120836 Label: crystallin, beta A1 - 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' - 'crystallin, beta A1' SubClassOf 'gene' - 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract with Y-shaped suture opacities' + 'crystallin, beta A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2-q12"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' Class: http://www.orpha.net/ORDO/Orphanet_311424 Label: RAB33B, member RAS oncogene family - 'RAB33B, member RAS oncogene family' SubClassOf 'gene' - 'RAB33B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' + 'RAB33B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28"^^http://www.w3.org/2001/XMLSchema#string + 'RAB33B, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB33B, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-McCort dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_308712 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'part_of' some 'Glycogen storage disease due to glycogen branching enzyme deficiency' - 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glycogen storage disease due to glycogen branching enzyme deficiency' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_331934 Label: wingless-type MMTV integration site family, member 1 - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'gene' - 'wingless-type MMTV integration site family, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' + 'wingless-type MMTV integration site family, member 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic juvenile osteoporosis' + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteogenesis imperfecta type 3' + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'wingless-type MMTV integration site family, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Osteogenesis imperfecta type 4' Class: http://www.orpha.net/ORDO/Orphanet_120839 Label: crystallin, beta A4 - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia - cataract' - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, beta A4' SubClassOf 'gene' + 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, beta A4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta A4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta A4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100001 Label: Sclerosing perineurioma - 'Sclerosing perineurioma' SubClassOf 'part_of' some 'Extraneural perineurioma' - 'Sclerosing perineurioma' SubClassOf 'clinical subtype' + 'Sclerosing perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extraneural perineurioma' + 'Sclerosing perineurioma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100000 Label: Reticular perineurioma - 'Reticular perineurioma' SubClassOf 'clinical subtype' - 'Reticular perineurioma' SubClassOf 'part_of' some 'Extraneural perineurioma' + 'Reticular perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Extraneural perineurioma' + 'Reticular perineurioma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100003 Label: Intraneural perineurioma - 'Intraneural perineurioma' SubClassOf 'disease' - 'Intraneural perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Intraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' + 'Intraneural perineurioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100002 Label: Extraneural perineurioma - 'Extraneural perineurioma' SubClassOf 'disease' - 'Extraneural perineurioma' SubClassOf 'part_of' some 'Perineurioma' + 'Extraneural perineurioma' SubClassOf 'disease' + 'Extraneural perineurioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Perineurioma' Class: http://www.orpha.net/ORDO/Orphanet_242335 Label: solute carrier organic anion transporter family, member 5A1 - 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' - 'solute carrier organic anion transporter family, member 5A1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_220295 Label: Xeroderma pigmentosum-Cockayne syndrome complex - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic photodermatosis' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare photodermatosis' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Genetic progeroid syndrome' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Premature aging' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Progeroid syndrome' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Premature aging' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic progeroid syndrome' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_100006 Label: Hereditary cerebral hemorrhage with amyloidosis, Dutch type - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'clinical subtype' - 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_242331 Label: sulfatase 1 - 'sulfatase 1' SubClassOf 'gene' - 'sulfatase 1' SubClassOf 'Role in the phenotype of' some 'Mesomelia-synostoses syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100008 Label: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'part_of' some 'Hereditary cerebral hemorrhage with amyloidosis' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'clinical subtype' + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary cerebral hemorrhage with amyloidosis' + 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2563 Label: MOMO syndrome - 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'MOMO syndrome' SubClassOf 'malformation syndrome' - 'MOMO syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MOMO syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MOMO syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'MOMO syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'MOMO syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'MOMO syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'MOMO syndrome' SubClassOf 'malformation syndrome' + 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'MOMO syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_262860 Label: Partial duplication of the long arm of chromosome 4 - 'Partial duplication of the long arm of chromosome 4' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 4' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_156077 Label: NK2 homeobox 1 - 'NK2 homeobox 1' SubClassOf 'gene' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain-lung-thyroid syndrome' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial chorea' - 'NK2 homeobox 1' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' - 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brain-lung-thyroid syndrome' + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial chorea' + 'NK2 homeobox 1' SubClassOf 'Major susceptibility factor in' some 'Papillary or follicular thyroid carcinoma' + 'NK2 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'NK2 homeobox 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NK2 homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_217622 Label: Sensorineural deafness with dilated cardiomyopathy - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'disease' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'disease' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2561 Label: Ackerman syndrome - 'Ackerman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ackerman syndrome' SubClassOf 'malformation syndrome' - 'Ackerman syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ackerman syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Ackerman syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Ackerman syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ackerman syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ackerman syndrome' SubClassOf 'malformation syndrome' + 'Ackerman syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Ackerman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Ackerman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_2560 Label: M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'malformation syndrome' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some 'sporadic' - 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'malformation syndrome' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'M�bius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123669 Label: N-acetylgalactosaminidase, alpha- - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'gene' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 3' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 2' - 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 1' + 'N-acetylgalactosaminidase, alpha-' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'N-acetylgalactosaminidase, alpha-' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 3' + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 2' + 'N-acetylgalactosaminidase, alpha-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-N-acetylgalactosaminidase deficiency type 1' Class: http://www.orpha.net/ORDO/Orphanet_2566 Label: Susceptibility to chronic infection by Epstein-Barr virus - 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'part_of' some 'Rare viral disease' + 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Susceptibility to chronic infection by Epstein-Barr virus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_2565 Label: Mononen-Karnes-Senac syndrome - 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' + 'Mononen-Karnes-Senac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mononen-Karnes-Senac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' Class: http://www.orpha.net/ORDO/Orphanet_331931 Label: heterogeneous nuclear ribonucleoprotein A1 - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'gene' - 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.1"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2564 Label: Tetramelic monodactyly - 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' - 'Tetramelic monodactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Tetramelic monodactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Tetramelic monodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_120852 Label: crystallin, gamma D - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, gamma D' SubClassOf 'gene' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coralliform cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' - 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coralliform cataract' + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, gamma D' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, gamma D' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma D' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerulean cataract' Class: http://www.orpha.net/ORDO/Orphanet_123664 Label: myotilin - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1A' - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myotilinopathy' - 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spheroid body myopathy' - 'myotilin' SubClassOf 'gene' + 'myotilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1A' + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal myotilinopathy' + 'myotilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spheroid body myopathy' + 'myotilin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_217629 Label: Non-familial dilated cardiomyopathy - 'Non-familial dilated cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial dilated cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_377752 Label: ATP synthase mitochondrial F1 complex assembly factor 1 - 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'Candidate gene tested in' some 'Isolated ATP synthase deficiency' - 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'gene' + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'Candidate gene tested in' some 'Isolated ATP synthase deficiency' + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p33-p32.3"^^http://www.w3.org/2001/XMLSchema#string + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228402 Label: 2q23.1 microdeletion syndrome - '2q23.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2' - '2q23.1 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '2q23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '2q23.1 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '2q23.1 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '2q23.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q23.1 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 2' Class: http://www.orpha.net/ORDO/Orphanet_331927 Label: heterogeneous nuclear ribonucleoprotein A2/B1 - 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' - 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'gene' + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15"^^http://www.w3.org/2001/XMLSchema#string + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'heterogeneous nuclear ribonucleoprotein A2/B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_120846 Label: crystallin, beta B3 - 'crystallin, beta B3' SubClassOf 'gene' - 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' - 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' + 'crystallin, beta B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, beta B3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' Class: http://www.orpha.net/ORDO/Orphanet_100012 Label: Lissencephaly with cerebellar hypoplasia type B - 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120849 Label: crystallin, gamma C - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' - 'crystallin, gamma C' SubClassOf 'gene' - 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coppock-like cataract' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract-microcornea syndrome' + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zonular cataract' + 'crystallin, gamma C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33.3"^^http://www.w3.org/2001/XMLSchema#string + 'crystallin, gamma C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulverulent cataract' + 'crystallin, gamma C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_100011 Label: Lissencephaly with cerebellar hypoplasia type A - 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100016 Label: Lissencephaly with cerebellar hypoplasia type F - 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100015 Label: Lissencephaly with cerebellar hypoplasia type E - 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' - 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_100014 Label: Lissencephaly with cerebellar hypoplasia type D - 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'malformation syndrome' - 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_319308 Label: Translocation renal cell carcinoma - 'Translocation renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' - 'Translocation renal cell carcinoma' SubClassOf 'histopathological subtype' + 'Translocation renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Translocation renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_100013 Label: Lissencephaly with cerebellar hypoplasia type C - 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'malformation syndrome' - 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'part_of' some 'Lissencephaly with cerebellar hypoplasia' + 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'malformation syndrome' + 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly with cerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_156071 Label: Keratoconus - 'Keratoconus' SubClassOf 'group of disorders' + 'Keratoconus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100019 Label: Refractory anemia with excess blasts type 1 - 'Refractory anemia with excess blasts type 1' SubClassOf 'part_of' some 'Refractory anemia with excess blasts' - 'Refractory anemia with excess blasts type 1' SubClassOf 'clinical subtype' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Refractory anemia with excess blasts type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Refractory anemia with excess blasts type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Refractory anemia with excess blasts' + 'Refractory anemia with excess blasts type 1' SubClassOf 'clinical subtype' + 'Refractory anemia with excess blasts type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_319303 Label: Chromophobe renal cell carcinoma - 'Chromophobe renal cell carcinoma' SubClassOf 'histopathological subtype' - 'Chromophobe renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Chromophobe renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial renal cell carcinoma' + 'Chromophobe renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_33108 Label: Lethal multiple pterygium syndrome - 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lethal multiple pterygium syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic dermis disorder' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple pterygium syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Lethal multiple pterygium syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lethal multiple pterygium syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple pterygium syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic dermis disorder' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_329191 Label: Tall stature - scoliosis - macrodactyly of the great toes - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'disease' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'disease' + 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93365 Label: CINCA syndrome with NLRP3 mutations - 'CINCA syndrome with NLRP3 mutations' SubClassOf 'clinical subtype' - 'CINCA syndrome with NLRP3 mutations' SubClassOf 'part_of' some 'CINCA syndrome' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'clinical subtype' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'CINCA syndrome with NLRP3 mutations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'CINCA syndrome' + 'CINCA syndrome with NLRP3 mutations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_401815 Label: Autosomal recessive spastic paraplegia type 66 - 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 66' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401810 Label: Autosomal recessive spastic paraplegia type 64 - 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_403958 Label: prickle homolog 2 (Drosophila) - 'prickle homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 5' - 'prickle homolog 2 (Drosophila)' SubClassOf 'gene' + 'prickle homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 5' + 'prickle homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p14.3"^^http://www.w3.org/2001/XMLSchema#string + 'prickle homolog 2 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93360 Label: Spondyloepimetaphyseal dysplasia with multiple dislocations - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329195 Label: Developmental delay with autism spectrum disorder and gait instability - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'part_of' some 'Rare disease with autism' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'disease' - 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with autism' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'disease' + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_181437 Label: Rare syndromic dyslipidemia - 'Rare syndromic dyslipidemia' SubClassOf 'group of disorders' + 'Rare syndromic dyslipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93359 Label: Spondyloepimetaphyseal dysplasia with joint laxity - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation-related bone disorder' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'part_of' some 'Disorder of O-xylosylglycan synthesis' - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation-related bone disorder' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-xylosylglycan synthesis' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306519 Label: Familial primary hypomagnesemia with hypocalcuria - 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315424 Label: lin-28 homolog B (C. elegans) - 'lin-28 homolog B (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' - 'lin-28 homolog B (C. elegans)' SubClassOf 'gene' + 'lin-28 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lin-28 homolog B (C. elegans)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'lin-28 homolog B (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_306516 Label: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'group of disorders' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_315421 Label: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 - 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'gene' - 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1' SubClassOf 'Major susceptibility factor in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_93356 Label: Spondyloepimetaphyseal dysplasia, Missouri type - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_33110 Label: Autosomal agammaglobulinemia - 'Autosomal agammaglobulinemia' SubClassOf 'part_of' some 'Isolated agammaglobulinemia' - 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal agammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal agammaglobulinemia' SubClassOf 'clinical subtype' + 'Autosomal agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal agammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated agammaglobulinemia' + 'Autosomal agammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Autosomal agammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal agammaglobulinemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_181441 Label: Rare disorder with hypergonadotropic hypogonadism - 'Rare disorder with hypergonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare disorder with hypergonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93357 Label: SPONASTRIME dysplasia - 'SPONASTRIME dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'SPONASTRIME dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'SPONASTRIME dysplasia' SubClassOf 'disease' + 'SPONASTRIME dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'SPONASTRIME dysplasia' SubClassOf 'disease' + 'SPONASTRIME dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_93358 Label: Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_354117 Label: SH3 and cysteine rich domain 3 - 'SH3 and cysteine rich domain 3' SubClassOf 'gene' - 'SH3 and cysteine rich domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Native American myopathy' + 'SH3 and cysteine rich domain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SH3 and cysteine rich domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Native American myopathy' + 'SH3 and cysteine rich domain 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_242313 Label: 4-hydroxy-2-oxoglutarate aldolase 1 - '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'gene' - '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 3' + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.1"^^http://www.w3.org/2001/XMLSchema#string + '4-hydroxy-2-oxoglutarate aldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary hyperoxaluria type 3' Class: http://www.orpha.net/ORDO/Orphanet_306511 Label: Autosomal recessive spastic paraplegia type 48 - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'part_of' some 'Pure or complex autosomal recessive spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pure or complex autosomal recessive spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_33111 Label: Granulomatous slack skin - 'Granulomatous slack skin' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Granulomatous slack skin' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Granulomatous slack skin' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Granulomatous slack skin' SubClassOf 'has_inheritance' some 'sporadic' - 'Granulomatous slack skin' SubClassOf 'disease' - 'Granulomatous slack skin' SubClassOf 'part_of' some 'Mycosis fungoides and variants' + 'Granulomatous slack skin' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Granulomatous slack skin' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Granulomatous slack skin' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Granulomatous slack skin' SubClassOf 'disease' + 'Granulomatous slack skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Granulomatous slack skin' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' Class: http://www.orpha.net/ORDO/Orphanet_90103 Label: Charcot-Marie-Tooth disease - deafness - intellectual disability - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'malformation syndrome' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'malformation syndrome' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_160253 Label: MDS1 and EVI1 complex locus - 'MDS1 and EVI1 complex locus' SubClassOf 'gene' - 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Myelodysplastic syndromes' + 'MDS1 and EVI1 complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' + 'MDS1 and EVI1 complex locus' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.2"^^http://www.w3.org/2001/XMLSchema#string + 'MDS1 and EVI1 complex locus' SubClassOf 'Part of a fusion gene in' some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_286552 Label: acylglycerol kinase - 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' - 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' - 'acylglycerol kinase' SubClassOf 'gene' + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' + 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'acylglycerol kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q34"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160236 Label: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 2' - 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'gene' + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_123600 Label: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 1' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'gene' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Modifying somatic mutation in' some 'Neuroblastoma' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Candidate gene tested in' some 'Unilateral retinoblastoma' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Feingold syndrome type 1' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123603 Label: myogenic factor 6 (herculin) - 'myogenic factor 6 (herculin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' - 'myogenic factor 6 (herculin)' SubClassOf 'gene' + 'myogenic factor 6 (herculin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant centronuclear myopathy' + 'myogenic factor 6 (herculin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q21"^^http://www.w3.org/2001/XMLSchema#string + 'myogenic factor 6 (herculin)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_291703 Label: proline-rich transmembrane protein 2 - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia' - 'proline-rich transmembrane protein 2' SubClassOf 'gene' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' - 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial or sporadic hemiplegic migraine' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' + 'proline-rich transmembrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign familial infantile epilepsy' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_286557 Label: histone cell cycle regulator - 'histone cell cycle regulator' SubClassOf 'gene' - 'histone cell cycle regulator' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'histone cell cycle regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'histone cell cycle regulator' SubClassOf 'Role in the phenotype of' some '22q11.2 deletion syndrome' + 'histone cell cycle regulator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_84142 Label: Isaac syndrome - 'Isaac syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Isaac syndrome' SubClassOf 'disease' - 'Isaac syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isaac syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Isaac syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' + 'Isaac syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Isaac syndrome' SubClassOf 'disease' + 'Isaac syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_99101 Label: Ectasia of the right atrial appendage - 'Ectasia of the right atrial appendage' SubClassOf 'part_of' some 'Atrial appendage anomaly' - 'Ectasia of the right atrial appendage' SubClassOf 'morphological anomaly' + 'Ectasia of the right atrial appendage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' + 'Ectasia of the right atrial appendage' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99100 Label: Juxtaposition of the atrial appendages - 'Juxtaposition of the atrial appendages' SubClassOf 'morphological anomaly' - 'Juxtaposition of the atrial appendages' SubClassOf 'part_of' some 'Atrial appendage anomaly' + 'Juxtaposition of the atrial appendages' SubClassOf 'morphological anomaly' + 'Juxtaposition of the atrial appendages' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401805 Label: Autosomal recessive spastic paraplegia type 63 - 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'disease' - 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 63' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_181422 Label: Rare hyperlipidemia - 'Rare hyperlipidemia' SubClassOf 'group of disorders' + 'Rare hyperlipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99103 Label: Atrial septal defect, ostium secundum type - 'Atrial septal defect, ostium secundum type' SubClassOf 'part_of' some 'Interauricular communication' - 'Atrial septal defect, ostium secundum type' SubClassOf 'clinical subtype' + 'Atrial septal defect, ostium secundum type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, ostium secundum type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93352 Label: Spondyloepimetaphyseal dysplasia, Shohat type - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_99102 Label: Ectasia of the left appendage - 'Ectasia of the left appendage' SubClassOf 'morphological anomaly' - 'Ectasia of the left appendage' SubClassOf 'part_of' some 'Atrial appendage anomaly' + 'Ectasia of the left appendage' SubClassOf 'morphological anomaly' + 'Ectasia of the left appendage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial appendage anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93351 Label: Spondyloepimetaphyseal dysplasia, Irapa type - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_prevalence' some 'Unknown' + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_268103 Label: zinc finger and BTB domain containing 24 - 'zinc finger and BTB domain containing 24' SubClassOf 'gene' - 'zinc finger and BTB domain containing 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' + 'zinc finger and BTB domain containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger and BTB domain containing 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'zinc finger and BTB domain containing 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'ICF syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99105 Label: Atrial septal defect, sinus venosus type - 'Atrial septal defect, sinus venosus type' SubClassOf 'part_of' some 'Interauricular communication' - 'Atrial septal defect, sinus venosus type' SubClassOf 'clinical subtype' + 'Atrial septal defect, sinus venosus type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, sinus venosus type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_401800 Label: Autosomal recessive spastic paraplegia type 60 - 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 60' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181425 Label: Major hypertriglyceridemia - 'Major hypertriglyceridemia' SubClassOf 'group of disorders' + 'Major hypertriglyceridemia' SubClassOf 'group of disorders' + 'Major hypertriglyceridemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Major hypertriglyceridemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_262842 Label: Partial duplication of the long arm of chromosome 2 - 'Partial duplication of the long arm of chromosome 2' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 2' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_99104 Label: Atrial septal defect, coronary sinus type - 'Atrial septal defect, coronary sinus type' SubClassOf 'clinical subtype' - 'Atrial septal defect, coronary sinus type' SubClassOf 'part_of' some 'Interauricular communication' + 'Atrial septal defect, coronary sinus type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, coronary sinus type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119592 Label: aldehyde dehydrogenase 5 family, member A1 - 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'gene' - 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some '4-hydroxybutyric aciduria' + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22"^^http://www.w3.org/2001/XMLSchema#string + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 5 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some '4-hydroxybutyric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_99107 Label: Atrial septal aneurysm - 'Atrial septal aneurysm' SubClassOf 'part_of' some 'Atrial defect and interauricular communication' - 'Atrial septal aneurysm' SubClassOf 'morphological anomaly' + 'Atrial septal aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Atrial defect and interauricular communication' + 'Atrial septal aneurysm' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99106 Label: Atrial septal defect, ostium primum type - 'Atrial septal defect, ostium primum type' SubClassOf 'clinical subtype' - 'Atrial septal defect, ostium primum type' SubClassOf 'part_of' some 'Interauricular communication' + 'Atrial septal defect, ostium primum type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Interauricular communication' + 'Atrial septal defect, ostium primum type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_181428 Label: Hyperalphalipoproteinemia - 'Hyperalphalipoproteinemia' SubClassOf 'group of disorders' + 'Hyperalphalipoproteinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119596 Label: aldehyde dehydrogenase 7 family, member A1 - 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxine-dependent epilepsy' - 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'gene' + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxine-dependent epilepsy' + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 7 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93349 Label: X-linked spondyloepimetaphyseal dysplasia - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'disease' + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'disease' + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_315413 Label: ATP-binding cassette, sub-family D (ALD), member 4 - 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblJ' - 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf 'gene' + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24"^^http://www.w3.org/2001/XMLSchema#string + 'ATP-binding cassette, sub-family D (ALD), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Methylmalonic acidemia with homocystinuria, type cblJ' Class: http://www.orpha.net/ORDO/Orphanet_306507 Label: LAMB2-related infantile-onset nephrotic syndrome - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome' - 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital and infantile nephrotic syndrome' + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_119599 Label: aldolase A, fructose-bisphosphate - 'aldolase A, fructose-bisphosphate' SubClassOf 'gene' - 'aldolase A, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to aldolase A deficiency' + 'aldolase A, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldolase A, fructose-bisphosphate' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'aldolase A, fructose-bisphosphate' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to aldolase A deficiency' Class: http://www.orpha.net/ORDO/Orphanet_262833 Label: Partial duplication of the long arm of chromosome 1 - 'Partial duplication of the long arm of chromosome 1' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93346 Label: Spondyloepimetaphyseal dysplasia congenita, Strudwick type - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_242325 Label: dispatched homolog 1 (Drosophila) - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'gene' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' - 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septopreoptic holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semilobar holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Midline interhemispheric variant of holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microform holoprosencephaly' + 'dispatched homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.12"^^http://www.w3.org/2001/XMLSchema#string + 'dispatched homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lobar holoprosencephaly' Class: http://www.orpha.net/ORDO/Orphanet_93347 Label: Anauxetic dysplasia - 'Anauxetic dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Anauxetic dysplasia' SubClassOf 'disease' - 'Anauxetic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Anauxetic dysplasia' SubClassOf 'disease' + 'Anauxetic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anauxetic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_181431 Label: Rare hypolipidemia - 'Rare hypolipidemia' SubClassOf 'group of disorders' + 'Rare hypolipidemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_286549 Label: calcium channel, voltage-dependent, T type, alpha 1H subunit - 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'gene' - 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'calcium channel, voltage-dependent, T type, alpha 1H subunit' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_160240 Label: espin - 'espin' SubClassOf 'gene' - 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'espin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.31"^^http://www.w3.org/2001/XMLSchema#string + 'espin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_306504 Label: Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Junctional epidermolysis bullosa' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic interstitial lung disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Junctional epidermolysis bullosa' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_160244 Label: estrogen-related receptor beta - 'estrogen-related receptor beta' SubClassOf 'gene' - 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'estrogen-related receptor beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'estrogen-related receptor beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_286546 Label: chromosome 9 open reading frame 72 - 'chromosome 9 open reading frame 72' SubClassOf 'gene' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like syndrome due to C9ORF72 expansions' - 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' - 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'chromosome 9 open reading frame 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Huntington disease-like syndrome due to C9ORF72 expansions' + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' + 'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'chromosome 9 open reading frame 72' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2597 Label: Mitochondrial myopathy - lactic acidosis - deafness - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'disease' - 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'disease' + 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_2598 Label: Mitochondrial myopathy and sideroblastic anemia - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label: catenin (cadherin-associated protein), beta 1, 88kDa - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilomatrixoma' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'gene' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive spastic diplegia syndrome' - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pilomatrixoma' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21"^^http://www.w3.org/2001/XMLSchema#string + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-progressive spastic diplegia syndrome' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' Class: http://www.orpha.net/ORDO/Orphanet_123615 Label: myosin, heavy chain 2, skeletal muscle, adult - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'gene' - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' - 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' + 'myosin, heavy chain 2, skeletal muscle, adult' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_123610 Label: myosin, heavy chain 14, non-muscle - 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'myosin, heavy chain 14, non-muscle' SubClassOf 'gene' - 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' + 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin, heavy chain 14, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' + 'myosin, heavy chain 14, non-muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120884 Label: cystinosin, lysosomal cystine transporter - 'cystinosin, lysosomal cystine transporter' SubClassOf 'gene' - 'cystinosin, lysosomal cystine transporter' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinosis' + 'cystinosin, lysosomal cystine transporter' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cystinosin, lysosomal cystine transporter' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string + 'cystinosin, lysosomal cystine transporter' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cystinosis' Class: http://www.orpha.net/ORDO/Orphanet_181419 Label: Rare hypoaldosteronism - 'Rare hypoaldosteronism' SubClassOf 'group of disorders' + 'Rare hypoaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119583 Label: aldehyde dehydrogenase 3 family, member A2 - 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sj�gren-Larsson syndrome' - 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'gene' + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sj�gren-Larsson syndrome' + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 3 family, member A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2590 Label: Hereditary myoclonus - progressive distal muscular atrophy - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'disease' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'part_of' some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'disease' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_2591 Label: Infantile myofibromatosis - 'Infantile myofibromatosis' SubClassOf 'disease' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Rare soft tissue tumor' - 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Infantile myofibromatosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Muscular tumor' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile myofibromatosis' SubClassOf 'part_of' some 'Genetic skin tumor' + 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile myofibromatosis' SubClassOf 'disease' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Infantile myofibromatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic soft tissue tumor' + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular tumor' + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare soft tissue tumor' + 'Infantile myofibromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.67"^^http://www.w3.org/2001/XMLSchema#string) + 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Infantile myofibromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_181415 Label: Rare primary hyperaldosteronism - 'Rare primary hyperaldosteronism' SubClassOf 'group of disorders' + 'Rare primary hyperaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181412 Label: Adrenogenital syndrome - 'Adrenogenital syndrome' SubClassOf 'group of disorders' + 'Adrenogenital syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2593 Label: Tubular aggregate myopathy - 'Tubular aggregate myopathy' SubClassOf 'disease' - 'Tubular aggregate myopathy' SubClassOf 'part_of' some 'Congenital myopathy' - 'Tubular aggregate myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tubular aggregate myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tubular aggregate myopathy' SubClassOf 'disease' + 'Tubular aggregate myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' Class: http://www.orpha.net/ORDO/Orphanet_217678 Label: Unclassified cardiomyopathy - 'Unclassified cardiomyopathy' SubClassOf 'group of disorders' + 'Unclassified cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2596 Label: Myopathy and diabetes mellitus - 'Myopathy and diabetes mellitus' SubClassOf 'disease' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Maternally-inherited mitochondrial myopathy' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Myopathy and diabetes mellitus' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular lipidosis' + 'Myopathy and diabetes mellitus' SubClassOf 'disease' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Maternally-inherited mitochondrial myopathy' Class: http://www.orpha.net/ORDO/Orphanet_93333 Label: Pelviscapular dysplasia - 'Pelviscapular dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pelviscapular dysplasia' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Pelviscapular dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pelviscapular dysplasia' SubClassOf 'disease' - 'Pelviscapular dysplasia' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pelviscapular dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pelviscapular dysplasia' SubClassOf 'disease' + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Pelviscapular dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pelviscapular dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pelviscapular dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_213615 Label: Rhabdomyosarcoma of the corpus uteri - 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Sarcoma of the corpus uteri' - 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the corpus uteri' SubClassOf 'disease' + 'Rhabdomyosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sarcoma of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_262803 Label: Partial duplication of the short arm of chromosome 17 - 'Partial duplication of the short arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial duplication of the short arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93334 Label: Postaxial polydactyly type A - 'Postaxial polydactyly type A' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Postaxial polydactyly type A' SubClassOf 'part_of' some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type A' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93335 Label: Postaxial polydactyly type B - 'Postaxial polydactyly type B' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly type B' SubClassOf 'part_of' some 'Postaxial polydactyly of fingers' + 'Postaxial polydactyly type B' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_93336 Label: Polydactyly of a triphalangeal thumb - 'Polydactyly of a triphalangeal thumb' SubClassOf 'morphological anomaly' - 'Polydactyly of a triphalangeal thumb' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polydactyly of a triphalangeal thumb' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Polydactyly of a triphalangeal thumb' SubClassOf 'morphological anomaly' + 'Polydactyly of a triphalangeal thumb' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of a triphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_93337 Label: Polydactyly of an index finger - 'Polydactyly of an index finger' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Polydactyly of an index finger' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polydactyly of an index finger' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polydactyly of an index finger' SubClassOf 'morphological anomaly' - 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Polydactyly of an index finger' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polydactyly of an index finger' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' + 'Polydactyly of an index finger' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Polydactyly of an index finger' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_93338 Label: Polysyndactyly - 'Polysyndactyly' SubClassOf 'morphological anomaly' - 'Polysyndactyly' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' - 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polysyndactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Polysyndactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polysyndactyly' SubClassOf 'morphological anomaly' + 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Polysyndactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' Class: http://www.orpha.net/ORDO/Orphanet_119588 Label: aldehyde dehydrogenase 4 family, member A1 - 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'gene' - 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 2' + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'aldehyde dehydrogenase 4 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperprolinemia type 2' Class: http://www.orpha.net/ORDO/Orphanet_213610 Label: Malignant mixed m�llerian tumor of the corpus uteri - 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'disease' - 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf 'disease' + 'Malignant mixed m�llerian tumor of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_93339 Label: Polydactyly of a biphalangeal thumb - 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'morphological anomaly' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Polydactyly of a biphalangeal thumb' SubClassOf 'part_of' some 'Preaxial polydactyly of fingers' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Polydactyly of a biphalangeal thumb' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Preaxial polydactyly of fingers' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'morphological anomaly' + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_160278 Label: intraflagellar transport 80 - 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' - 'intraflagellar transport 80' SubClassOf 'gene' - 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Verma-Naumoff type' + 'intraflagellar transport 80' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'intraflagellar transport 80' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'intraflagellar transport 80' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q25.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209484 Label: NIMA-related kinase 8 - 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' - 'NIMA-related kinase 8' SubClassOf 'gene' - 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Renal-hepatic-pancreatic dysplasia' + 'NIMA-related kinase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Renal-hepatic-pancreatic dysplasia' + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIMA-related kinase 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120878 Label: cytotoxic T-lymphocyte-associated protein 4 - 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' - 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'gene' + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf 'Major susceptibility factor in' some 'Granulomatosis with polyangiitis' + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytotoxic T-lymphocyte-associated protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_123606 Label: myosin, heavy chain 11, smooth muscle - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'gene' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial aortic dissection' - 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' + 'myosin, heavy chain 11, smooth muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Part of a fusion gene in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'myosin, heavy chain 11, smooth muscle' SubClassOf 'Candidate gene tested in' some 'Familial aortic dissection' + 'myosin, heavy chain 11, smooth muscle' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_209481 Label: growth differentiation factor 6 - 'growth differentiation factor 6' SubClassOf 'gene' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'growth differentiation factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Klippel-Feil syndrome' + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'growth differentiation factor 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q22.1"^^http://www.w3.org/2001/XMLSchema#string + 'growth differentiation factor 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_120892 Label: cathepsin C - 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haim-Munk syndrome' - 'cathepsin C' SubClassOf 'gene' - 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Papillon-Lef�vre syndrome' + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Papillon-Lef�vre syndrome' + 'cathepsin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haim-Munk syndrome' + 'cathepsin C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q14.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_377705 Label: integrin, alpha 9 - 'integrin, alpha 9' SubClassOf 'Candidate gene tested in' some 'Congenital muscular dystrophy with hyperlaxity' - 'integrin, alpha 9' SubClassOf 'gene' + 'integrin, alpha 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'integrin, alpha 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'integrin, alpha 9' SubClassOf 'Candidate gene tested in' some 'Congenital muscular dystrophy with hyperlaxity' Class: http://www.orpha.net/ORDO/Orphanet_123626 Label: myosin, heavy chain 8, skeletal muscle, perinatal - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex-trismus-pseudocamptodactyly syndrome' - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trismus - pseudocamptodactyly' - 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'gene' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Carney complex-trismus-pseudocamptodactyly syndrome' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf 'Disease-causing germline mutation(s) in' some 'Trismus - pseudocamptodactyly' + 'myosin, heavy chain 8, skeletal muscle, perinatal' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90120 Label: Hereditary motor and sensory neuropathy type 6 - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'disease' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_160257 Label: GLE1 RNA export mediator - 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arthrogryposis - anterior horn cell disease' - 'GLE1 RNA export mediator' SubClassOf 'gene' - 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 1' + 'GLE1 RNA export mediator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.13"^^http://www.w3.org/2001/XMLSchema#string + 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal arthrogryposis - anterior horn cell disease' + 'GLE1 RNA export mediator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'GLE1 RNA export mediator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_123621 Label: myosin, heavy chain 7, cardiac muscle, beta - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaline body myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'gene' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laing early-onset distal myopathy' - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ebstein malformation' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyaline body myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laing early-onset distal myopathy' + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ebstein malformation' Class: http://www.orpha.net/ORDO/Orphanet_181408 Label: Rare hyperparathyroidism - 'Rare hyperparathyroidism' SubClassOf 'group of disorders' + 'Rare hyperparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120897 Label: cathepsin K - 'cathepsin K' SubClassOf 'gene' - 'cathepsin K' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pycnodysostosis' + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin K' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Pycnodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_285468 Label: WD repeat domain 19 - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' - 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' - 'WD repeat domain 19' SubClassOf 'gene' + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile autosomal recessive medullary cystic kidney disease' + 'WD repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 19' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4p14"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Jeune syndrome' + 'WD repeat domain 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cranioectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_181405 Label: Rare hypoparathyroidism - 'Rare hypoparathyroidism' SubClassOf 'group of disorders' + 'Rare hypoparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119573 Label: aminolevulinate, delta-, synthase 2 - 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked sideroblastic anemia' - 'aminolevulinate, delta-, synthase 2' SubClassOf 'gene' - 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Erythropoietic protoporphyria' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Erythropoietic protoporphyria' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.21"^^http://www.w3.org/2001/XMLSchema#string + 'aminolevulinate, delta-, synthase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked sideroblastic anemia' + 'aminolevulinate, delta-, synthase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_181402 Label: Syndrome with hypoparathyroidism - 'Syndrome with hypoparathyroidism' SubClassOf 'group of disorders' + 'Syndrome with hypoparathyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93324 Label: Autosomal recessive Kenny-Caffey syndrome - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Kenny-Caffey syndrome' - 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'etiological subtype' + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kenny-Caffey syndrome' + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119578 Label: aldehyde dehydrogenase 18 family, member A1 - 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALDH18A1-related De Barsy syndrome' - 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'gene' + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf 'Disease-causing germline mutation(s) in' some 'ALDH18A1-related De Barsy syndrome' + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aldehyde dehydrogenase 18 family, member A1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3-q24.6"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93325 Label: Autosomal dominant Kenny-Caffey syndrome - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'etiological subtype' - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'part_of' some 'Kenny-Caffey syndrome' + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Kenny-Caffey syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213605 Label: Carcinofibroma of the corpus uteri - 'Carcinofibroma of the corpus uteri' SubClassOf 'disease' - 'Carcinofibroma of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Carcinofibroma of the corpus uteri' SubClassOf 'disease' + 'Carcinofibroma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' Class: http://www.orpha.net/ORDO/Orphanet_93322 Label: Tibial hemimelia - 'Tibial hemimelia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'sporadic' - 'Tibial hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Tibial hemimelia' SubClassOf 'morphological anomaly' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Tibial hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' + 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Tibial hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Tibial hemimelia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Tibial hemimelia' SubClassOf 'morphological anomaly' + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Tibial hemimelia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_210272 Label: Mal de d�barquement - 'Mal de d�barquement' SubClassOf 'clinical syndrome' - 'Mal de d�barquement' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' + 'Mal de d�barquement' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic disease' + 'Mal de d�barquement' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93323 Label: Fibular hemimelia - 'Fibular hemimelia' SubClassOf 'part_of' some 'Hemimelia' - 'Fibular hemimelia' SubClassOf 'morphological anomaly' - 'Fibular hemimelia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Fibular hemimelia' SubClassOf 'morphological anomaly' + 'Fibular hemimelia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Fibular hemimelia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_93328 Label: Autosomal dominant omodysplasia - 'Autosomal dominant omodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant omodysplasia' SubClassOf 'clinical subtype' - 'Autosomal dominant omodysplasia' SubClassOf 'part_of' some 'Omodysplasia' + 'Autosomal dominant omodysplasia' SubClassOf 'clinical subtype' + 'Autosomal dominant omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant omodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Omodysplasia' Class: http://www.orpha.net/ORDO/Orphanet_90118 Label: Severe early-onset axonal neuropathy due to MFN2 deficiency - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'disease' - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'disease' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_262812 Label: Partial trisomy/tetrasomy of the short arm of chromosome 18 - 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93329 Label: Autosomal recessive omodysplasia - 'Autosomal recessive omodysplasia' SubClassOf 'part_of' some 'Omodysplasia' - 'Autosomal recessive omodysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive omodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive omodysplasia' SubClassOf 'clinical subtype' - 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive omodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Omodysplasia' + 'Autosomal recessive omodysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive omodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive omodysplasia' SubClassOf 'clinical subtype' + 'Autosomal recessive omodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_90119 Label: Axonal Charcot-Marie-Tooth disease with acrodystrophy - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'disease' - 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary motor and sensory neuropathy' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119576 Label: albumin - 'albumin' SubClassOf 'gene' - 'albumin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital analbuminemia' + 'albumin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital analbuminemia' + 'albumin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'albumin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_213600 Label: Adenosarcoma of the corpus uteri - 'Adenosarcoma of the corpus uteri' SubClassOf 'part_of' some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' - 'Adenosarcoma of the corpus uteri' SubClassOf 'disease' + 'Adenosarcoma of the corpus uteri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant mixed epithelial and mesenchymal tumor of the corpus uteri' + 'Adenosarcoma of the corpus uteri' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90114 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_160265 Label: interleukin 2 receptor, alpha - 'interleukin 2 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to CD25 deficiency' - 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'interleukin 2 receptor, alpha' SubClassOf 'gene' - 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'interleukin 2 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p15-p14"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 2 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to CD25 deficiency' + 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'interleukin 2 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 2 receptor, alpha' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' Class: http://www.orpha.net/ORDO/Orphanet_120888 Label: cathepsin A - 'cathepsin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactosialidosis' - 'cathepsin A' SubClassOf 'gene' + 'cathepsin A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Galactosialidosis' + 'cathepsin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cathepsin A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_90117 Label: Hereditary motor and sensory neuropathy, Okinawa type - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'part_of' some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'disease' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Charcot-Marie-Tooth disease' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary axonal motor and sensory neuropathy' + 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_354122 Label: mitochondrial genome maintenance exonuclease 1 - 'mitochondrial genome maintenance exonuclease 1' SubClassOf 'gene' - 'mitochondrial genome maintenance exonuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive external ophthalmoplegia - myopathy - emaciation' + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p11.23"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial genome maintenance exonuclease 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Progressive external ophthalmoplegia - myopathy - emaciation' Class: http://www.orpha.net/ORDO/Orphanet_123619 Label: myosin, heavy chain 6, cardiac muscle, alpha - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'gene' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial isolated dilated cardiomyopathy' - 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial sick sinus syndrome' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial septal defect, ostium secundum type' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial isolated dilated cardiomyopathy' + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 6, cardiac muscle, alpha' SubClassOf 'Major susceptibility factor in' some 'Familial sick sinus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123617 Label: myosin, heavy chain 3, skeletal muscle, embryonic - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'gene' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' - 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Freeman-Sheldon syndrome' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sheldon-Hall syndrome' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digitotalar dysmorphism' + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'myosin, heavy chain 3, skeletal muscle, embryonic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Freeman-Sheldon syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119411 Label: cholinergic receptor, nicotinic, alpha 1 (muscle) - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306648 Label: Non-infectious anterior uveitis - 'Non-infectious anterior uveitis' SubClassOf 'group of disorders' + 'Non-infectious anterior uveitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86879 Label: Extranodal nasal NK/T cell lymphoma - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'disease' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf 'disease' + 'Extranodal nasal NK/T cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Extranodal nasal NK/T cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' Class: http://www.orpha.net/ORDO/Orphanet_325004 Label: CANDLE syndrome - 'CANDLE syndrome' SubClassOf 'part_of' some 'Proteasome disability syndrome' - 'CANDLE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CANDLE syndrome' SubClassOf 'clinical subtype' - 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CANDLE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CANDLE syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proteasome disability syndrome' + 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CANDLE syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CANDLE syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CANDLE syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119414 Label: cholinergic receptor, nicotinic, alpha 4 (neuronal) - 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, alpha 4 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q13.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231127 Label: Beckwith-Wiedemann syndrome due to 11p15 microdeletion - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 11' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 11' + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_90157 Label: Drug-induced localized lipodystrophy - 'Drug-induced localized lipodystrophy' SubClassOf 'disease' - 'Drug-induced localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Drug-induced localized lipodystrophy' SubClassOf 'disease' + 'Drug-induced localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_281244 Label: Autosomal ichthyosis syndrome with other associated signs - 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label: CLN7 disease - 'CLN7 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN7 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN7 disease' SubClassOf 'etiological subtype' - 'CLN7 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN7 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN7 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN7 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN7 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_90156 Label: Centrifugal lipodystrophy - 'Centrifugal lipodystrophy' SubClassOf 'disease' - 'Centrifugal lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Centrifugal lipodystrophy' SubClassOf 'disease' + 'Centrifugal lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119419 Label: cholinergic receptor, nicotinic, beta 1 (muscle) - 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_306640 Label: Rare intoxication due to medical products - 'Rare intoxication due to medical products' SubClassOf 'group of disorders' + 'Rare intoxication due to medical products' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269928 Label: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'gene' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Distal 17p13.3 microdeletion syndrome' - 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Miller-Dieker syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some 'Distal 17p13.3 microdeletion syndrome' + 'tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon' SubClassOf 'Role in the phenotype of' some '17p13.3 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_162521 Label: Congenital nasal pyriform aperture stenosis with holoprosencephaly - 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome' - 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome' + 'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_90154 Label: Mandibuloacral dysplasia with type B lipodystrophy - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'clinical subtype' - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'part_of' some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'clinical subtype' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_100094 Label: Multiple polyglandular tumor - 'Multiple polyglandular tumor' SubClassOf 'group of disorders' + 'Multiple polyglandular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231120 Label: Beckwith-Wiedemann syndrome due to CDKN1C mutation - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_281241 Label: Autosomal ichthyosis syndrome with fatal disease course - 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100093 Label: Carcinoid tumor and carcinoid syndrome - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'disease' - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'part_of' some 'Intestinal tumor' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf 'disease' + 'Carcinoid tumor and carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_90159 Label: Panniculitis and localized lipodystrophy - 'Panniculitis and localized lipodystrophy' SubClassOf 'disease' - 'Panniculitis and localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' + 'Panniculitis and localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Panniculitis and localized lipodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90158 Label: Idiopathic localized lipodystrophy - 'Idiopathic localized lipodystrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' - 'Idiopathic localized lipodystrophy' SubClassOf 'disease' + 'Idiopathic localized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Idiopathic localized lipodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90160 Label: Pressure-induced localized lipoatrophy - 'Pressure-induced localized lipoatrophy' SubClassOf 'part_of' some 'Localized lipodystrophy' - 'Pressure-induced localized lipoatrophy' SubClassOf 'disease' + 'Pressure-induced localized lipoatrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Localized lipodystrophy' + 'Pressure-induced localized lipoatrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_162516 Label: Isolated congenital nasal pyriform aperture stenosis - 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'malformation syndrome' - 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100090 Label: Rare parathyroid tumor - 'Rare parathyroid tumor' SubClassOf 'group of disorders' + 'Rare parathyroid tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100091 Label: Adrenal/paraganglial tumor - 'Adrenal/paraganglial tumor' SubClassOf 'group of disorders' + 'Adrenal/paraganglial tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100092 Label: Gastroenteropancreatic endocrine tumor - 'Gastroenteropancreatic endocrine tumor' SubClassOf 'group of disorders' + 'Gastroenteropancreatic endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_281238 Label: Autosomal ichthyosis syndrome with prominent neurologics signs - 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399572 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder - 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label: CLN6 disease - 'CLN6 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN6 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN6 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN6 disease' SubClassOf 'etiological subtype' - 'CLN6 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN6 disease' SubClassOf 'etiological subtype' + 'CLN6 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN6 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN6 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label: CLN5 disease - 'CLN5 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN5 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN5 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN5 disease' SubClassOf 'etiological subtype' + 'CLN5 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN5 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN5 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN5 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_86885 Label: Primary cutaneous unspecified peripheral T-cell lymphoma - 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'disease' - 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' + 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf 'disease' + 'Primary cutaneous unspecified peripheral T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86886 Label: Angioimmunoblastic T-cell lymphoma - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'disease' - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'disease' + 'Angioimmunoblastic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86884 Label: Subcutaneous panniculitis-like T-cell lymphoma - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'part_of' some 'Indolent primary cutaneous T-cell lymphoma' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'disease' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent primary cutaneous T-cell lymphoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare skin tumor or hamartoma' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'disease' + 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_320793 Label: actin, gamma 2, smooth muscle, enteric - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'gene' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathic intestinal pseudoobstruction' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' - 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial visceral myopathy' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathic intestinal pseudoobstruction' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'actin, gamma 2, smooth muscle, enteric' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial visceral myopathy' Class: http://www.orpha.net/ORDO/Orphanet_86882 Label: Hepatosplenic T-cell lymphoma - 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'disease' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Hepatosplenic T-cell lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.03"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatosplenic T-cell lymphoma' SubClassOf 'disease' + 'Hepatosplenic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hepatosplenic T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_75840 Label: Congenital muscular dystrophy, Ullrich type - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'disease' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.13"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'disease' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of collagen 6' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_86880 Label: Enteropathy-associated T-cell lymphoma - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'part_of' some 'Intestinal tumor' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Enteropathy-associated T-cell lymphoma' SubClassOf 'disease' + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Enteropathy-associated T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Enteropathy-associated T-cell lymphoma' SubClassOf 'disease' + 'Enteropathy-associated T-cell lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_300385 Label: Pituitary carcinoma - 'Pituitary carcinoma' SubClassOf 'disease' - 'Pituitary carcinoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Pituitary carcinoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Pituitary carcinoma' SubClassOf 'part_of' some 'Pituitary tumor' + 'Pituitary carcinoma' SubClassOf 'disease' + 'Pituitary carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Pituitary carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Pituitary carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.87"^^http://www.w3.org/2001/XMLSchema#string) + 'Pituitary carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pituitary tumor' + 'Pituitary carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_356996 Label: Intellectual disability - hypotonia - spasticity - sleep disorder - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'disease' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'disease' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_119422 Label: cholinergic receptor, nicotinic, delta (muscle) - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_119425 Label: cholinergic receptor, nicotinic, epsilon (muscle) - 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'gene' + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_231137 Label: Silver-Russell syndrome due to 7p11.2p13 microduplication - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 7' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'part_of' some 'Silver-Russell syndrome' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 7' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_300382 Label: Progeroid and marfanoid aspect-lipodystrophy syndrome - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'disease' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_183883 Label: mannosyl-oligosaccharide glucosidase - 'mannosyl-oligosaccharide glucosidase' SubClassOf 'gene' - 'mannosyl-oligosaccharide glucosidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'GCS1-CDG' + 'mannosyl-oligosaccharide glucosidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13.1"^^http://www.w3.org/2001/XMLSchema#string + 'mannosyl-oligosaccharide glucosidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mannosyl-oligosaccharide glucosidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'GCS1-CDG' Class: http://www.orpha.net/ORDO/Orphanet_100088 Label: Thyroid carcinoma - 'Thyroid carcinoma' SubClassOf 'group of disorders' + 'Thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "12.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C030 value "61.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.65"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid carcinoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119428 Label: cholinergic receptor, nicotinic, gamma (muscle) - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q37.1"^^http://www.w3.org/2001/XMLSchema#string + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, gamma (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive multiple pterygium syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228354 Label: CLN8 disease - 'CLN8 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN8 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN8 disease' SubClassOf 'etiological subtype' - 'CLN8 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN8 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN8 disease' SubClassOf 'etiological subtype' + 'CLN8 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN8 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN8 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_246552 Label: coiled-coil domain containing 39 - 'coiled-coil domain containing 39' SubClassOf 'gene' - 'coiled-coil domain containing 39' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 39' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 39' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 39' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q26.33"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100087 Label: Thyroid tumor - 'Thyroid tumor' SubClassOf 'group of disorders' + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thyroid tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100086 Label: Gallbladder endocrine tumor - 'Gallbladder endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Gallbladder endocrine tumor' SubClassOf 'part_of' some 'Rare biliary tract cancer' - 'Gallbladder endocrine tumor' SubClassOf 'disease' + 'Gallbladder endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare biliary tract cancer' + 'Gallbladder endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Gallbladder endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_246554 Label: coiled-coil domain containing 40 - 'coiled-coil domain containing 40' SubClassOf 'gene' - 'coiled-coil domain containing 40' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'coiled-coil domain containing 40' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'coiled-coil domain containing 40' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100085 Label: Hepatic endocrine tumor - 'Hepatic endocrine tumor' SubClassOf 'disease' - 'Hepatic endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Hepatic endocrine tumor' SubClassOf 'part_of' some 'Rare hepatic tumor' + 'Hepatic endocrine tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hepatic endocrine tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hepatic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Hepatic endocrine tumor' SubClassOf 'disease' + 'Hepatic endocrine tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Hepatic endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hepatic tumor' Class: http://www.orpha.net/ORDO/Orphanet_228357 Label: CLN9 disease - 'CLN9 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN9 disease' SubClassOf 'etiological subtype' - 'CLN9 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN9 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN9 disease' SubClassOf 'etiological subtype' + 'CLN9 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN9 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN9 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_100084 Label: Middle ear endocrine tumor - 'Middle ear endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' - 'Middle ear endocrine tumor' SubClassOf 'disease' - 'Middle ear endocrine tumor' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Middle ear endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Middle ear endocrine tumor' SubClassOf 'disease' + 'Middle ear endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_231130 Label: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'part_of' some 'Complex chromosomal rearrangement' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Complex chromosomal rearrangement' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_100083 Label: Laryngeal endocrine tumor - 'Laryngeal endocrine tumor' SubClassOf 'disease' - 'Laryngeal endocrine tumor' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Laryngeal endocrine tumor' SubClassOf 'part_of' some 'Endocrine tumor with other location' + 'Laryngeal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Endocrine tumor with other location' + 'Laryngeal endocrine tumor' SubClassOf 'disease' + 'Laryngeal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_306658 Label: Normocalcemic tumoral calcinosis - 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' - 'Normocalcemic tumoral calcinosis' SubClassOf 'part_of' some 'Tumoral calcinosis' + 'Normocalcemic tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumoral calcinosis' + 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100082 Label: Anal endocrine tumor - 'Anal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Anal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Anal endocrine tumor' SubClassOf 'disease' + 'Anal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Anal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Anal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100080 Label: Colon endocrine tumor - 'Colon endocrine tumor' SubClassOf 'disease' - 'Colon endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Colon endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' + 'Colon endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Colon endocrine tumor' SubClassOf 'disease' + 'Colon endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_100081 Label: Rectal endocrine tumor - 'Rectal endocrine tumor' SubClassOf 'disease' - 'Rectal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Rectal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' + 'Rectal endocrine tumor' SubClassOf 'disease' + 'Rectal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Rectal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' Class: http://www.orpha.net/ORDO/Orphanet_320785 Label: solute carrier family 5 (sodium/choline cotransporter), member 7 - 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'gene' - 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q12"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 5 (sodium/choline cotransporter), member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' Class: http://www.orpha.net/ORDO/Orphanet_162526 Label: Isolated congenital auditory ossicle malformation - 'Isolated congenital auditory ossicle malformation' SubClassOf 'morphological anomaly' - 'Isolated congenital auditory ossicle malformation' SubClassOf 'part_of' some 'Middle ear anomaly' + 'Isolated congenital auditory ossicle malformation' SubClassOf 'morphological anomaly' + 'Isolated congenital auditory ossicle malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Middle ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_363746 Label: Balint syndrome - 'Balint syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Balint syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Balint syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Balint syndrome' SubClassOf 'disease' - 'Balint syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Balint syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Balint syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Balint syndrome' SubClassOf 'disease' + 'Balint syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269925 Label: T-box 2 - 'T-box 2' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' - 'T-box 2' SubClassOf 'gene' + 'T-box 2' SubClassOf 'Role in the phenotype of' some '17q23.1q23.2 microdeletion syndrome' + 'T-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'T-box 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_399584 Label: Rare male infertility due to adrenal disorder - 'Rare male infertility due to adrenal disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285396 Label: fuzzy planar cell polarity protein - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caudal regression sequence' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida cystica' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arnold-Chiari malformation type II' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida aperta' - 'fuzzy planar cell polarity protein' SubClassOf 'gene' - 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thoracolumbosacral spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Caudal regression sequence' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lumbosacral spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Upper thoracic spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervicothoracic spina bifida cystica' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Arnold-Chiari malformation type II' + 'fuzzy planar cell polarity protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.33"^^http://www.w3.org/2001/XMLSchema#string + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Total spina bifida aperta' + 'fuzzy planar cell polarity protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cervical spina bifida aperta' Class: http://www.orpha.net/ORDO/Orphanet_86896 Label: Histiocytic sarcoma - 'Histiocytic sarcoma' SubClassOf 'disease' - 'Histiocytic sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Histiocytic sarcoma' SubClassOf 'part_of' some 'Macrophage or histiocytic tumor' + 'Histiocytic sarcoma' SubClassOf 'disease' + 'Histiocytic sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macrophage or histiocytic tumor' + 'Histiocytic sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86897 Label: Langerhans cell sarcoma - 'Langerhans cell sarcoma' SubClassOf 'part_of' some 'Dendritic cell tumor' - 'Langerhans cell sarcoma' SubClassOf 'disease' - 'Langerhans cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Langerhans cell sarcoma' SubClassOf 'disease' + 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dendritic cell tumor' + 'Langerhans cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_86893 Label: Nodular lymphocyte predominant Hodgkin lymphoma - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'part_of' some 'Hodgkin lymphoma' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'disease' - 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hodgkin lymphoma' + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Nodular lymphocyte predominant Hodgkin lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183879 Label: forkhead box N1 - 'forkhead box N1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alymphoid cystic thymic dysgenesis' - 'forkhead box N1' SubClassOf 'gene' + 'forkhead box N1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'forkhead box N1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alymphoid cystic thymic dysgenesis' + 'forkhead box N1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11-q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183893 Label: transaldolase 1 - 'transaldolase 1' SubClassOf 'gene' - 'transaldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transaldolase deficiency' + 'transaldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5-p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'transaldolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transaldolase deficiency' + 'transaldolase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_75858 Label: MORM syndrome - 'MORM syndrome' SubClassOf 'disease' - 'MORM syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'MORM syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'MORM syndrome' SubClassOf 'part_of' some 'Retinal dystrophy' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'MORM syndrome' SubClassOf 'disease' + 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_183895 Label: ADAMTS-like 2 - 'ADAMTS-like 2' SubClassOf 'gene' - 'ADAMTS-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' + 'ADAMTS-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'ADAMTS-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Geleophysic dysplasia' + 'ADAMTS-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119435 Label: carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 - 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'gene' - 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macular corneal dystrophy' + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q22"^^http://www.w3.org/2001/XMLSchema#string + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macular corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_325022 Label: ninein (GSK3B interacting protein) - 'ninein (GSK3B interacting protein)' SubClassOf 'gene' - 'ninein (GSK3B interacting protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Dauber type' + 'ninein (GSK3B interacting protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'ninein (GSK3B interacting protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism, Dauber type' + 'ninein (GSK3B interacting protein)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_165904 Label: connective tissue growth factor - 'connective tissue growth factor' SubClassOf 'gene' - 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' - 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' + 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Limited cutaneous systemic sclerosis' + 'connective tissue growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'connective tissue growth factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q23.2"^^http://www.w3.org/2001/XMLSchema#string + 'connective tissue growth factor' SubClassOf 'Major susceptibility factor in' some 'Diffuse cutaneous systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_231147 Label: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Uniparental disomy of maternal origin' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Uniparental disomy of maternal origin' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_75857 Label: 6q terminal deletion syndrome - '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '6q terminal deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 6' - '6q terminal deletion syndrome' SubClassOf 'malformation syndrome' - '6q terminal deletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '6q terminal deletion syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 6' + '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '6q terminal deletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '6q terminal deletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '6q terminal deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + '6q terminal deletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '6q terminal deletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231144 Label: Silver-Russell syndrome due to 11p15 microduplication - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 11' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'part_of' some 'Silver-Russell syndrome' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 11' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_119431 Label: carbohydrate (chondroitin 6) sulfotransferase 3 - 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'gene' - 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHST3-related skeletal dysplasia' + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CHST3-related skeletal dysplasia' + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'carbohydrate (chondroitin 6) sulfotransferase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_183890 Label: CCAAT/enhancer binding protein (C/EBP), epsilon - 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recurrent infection due to specific granule deficiency' - 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf 'gene' + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Recurrent infection due to specific granule deficiency' + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'CCAAT/enhancer binding protein (C/EBP), epsilon' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_363741 Label: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'disease' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'disease' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_306669 Label: Hemiparkinsonism-hemiatrophy syndrome - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_356961 Label: SLC35A2-CDG - 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SLC35A2-CDG' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'SLC35A2-CDG' SubClassOf 'disease' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with developmental anomaly' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'SLC35A2-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with developmental anomaly' + 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'SLC35A2-CDG' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'SLC35A2-CDG' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'SLC35A2-CDG' SubClassOf 'disease' + 'SLC35A2-CDG' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of multiple glycosylation' + 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with epilepsy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_306666 Label: Rare parkinsonian syndrome due to neurodegenerative disease - 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of disorders' + 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231140 Label: Silver-Russell syndrome due to imprinting defect of 11p15 - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some 'sporadic' - 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'part_of' some 'Silver-Russell syndrome' + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228387 Label: Spondylo-megaepiphyseal-metaphyseal dysplasia - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'disease' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'disease' + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_306661 Label: Familial tumoral calcinosis - 'Familial tumoral calcinosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial tumoral calcinosis' SubClassOf 'clinical subtype' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Disorder of O-N-acetylgalactosaminylglycan synthesis' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' - 'Familial tumoral calcinosis' SubClassOf 'part_of' some 'Tumoral calcinosis' + 'Familial tumoral calcinosis' SubClassOf 'clinical subtype' + 'Familial tumoral calcinosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tumoral calcinosis' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital disorder of glycosylation with skin involvement' + 'Familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-N-acetylgalactosaminylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_285362 Label: Rho GTPase activating protein 24 - 'Rho GTPase activating protein 24' SubClassOf 'gene' - 'Rho GTPase activating protein 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Rho GTPase activating protein 24' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_228384 Label: 5q14.3 microdeletion syndrome - '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '5q14.3 microdeletion syndrome' SubClassOf 'malformation syndrome' - '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 5' - '5q14.3 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '5q14.3 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 5' + '5q14.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '5q14.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '5q14.3 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_269953 Label: lipase maturation factor 1 - 'lipase maturation factor 1' SubClassOf 'gene' - 'lipase maturation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' + 'lipase maturation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipoproteinemia type 1' + 'lipase maturation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'lipase maturation factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401603 Label: zinc finger, MYND-type containing 15 - 'zinc finger, MYND-type containing 15' SubClassOf 'gene' - 'zinc finger, MYND-type containing 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'zinc finger, MYND-type containing 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'zinc finger, MYND-type containing 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger, MYND-type containing 15' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_293807 Label: Ketamine-induced biliary dilatation - 'Ketamine-induced biliary dilatation' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_inheritance' some 'sporadic' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Ketamine-induced biliary dilatation' SubClassOf 'part_of' some 'Rare intoxication due to medical products' - 'Ketamine-induced biliary dilatation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ketamine-induced biliary dilatation' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Ketamine-induced biliary dilatation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Ketamine-induced biliary dilatation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Ketamine-induced biliary dilatation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ketamine-induced biliary dilatation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_183886 Label: diffuse panbronchiolitis critical region 1 - 'diffuse panbronchiolitis critical region 1' SubClassOf 'gene' - 'diffuse panbronchiolitis critical region 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' + 'diffuse panbronchiolitis critical region 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.32"^^http://www.w3.org/2001/XMLSchema#string + 'diffuse panbronchiolitis critical region 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diffuse panbronchiolitis critical region 1' SubClassOf 'Major susceptibility factor in' some 'Diffuse panbronchiolitis' Class: http://www.orpha.net/ORDO/Orphanet_325017 Label: cytochrome c oxidase subunit VIIb - 'cytochrome c oxidase subunit VIIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' - 'cytochrome c oxidase subunit VIIb' SubClassOf 'gene' + 'cytochrome c oxidase subunit VIIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase subunit VIIb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with linear skin defects syndrome' + 'cytochrome c oxidase subunit VIIb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119447 Label: chloride channel, voltage-sensitive 1 - 'chloride channel, voltage-sensitive 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thomsen and Becker disease' - 'chloride channel, voltage-sensitive 1' SubClassOf 'gene' + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Thomsen and Becker disease' + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q12"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_251503 Label: phosphatidylinositol glycan anchor biosynthesis, class V - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.11"^^http://www.w3.org/2001/XMLSchema#string + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_356978 Label: D,L-2-hydroxyglutaric aciduria - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'disease' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'part_of' some '2-hydroxyglutaric aciduria' + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'D,L-2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '2-hydroxyglutaric aciduria' + 'D,L-2-hydroxyglutaric aciduria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119442 Label: class II, major histocompatibility complex, transactivator - 'class II, major histocompatibility complex, transactivator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'class II, major histocompatibility complex, transactivator' SubClassOf 'gene' + 'class II, major histocompatibility complex, transactivator' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'class II, major histocompatibility complex, transactivator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'class II, major histocompatibility complex, transactivator' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228379 Label: Virus-associated trichodysplasia spinulosa - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'part_of' some 'Rare viral disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_inheritance' some 'sporadic' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'disease' - 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare viral disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'disease' + 'Virus-associated trichodysplasia spinulosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Virus-associated trichodysplasia spinulosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306679 Label: Rare parkinsonian syndrome due to intoxication - 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of disorders' + 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231154 Label: Combined immunodeficiency T+ B+ due to partial RAG1 deficiency - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_306674 Label: Kufor-Rakeb syndrome - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Abnormal eye movements' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Kufor-Rakeb syndrome' SubClassOf 'disease' - 'Kufor-Rakeb syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Abnormal eye movements' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Kufor-Rakeb syndrome' SubClassOf 'disease' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_156005 Label: Primary glaucoma - 'Primary glaucoma' SubClassOf 'group of disorders' + 'Primary glaucoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228371 Label: Foodborne botulism - 'Foodborne botulism' SubClassOf 'has_prevalence' some 'Unknown' - 'Foodborne botulism' SubClassOf 'clinical subtype' - 'Foodborne botulism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Foodborne botulism' SubClassOf 'part_of' some 'Botulism' + 'Foodborne botulism' SubClassOf 'clinical subtype' + 'Foodborne botulism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Botulism' + 'Foodborne botulism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Foodborne botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Foodborne botulism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_363727 Label: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'disease' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'disease' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_228374 Label: Severe early-onset axonal neuropathy due to NEFL deficiency - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'disease' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'disease' + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_90153 Label: Mandibuloacral dysplasia with type A lipodystrophy - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'clinical subtype' - 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'part_of' some 'Mandibuloacral dysplasia' + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'clinical subtype' + 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mandibuloacral dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_251510 Label: 46,XY partial gonadal dysgenesis - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Female infertility due to gonadal dysgenesis' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_prevalence' some 'Unknown' - '46,XY partial gonadal dysgenesis' SubClassOf 'malformation syndrome' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - '46,XY partial gonadal dysgenesis' SubClassOf 'has_inheritance' some 'sporadic' - '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some 'Male infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '46,XY partial gonadal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + '46,XY partial gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Male infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf 'malformation syndrome' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Female infertility due to gonadal dysgenesis' + '46,XY partial gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' Class: http://www.orpha.net/ORDO/Orphanet_165921 Label: sterol carrier protein 2 - 'sterol carrier protein 2' SubClassOf 'gene' - 'sterol carrier protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - dystonia - motor neuropathy' + 'sterol carrier protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'sterol carrier protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy - dystonia - motor neuropathy' + 'sterol carrier protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_281201 Label: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'part_of' some 'Inherited non-syndromic ichthyosis' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'part_of' some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited non-syndromic ichthyosis' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363722 Label: Alexander disease type II - 'Alexander disease type II' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Alexander disease type II' SubClassOf 'part_of' some 'Alexander disease' - 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Alexander disease type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Alexander disease type II' SubClassOf 'clinical subtype' + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Alexander disease type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Alexander disease type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Alexander disease type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alexander disease' + 'Alexander disease type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306686 Label: Carbon monoxide-induced parkinsonism - 'Carbon monoxide-induced parkinsonism' SubClassOf 'part_of' some 'Rare intoxication' - 'Carbon monoxide-induced parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' - 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' + 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' + 'Carbon monoxide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Carbon monoxide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' Class: http://www.orpha.net/ORDO/Orphanet_100054 Label: Hereditary angioedema type 3 - 'Hereditary angioedema type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 3' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Hereditary angioedema type 3' SubClassOf 'etiological subtype' - 'Hereditary angioedema type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Hereditary angioedema type 3' SubClassOf 'part_of' some 'Hereditary angioedema' + 'Hereditary angioedema type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary angioedema type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary angioedema type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_231160 Label: Familial cerebral saccular aneurysm - 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial cerebral saccular aneurysm' SubClassOf 'disease' - 'Familial cerebral saccular aneurysm' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Familial cerebral saccular aneurysm' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial cerebral saccular aneurysm' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Familial cerebral saccular aneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial cerebral saccular aneurysm' SubClassOf 'disease' + 'Familial cerebral saccular aneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Familial cerebral saccular aneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_100055 Label: Acquired angioedema type 2 - 'Acquired angioedema type 2' SubClassOf 'clinical subtype' - 'Acquired angioedema type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired angioedema type 2' SubClassOf 'part_of' some 'Acquired angioedema' - 'Acquired angioedema type 2' SubClassOf 'has_inheritance' some 'sporadic' + 'Acquired angioedema type 2' SubClassOf 'clinical subtype' + 'Acquired angioedema type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired angioedema type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' Class: http://www.orpha.net/ORDO/Orphanet_100056 Label: Acquired angioedema type 1 - 'Acquired angioedema type 1' SubClassOf 'part_of' some 'Acquired angioedema' - 'Acquired angioedema type 1' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acquired angioedema type 1' SubClassOf 'has_inheritance' some 'sporadic' - 'Acquired angioedema type 1' SubClassOf 'clinical subtype' + 'Acquired angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' + 'Acquired angioedema type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acquired angioedema type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acquired angioedema type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108959 Label: Non-syndromic esophageal malformation - 'Non-syndromic esophageal malformation' SubClassOf 'group of disorders' + 'Non-syndromic esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100050 Label: Hereditary angioedema type 1 - 'Hereditary angioedema type 1' SubClassOf 'part_of' some 'Hereditary angioedema' - 'Hereditary angioedema type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary angioedema type 1' SubClassOf 'etiological subtype' - 'Hereditary angioedema type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Hereditary angioedema type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Hereditary angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 1' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_100051 Label: Hereditary angioedema type 2 - 'Hereditary angioedema type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hereditary angioedema type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary angioedema type 2' SubClassOf 'part_of' some 'Hereditary angioedema' - 'Hereditary angioedema type 2' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary angioedema' + 'Hereditary angioedema type 2' SubClassOf 'etiological subtype' + 'Hereditary angioedema type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hereditary angioedema type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_231169 Label: Usher syndrome type 1 - 'Usher syndrome type 1' SubClassOf 'clinical subtype' - 'Usher syndrome type 1' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Usher syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Usher syndrome type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 1' SubClassOf 'clinical subtype' + 'Usher syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Usher syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_86839 Label: Refractory anemia with excess blasts - 'Refractory anemia with excess blasts' SubClassOf 'part_of' some 'Myelodysplastic syndromes' - 'Refractory anemia with excess blasts' SubClassOf 'has_prevalence' some 'Unknown' - 'Refractory anemia with excess blasts' SubClassOf 'disease' - 'Refractory anemia with excess blasts' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Refractory anemia with excess blasts' SubClassOf 'has_inheritance' some 'sporadic' + 'Refractory anemia with excess blasts' SubClassOf 'disease' + 'Refractory anemia with excess blasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory anemia with excess blasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' + 'Refractory anemia with excess blasts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_86836 Label: Refractory cytopenia with multilineage dysplasia - 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'group of disorders' - 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Refractory cytopenia with multilineage dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370418 Label: zinc finger and BTB domain containing 18 - 'zinc finger and BTB domain containing 18' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 1q' - 'zinc finger and BTB domain containing 18' SubClassOf 'gene' + 'zinc finger and BTB domain containing 18' SubClassOf 'Role in the phenotype of' some 'Distal monosomy 1q' + 'zinc finger and BTB domain containing 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'zinc finger and BTB domain containing 18' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q44"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97955 Label: Rare respiratory disease - 'Rare respiratory disease' SubClassOf 'group of disorders' + 'Rare respiratory disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165929 Label: prolyl endopeptidase-like - 'prolyl endopeptidase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' - 'prolyl endopeptidase-like' SubClassOf 'gene' - 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' + 'prolyl endopeptidase-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical hypotonia - cystinuria syndrome' + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome' + 'prolyl endopeptidase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'prolyl endopeptidase-like' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some '2p21 microdeletion syndrome without cystinuria' + 'prolyl endopeptidase-like' SubClassOf 'Role in the phenotype of' some 'Hypotonia - cystinuria syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86834 Label: Juvenile myelomonocytic leukemia - 'Juvenile myelomonocytic leukemia' SubClassOf 'part_of' some 'Myelodysplastic/myeloproliferative disease' - 'Juvenile myelomonocytic leukemia' SubClassOf 'disease' - 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile myelomonocytic leukemia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Juvenile myelomonocytic leukemia' SubClassOf 'disease' + 'Juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic/myeloproliferative disease' + 'Juvenile myelomonocytic leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_100057 Label: Renin-angiotensin-aldosterone system-blocker-induced angioedema - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some 'sporadic' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'part_of' some 'Acquired angioedema' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_prevalence' some 'Unknown' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'clinical subtype' + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired angioedema' + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_97957 Label: Respiratory or thoracic malformation - 'Respiratory or thoracic malformation' SubClassOf 'group of disorders' + 'Respiratory or thoracic malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_370413 Label: eukaryotic translation elongation factor 2 - 'eukaryotic translation elongation factor 2' SubClassOf 'gene' - 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' + 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' + 'eukaryotic translation elongation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'eukaryotic translation elongation factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_165923 Label: scavenger receptor class B, member 2 - 'scavenger receptor class B, member 2' SubClassOf 'Modifying germline mutation in' some 'Gaucher disease type 1' - 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Action myoclonus - renal failure syndrome' - 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' - 'scavenger receptor class B, member 2' SubClassOf 'gene' + 'scavenger receptor class B, member 2' SubClassOf 'Modifying germline mutation in' some 'Gaucher disease type 1' + 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Action myoclonus - renal failure syndrome' + 'scavenger receptor class B, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unverricht-Lundborg disease' + 'scavenger receptor class B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'scavenger receptor class B, member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_86841 Label: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'disease' - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'part_of' some 'Myelodysplastic syndromes' + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'disease' + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myelodysplastic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_165932 Label: contactin associated protein-like 2 - 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysplasia - focal epilepsy syndrome' - 'contactin associated protein-like 2' SubClassOf 'gene' - 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' + 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cortical dysplasia - focal epilepsy syndrome' + 'contactin associated protein-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q35"^^http://www.w3.org/2001/XMLSchema#string + 'contactin associated protein-like 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'contactin associated protein-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pitt-Hopkins-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66518 Label: Short fifth metacarpals - insulin resistance - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'disease' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'part_of' some 'Insulin-resistance syndrome' - 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Short fifth metacarpals - insulin resistance' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Insulin-resistance syndrome' + 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Short fifth metacarpals - insulin resistance' SubClassOf 'disease' + 'Short fifth metacarpals - insulin resistance' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short fifth metacarpals - insulin resistance' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_97962 Label: Rare surgical thoracic disease - 'Rare surgical thoracic disease' SubClassOf 'group of disorders' + 'Rare surgical thoracic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_363717 Label: Alexander disease type I - 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Alexander disease type I' SubClassOf 'has_inheritance' some 'sporadic' - 'Alexander disease type I' SubClassOf 'part_of' some 'Alexander disease' - 'Alexander disease type I' SubClassOf 'clinical subtype' - 'Alexander disease type I' SubClassOf 'has_prevalence' some 'Unknown' + 'Alexander disease type I' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alexander disease' + 'Alexander disease type I' SubClassOf 'clinical subtype' + 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Alexander disease type I' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Alexander disease type I' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_306682 Label: Manganese poisoning - 'Manganese poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Manganese poisoning' SubClassOf 'disease' - 'Manganese poisoning' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Manganese poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Manganese poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_363710 Label: Spinocerebellar ataxia type 37 - 'Spinocerebellar ataxia type 37' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Spinocerebellar ataxia type 37' SubClassOf 'disease' - 'Spinocerebellar ataxia type 37' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Spinocerebellar ataxia type 37' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Spinocerebellar ataxia type 37' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spinocerebellar ataxia type 37' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Spinocerebellar ataxia type 37' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Spinocerebellar ataxia type 37' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281210 Label: X-linked ichthyosis syndrome - 'X-linked ichthyosis syndrome' SubClassOf 'group of disorders' + 'X-linked ichthyosis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100044 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100045 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306695 Label: Miscellaneous movement disorder due to neurodegenerative disease - 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of disorders' + 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100043 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_228399 Label: 8q12 microduplication syndrome - '8q12 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q12 microduplication syndrome' SubClassOf 'malformation syndrome' - '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8q12 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome 8' + '8q12 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q12 microduplication syndrome' SubClassOf 'malformation syndrome' + '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the long arm of chromosome 8' + '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q12 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '8q12 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_108945 Label: Variable - 'Variable' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108946 Label: No data available - 'No data available' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_55596 Label: Autosomal dominant limb-girdle muscular dystrophy type 1G - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_97944 Label: Gastroduodenal malformation - 'Gastroduodenal malformation' SubClassOf 'group of disorders' + 'Gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108941 Label: Neonatal/infancy - 'Neonatal/infancy' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_231178 Label: Usher syndrome type 2 - 'Usher syndrome type 2' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Usher syndrome type 2' SubClassOf 'clinical subtype' - 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Usher syndrome type 2' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Usher syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 2' SubClassOf 'clinical subtype' + 'Usher syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Usher syndrome type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Usher syndrome type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 Class: http://www.orpha.net/ORDO/Orphanet_55595 Label: Autosomal dominant limb-girdle muscular dystrophy type 1F - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'disease' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant limb-girdle muscular dystrophy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_97945 Label: Intestinal malformation - 'Intestinal malformation' SubClassOf 'group of disorders' + 'Intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108942 Label: Childhood - 'Childhood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_86849 Label: Acute basophilic leukemia - 'Acute basophilic leukemia' SubClassOf 'disease' - 'Acute basophilic leukemia' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute basophilic leukemia' SubClassOf 'disease' + 'Acute basophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_108943 Label: Adolescence / Young adulthood - 'Adolescence / Young adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_108944 Label: Adulthood - 'Adulthood' SubClassOf 'age of onset' Class: http://www.orpha.net/ORDO/Orphanet_86843 Label: Acute panmyelosis with myelofibrosis - 'Acute panmyelosis with myelofibrosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute panmyelosis with myelofibrosis' SubClassOf 'disease' - 'Acute panmyelosis with myelofibrosis' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Acute panmyelosis with myelofibrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute panmyelosis with myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' + 'Acute panmyelosis with myelofibrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100048 Label: Tubular duplication of the esophagus - 'Tubular duplication of the esophagus' SubClassOf 'morphological anomaly' - 'Tubular duplication of the esophagus' SubClassOf 'part_of' some 'Duplication of the esophagus' + 'Tubular duplication of the esophagus' SubClassOf 'morphological anomaly' + 'Tubular duplication of the esophagus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_100049 Label: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'group of disorders' + 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86845 Label: Acute myeloid leukemia with multilineage dysplasia - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'part_of' some 'Acute myeloid leukemia' - 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'disease' + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute myeloid leukemia' + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Acute myeloid leukemia with multilineage dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100046 Label: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'part_of' some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'disease' + 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' Class: http://www.orpha.net/ORDO/Orphanet_86846 Label: Therapy related acute myeloid leukemia and myelodysplastic syndrome - 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'group of disorders' + 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'group of disorders' + 'Therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_100047 Label: Esophageal duplication cyst - 'Esophageal duplication cyst' SubClassOf 'part_of' some 'Duplication of the esophagus' - 'Esophageal duplication cyst' SubClassOf 'morphological anomaly' + 'Esophageal duplication cyst' SubClassOf 'morphological anomaly' + 'Esophageal duplication cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Duplication of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_86851 Label: Acute leukemia of ambiguous lineage - 'Acute leukemia of ambiguous lineage' SubClassOf 'group of disorders' - 'Acute leukemia of ambiguous lineage' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acute leukemia of ambiguous lineage' SubClassOf 'group of disorders' + 'Acute leukemia of ambiguous lineage' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_86850 Label: Myeloid sarcoma - 'Myeloid sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Myeloid sarcoma' SubClassOf 'disease' - 'Myeloid sarcoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Myeloid sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Myeloid sarcoma' SubClassOf 'part_of' some 'Unclassified acute myeloid leukemia' + 'Myeloid sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Myeloid sarcoma' SubClassOf 'disease' + 'Myeloid sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Myeloid sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_86852 Label: B-cell prolymphocytic leukemia - 'B-cell prolymphocytic leukemia' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' - 'B-cell prolymphocytic leukemia' SubClassOf 'disease' - 'B-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'B-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'B-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive B-cell non-Hodgkin lymphoma' + 'B-cell prolymphocytic leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_66529 Label: Tako-Tsubo cardiomyopathy - 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'disease' - 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Tako-Tsubo cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified cardiomyopathy' + 'Tako-Tsubo cardiomyopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.98"^^http://www.w3.org/2001/XMLSchema#string) + 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Tako-Tsubo cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Tako-Tsubo cardiomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228390 Label: Frontonasal dysplasia with alopecia and genital anomaly - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Alopecia' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'malformation syndrome' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontonasal dysplasia' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_306692 Label: Cyanide-induced parkinsonism - 'Cyanide-induced parkinsonism' SubClassOf 'part_of' some 'Rare intoxication' - 'Cyanide-induced parkinsonism' SubClassOf 'disease' - 'Cyanide-induced parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to intoxication' + 'Cyanide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to intoxication' + 'Cyanide-induced parkinsonism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Cyanide-induced parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140036 Label: ubiquitin-like modifier activating enzyme 1 - 'ubiquitin-like modifier activating enzyme 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked distal arthrogryposis multiplex congenita' - 'ubiquitin-like modifier activating enzyme 1' SubClassOf 'gene' + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked distal arthrogryposis multiplex congenita' + 'ubiquitin-like modifier activating enzyme 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_363705 Label: Craniofaciofrontodigital syndrome - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Cutis laxa' - 'Craniofaciofrontodigital syndrome' SubClassOf 'disease' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutis laxa' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant craniofacial involvement' + 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofaciofrontodigital syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228396 Label: Ptosis - upper ocular movement limitation - absence of lacrimal punctum - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'malformation syndrome' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'part_of' some 'Ptosis' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'malformation syndrome' + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_100071 Label: Mosaic trisomy 3 - 'Mosaic trisomy 3' SubClassOf 'malformation syndrome' - 'Mosaic trisomy 3' SubClassOf 'part_of' some 'Total autosomal trisomy' + 'Mosaic trisomy 3' SubClassOf 'malformation syndrome' + 'Mosaic trisomy 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Total autosomal trisomy' Class: http://www.orpha.net/ORDO/Orphanet_108936 Label: mitochondrial inheritance - 'mitochondrial inheritance' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108937 Label: multigenic / multifactorial - 'multigenic / multifactorial' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100073 Label: Neurogenic thoracic outlet syndrome - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'clinical subtype' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'part_of' some 'Thoracic outlet syndrome' + 'Neurogenic thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thoracic outlet syndrome' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Neurogenic thoracic outlet syndrome' SubClassOf 'clinical subtype' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_108934 Label: x linked recessive - 'x linked recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108935 Label: x linked dominant - 'x linked dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100075 Label: Gastric endocrine tumor - 'Gastric endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Gastric endocrine tumor' SubClassOf 'disease' - 'Gastric endocrine tumor' SubClassOf 'part_of' some 'Gastro-esophageal tumor' + 'Gastric endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Gastric endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastro-esophageal tumor' + 'Gastric endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231183 Label: Usher syndrome type 3 - 'Usher syndrome type 3' SubClassOf 'part_of' some 'Usher syndrome' - 'Usher syndrome type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Usher syndrome type 3' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Usher syndrome type 3' SubClassOf 'clinical subtype' + 'Usher syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Usher syndrome type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Usher syndrome type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Usher syndrome type 3' SubClassOf 'clinical subtype' + 'Usher syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Usher syndrome' + 'Usher syndrome type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_363700 Label: Neurofibromatosis type 1 due to NF1mutation or intragenic deletion - 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'part_of' some 'Neurofibromatosis type 1' - 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'etiological subtype' + 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurofibromatosis type 1' + 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_281222 Label: Autosomal ichthyosis syndrome with prominent hair abnormalities - 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100076 Label: Duodenal endocrine tumor - 'Duodenal endocrine tumor' SubClassOf 'group of disorders' + 'Duodenal endocrine tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100077 Label: Jejunal endocrine tumor - 'Jejunal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Jejunal endocrine tumor' SubClassOf 'disease' - 'Jejunal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' + 'Jejunal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Jejunal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Jejunal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_108938 Label: sporadic - 'sporadic' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_100078 Label: Ileal endocrine tumor - 'Ileal endocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Ileal endocrine tumor' SubClassOf 'part_of' some 'Intestinal tumor' - 'Ileal endocrine tumor' SubClassOf 'disease' + 'Ileal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' + 'Ileal endocrine tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Ileal endocrine tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100079 Label: Endocrine tumor of the appendix - 'Endocrine tumor of the appendix' SubClassOf 'part_of' some 'Intestinal tumor' - 'Endocrine tumor of the appendix' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor' - 'Endocrine tumor of the appendix' SubClassOf 'disease' + 'Endocrine tumor of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal tumor' + 'Endocrine tumor of the appendix' SubClassOf 'disease' + 'Endocrine tumor of the appendix' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastroenteropancreatic endocrine tumor' Class: http://www.orpha.net/ORDO/Orphanet_97935 Label: Rare gastroenterologic disease - 'Rare gastroenterologic disease' SubClassOf 'group of disorders' + 'Rare gastroenterologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86854 Label: Splenic marginal zone lymphoma - 'Splenic marginal zone lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Splenic marginal zone lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' - 'Splenic marginal zone lymphoma' SubClassOf 'disease' + 'Splenic marginal zone lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Splenic marginal zone lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' + 'Splenic marginal zone lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86855 Label: Plasmacytoma - 'Plasmacytoma' SubClassOf 'disease' - 'Plasmacytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Plasmacytoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Plasmacytoma' SubClassOf 'part_of' some 'Hematological disease associated with an acquired peripheral neuropathy' - 'Plasmacytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Plasmacytoma' SubClassOf 'part_of' some 'Plasma cell tumor' + 'Plasmacytoma' SubClassOf 'disease' + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hematological disease associated with an acquired peripheral neuropathy' + 'Plasmacytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Plasmacytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_108932 Label: autosomal dominant - 'autosomal dominant' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108933 Label: autosomal recessive - 'autosomal recessive' SubClassOf 'inheritance' Class: http://www.orpha.net/ORDO/Orphanet_108930 Label: No data available - 'No data available' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_86864 Label: Heavy chain disease - 'Heavy chain disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Heavy chain disease' SubClassOf 'disease' - 'Heavy chain disease' SubClassOf 'part_of' some 'Plasma cell tumor' - 'Heavy chain disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Heavy chain disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Heavy chain disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Heavy chain disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86861 Label: Non-amyloid monoclonal immunoglobulin deposition disease - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'part_of' some 'Plasma cell tumor' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'disease' - 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf 'disease' + 'Non-amyloid monoclonal immunoglobulin deposition disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_90186 Label: Meige disease - 'Meige disease' SubClassOf 'part_of' some 'Late-onset primary lymphedema' - 'Meige disease' SubClassOf 'disease' + 'Meige disease' SubClassOf 'disease' + 'Meige disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late-onset primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_90185 Label: Non-hereditary late-onset primary lymphedema - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'part_of' some 'Late-onset primary lymphedema' - 'Non-hereditary late-onset primary lymphedema' SubClassOf 'disease' + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Non-hereditary late-onset primary lymphedema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'disease' + 'Non-hereditary late-onset primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late-onset primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_281217 Label: Autosomal ichthyosis syndrome - 'Autosomal ichthyosis syndrome' SubClassOf 'group of disorders' + 'Autosomal ichthyosis syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_100070 Label: Progressive non-fluent aphasia - 'Progressive non-fluent aphasia' SubClassOf 'disease' - 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Primary progressive aphasia' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Frontotemporal dementia' - 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Progressive non-fluent aphasia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Progressive non-fluent aphasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Progressive non-fluent aphasia' SubClassOf 'part_of' some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal neurodegeneration with movement disorder' + 'Progressive non-fluent aphasia' SubClassOf 'disease' + 'Progressive non-fluent aphasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Progressive non-fluent aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive non-fluent aphasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Progressive non-fluent aphasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary progressive aphasia' Class: http://www.orpha.net/ORDO/Orphanet_108923 Label: 1 / 1000 - '1 / 1000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108924 Label: 6-9 / 10 000 - '6-9 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108925 Label: 1-5 / 10 000 - '1-5 / 10 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_108926 Label: 1-9 / 100 000 - '1-9 / 100 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_77298 Label: Anophthalmia/microphthalmia - esophageal atresia - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'malformation syndrome' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some 'sporadic' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Syndromic esophageal malformation' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndromic esophageal malformation' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'malformation syndrome' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic esophageal malformation' + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' Class: http://www.orpha.net/ORDO/Orphanet_108927 Label: 1-9 / 1 000 000 - '1-9 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_77299 Label: Microphthalmia - brain atrophy - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Syndromic microphthalmia' - 'Microphthalmia - brain atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Microphthalmia - brain atrophy' SubClassOf 'malformation syndrome' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Microphthalmia - brain atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia - brain atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microphthalmia - brain atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic microphthalmia' + 'Microphthalmia - brain atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Microphthalmia - brain atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microphthalmia - brain atrophy' SubClassOf 'malformation syndrome' + 'Microphthalmia - brain atrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_100067 Label: Waterhouse-Friderichsen syndrome - 'Waterhouse-Friderichsen syndrome' SubClassOf 'clinical subtype' - 'Waterhouse-Friderichsen syndrome' SubClassOf 'part_of' some 'Acute adrenal insufficiency' + 'Waterhouse-Friderichsen syndrome' SubClassOf 'clinical subtype' + 'Waterhouse-Friderichsen syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_108928 Label: 1 / 1 000 000 - '1 / 1 000 000' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_119407 Label: charged multivesicular body protein 2B - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' - 'charged multivesicular body protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'charged multivesicular body protein 2B' SubClassOf 'gene' - 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'charged multivesicular body protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p12.1"^^http://www.w3.org/2001/XMLSchema#string + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' + 'charged multivesicular body protein 2B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'charged multivesicular body protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_108929 Label: Unknown - 'Unknown' SubClassOf 'point prevalence' Class: http://www.orpha.net/ORDO/Orphanet_97929 Label: Rare cardiac disease - 'Rare cardiac disease' SubClassOf 'group of disorders' + 'Rare cardiac disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119402 Label: choroideremia (Rab escort protein 1) - 'choroideremia (Rab escort protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' - 'choroideremia (Rab escort protein 1)' SubClassOf 'gene' + 'choroideremia (Rab escort protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'choroideremia (Rab escort protein 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Choroideremia' + 'choroideremia (Rab escort protein 1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq21.1-q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_97927 Label: Peripheral resistance to thyroid hormones - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Peripheral resistance to thyroid hormones' SubClassOf 'part_of' some 'Peripheral hypothyroidism' - 'Peripheral resistance to thyroid hormones' SubClassOf 'part_of' some 'Congenital hypothyroidism' - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Peripheral resistance to thyroid hormones' SubClassOf 'disease' - 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Peripheral resistance to thyroid hormones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital hypothyroidism' + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Peripheral resistance to thyroid hormones' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Peripheral hypothyroidism' + 'Peripheral resistance to thyroid hormones' SubClassOf 'disease' + 'Peripheral resistance to thyroid hormones' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_77295 Label: Odontoleukodystrophy - 'Odontoleukodystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Odontoleukodystrophy' SubClassOf 'disease' - 'Odontoleukodystrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Odontoleukodystrophy' SubClassOf 'part_of' some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' - 'Odontoleukodystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Odontoleukodystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Odontoleukodystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Odontoleukodystrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Odontoleukodystrophy' SubClassOf 'disease' + 'Odontoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_165958 Label: Cavitary myiasis - 'Cavitary myiasis' SubClassOf 'part_of' some 'Myiasis' - 'Cavitary myiasis' SubClassOf 'disease' + 'Cavitary myiasis' SubClassOf 'disease' + 'Cavitary myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myiasis' Class: http://www.orpha.net/ORDO/Orphanet_86867 Label: Nodal marginal zone B-cell lymphoma - 'Nodal marginal zone B-cell lymphoma' SubClassOf 'part_of' some 'Marginal zone lymphoma' - 'Nodal marginal zone B-cell lymphoma' SubClassOf 'disease' + 'Nodal marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Marginal zone lymphoma' + 'Nodal marginal zone B-cell lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77296 Label: Morgagni-Stewart-Morel syndrome - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'part_of' some 'Cranial malformation' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'malformation syndrome' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cranial malformation' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'malformation syndrome' + 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_165955 Label: Wound myiasis - 'Wound myiasis' SubClassOf 'part_of' some 'Cutaneous myiasis' - 'Wound myiasis' SubClassOf 'disease' + 'Wound myiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cutaneous myiasis' + 'Wound myiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77297 Label: Majeed syndrome - 'Majeed syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Majeed syndrome' SubClassOf 'disease' - 'Majeed syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Majeed syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Majeed syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Majeed syndrome' SubClassOf 'part_of' some 'Constitutional dyserythropoietic anemia' - 'Majeed syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Majeed syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'Majeed syndrome' SubClassOf 'disease' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Majeed syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Majeed syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional dyserythropoietic anemia' + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Majeed syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_100069 Label: Semantic dementia - 'Semantic dementia' SubClassOf 'disease' - 'Semantic dementia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Semantic dementia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Semantic dementia' SubClassOf 'has_inheritance' some 'sporadic' - 'Semantic dementia' SubClassOf 'part_of' some 'Primary progressive aphasia' - 'Semantic dementia' SubClassOf 'part_of' some 'Frontotemporal dementia' + 'Semantic dementia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Semantic dementia' SubClassOf 'disease' + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' + 'Semantic dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Semantic dementia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary progressive aphasia' + 'Semantic dementia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_86869 Label: Lymphomatoid granulomatosis - 'Lymphomatoid granulomatosis' SubClassOf 'disease' - 'Lymphomatoid granulomatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Lymphomatoid granulomatosis' SubClassOf 'part_of' some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' - 'Lymphomatoid granulomatosis' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'Lymphomatoid granulomatosis' SubClassOf 'disease' + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' + 'Lymphomatoid granulomatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Lymphomatoid granulomatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label: Niemann-Pick disease type A - 'Niemann-Pick disease type A' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Niemann-Pick disease type A' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type A' SubClassOf 'disease' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Metabolic disease with macular cherry-red spot' - 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Sphingolipidosis with epilepsy' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Niemann-Pick disease type A' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Niemann-Pick disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis with epilepsy' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Metabolic disease with macular cherry-red spot' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Niemann-Pick disease type A' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type A' SubClassOf 'disease' + 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Niemann-Pick disease type A' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Niemann-Pick disease type A' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_77293 Label: Niemann-Pick disease type B - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Sphingolipidosis' - 'Niemann-Pick disease type B' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' - 'Niemann-Pick disease type B' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Niemann-Pick disease type B' SubClassOf 'disease' - 'Niemann-Pick disease type B' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Niemann-Pick disease type B' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Niemann-Pick disease type B' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sphingolipidosis' + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'Niemann-Pick disease type B' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Niemann-Pick disease type B' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Niemann-Pick disease type B' SubClassOf 'disease' + 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_165961 Label: Subcutaneous myiasis - 'Subcutaneous myiasis' SubClassOf 'group of disorders' + 'Subcutaneous myiasis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86871 Label: T-cell prolymphocytic leukemia - 'T-cell prolymphocytic leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'T-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'T-cell prolymphocytic leukemia' SubClassOf 'disease' + 'T-cell prolymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'T-cell prolymphocytic leukemia' SubClassOf 'disease' + 'T-cell prolymphocytic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86870 Label: CD4+/CD56+ hematodermic neoplasm - 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'disease' - 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'disease' + 'CD4+/CD56+ hematodermic neoplasm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_86873 Label: Aggressive NK-cell leukemia - 'Aggressive NK-cell leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Aggressive NK-cell leukemia' SubClassOf 'disease' - 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Aggressive NK-cell leukemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Aggressive NK-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Aggressive NK-cell leukemia' SubClassOf 'disease' + 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86872 Label: T-cell large granular lymphocyte leukemia - 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_prevalence' some 'Unknown' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'Acquired neutropenia' - 'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neutropenia' + 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' + 'T-cell large granular lymphocyte leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'T-cell large granular lymphocyte leukemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.4"^^http://www.w3.org/2001/XMLSchema#string) + 'T-cell large granular lymphocyte leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_52759 Label: Vasculitis - 'Vasculitis' SubClassOf 'group of disorders' + 'Vasculitis' SubClassOf 'Rare vascular disease' + 'Vasculitis' SubClassOf 'group of disorders' + 'Vasculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "6.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_86875 Label: Adult T-cell leukemia/lymphoma - 'Adult T-cell leukemia/lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'part_of' some 'Aggressive primary cutaneous T-cell lymphoma' - 'Adult T-cell leukemia/lymphoma' SubClassOf 'disease' + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'T-cell non-Hodgkin lymphoma' + 'Adult T-cell leukemia/lymphoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult T-cell leukemia/lymphoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Aggressive primary cutaneous T-cell lymphoma' + 'Adult T-cell leukemia/lymphoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1159 Label: Progressive pseudorheumatoid arthropathy of childhood - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_293867 Label: v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multicentric carpo-tarsal osteolysis with or without nephropathy' - 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'gene' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multicentric carpo-tarsal osteolysis with or without nephropathy' + 'v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20q11.1-q13.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_141112 Label: Nasal glial heterotopia - 'Nasal glial heterotopia' SubClassOf 'disease' - 'Nasal glial heterotopia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasal glial heterotopia' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Nasal glial heterotopia' SubClassOf 'disease' + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Nasal glial heterotopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_398043 Label: Malignant tumor of penis - 'Malignant tumor of penis' SubClassOf 'group of disorders' + 'Malignant tumor of penis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293864 Label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label: Nasal ganglioglioma - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Nasal ganglioglioma' SubClassOf 'clinical subtype' - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Ganglioglioma' + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ganglioglioma' + 'Nasal ganglioglioma' SubClassOf 'clinical subtype' + 'Nasal ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_1150 Label: Arthrogryposis multiplex congenita - whistling face - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'malformation syndrome' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'malformation syndrome' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_165976 Label: calcium/calmodulin-dependent serine protein kinase (MAGUK family) - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'gene' - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Najm type' - 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Early infantile epileptic encephalopathy' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Najm type' + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_330001 Label: Senile systemic amyloidosis - 'Senile systemic amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Senile systemic amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Senile systemic amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Senile systemic amyloidosis' SubClassOf 'disease' + 'Senile systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Senile systemic amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Senile systemic amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Senile systemic amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329341 Label: Limbic encephalitis with DPP6 antibodies - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disease' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-paraneoplastic limbic encephalitis' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_108991 Label: Syndrome with a central nervous system malformation as major feature - 'Syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' + 'Syndrome with a central nervous system malformation as major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1154 Label: Arthrogryposis with oculomotor limitation and electroretinal anomalies - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_prevalence' some 'Unknown' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'malformation syndrome' + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251561 Label: High-grade astrocytoma - 'High-grade astrocytoma' SubClassOf 'group of disorders' + 'High-grade astrocytoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_287584 Label: KH domain containing 3-like, subcortical maternal complex member - 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' - 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'gene' + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete hydatidiform mole' + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q13"^^http://www.w3.org/2001/XMLSchema#string + 'KH domain containing 3-like, subcortical maternal complex member' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1155 Label: Arthrogryposis due to muscular dystrophy - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Congenital muscular dystrophy' - 'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease' + 'Arthrogryposis due to muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease' + 'Arthrogryposis due to muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_108997 Label: Rare anemia - 'Rare anemia' SubClassOf 'group of disorders' + 'Rare anemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118246 Label: retinal degeneration 3 - 'retinal degeneration 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinal degeneration 3' SubClassOf 'gene' + 'retinal degeneration 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal degeneration 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinal degeneration 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_108999 Label: Rare intoxication - 'Rare intoxication' SubClassOf 'group of disorders' + 'Rare intoxication' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_211240 Label: Genetic vascular anomaly - 'Genetic vascular anomaly' SubClassOf 'group of disorders' + 'Genetic vascular anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108993 Label: Non-syndromic respiratory or mediastinal malformation - 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251558 Label: Tumor of the neuroepithelial tissue - 'Tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' + 'Tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_314022 Label: Gastric adenocarcinoma and proximal polyposis of the stomach - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'disease' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Gastric cancer' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'disease' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gastric cancer' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_108995 Label: Syndromic respiratory or mediastinal malformation - 'Syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' + 'Syndromic respiratory or mediastinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_165966 Label: cholinergic receptor, nicotinic, beta 2 (neuronal) - 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'gene' - 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'cholinergic receptor, nicotinic, beta 2 (neuronal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_211243 Label: Vascular malformation - 'Vascular malformation' SubClassOf 'group of disorders' + 'Vascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_141107 Label: Nasopharyngeal teratoma - 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' - 'Nasopharyngeal teratoma' SubClassOf 'clinical subtype' - 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Teratoma' + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare otorhinolaryngologic tumor' + 'Nasopharyngeal teratoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Teratoma' + 'Nasopharyngeal teratoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_307773 Label: Autosomal dominant diffuse mutilating palmoplantar keratoderma - 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of disorders' + 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300319 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2P - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_211247 Label: Capillary malformation - 'Capillary malformation' SubClassOf 'group of disorders' + 'Capillary malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300313 Label: Congenital cataract-hearing loss-severe developmental delay syndrome - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'disease' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'disease' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_314029 Label: High bone mass osteogenesis imperfecta - 'High bone mass osteogenesis imperfecta' SubClassOf 'disease' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'High bone mass osteogenesis imperfecta' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'High bone mass osteogenesis imperfecta' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'High bone mass osteogenesis imperfecta' SubClassOf 'disease' + 'High bone mass osteogenesis imperfecta' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'High bone mass osteogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'High bone mass osteogenesis imperfecta' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'High bone mass osteogenesis imperfecta' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_398053 Label: Adenocarcinoma of penis - 'Adenocarcinoma of penis' SubClassOf 'disease' - 'Adenocarcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' + 'Adenocarcinoma of penis' SubClassOf 'disease' + 'Adenocarcinoma of penis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_1145 Label: X-linked distal arthrogryposis multiplex congenita - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'disease' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1146 Label: Digitotalar dysmorphism - 'Digitotalar dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Digitotalar dysmorphism' SubClassOf 'malformation syndrome' - 'Digitotalar dysmorphism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Digitotalar dysmorphism' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Digitotalar dysmorphism' SubClassOf 'part_of' some 'Distal arthrogryposis' + 'Digitotalar dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Digitotalar dysmorphism' SubClassOf 'malformation syndrome' + 'Digitotalar dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Digitotalar dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Digitotalar dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_141121 Label: Congenital subglottic stenosis - 'Congenital subglottic stenosis' SubClassOf 'part_of' some 'Larynx anomaly' - 'Congenital subglottic stenosis' SubClassOf 'malformation syndrome' + 'Congenital subglottic stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' + 'Congenital subglottic stenosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1147 Label: Sheldon-Hall syndrome - 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sheldon-Hall syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Sheldon-Hall syndrome' SubClassOf 'malformation syndrome' - 'Sheldon-Hall syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sheldon-Hall syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sheldon-Hall syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sheldon-Hall syndrome' SubClassOf 'malformation syndrome' + 'Sheldon-Hall syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sheldon-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_141127 Label: Congenital tracheal stenosis - 'Congenital tracheal stenosis' SubClassOf 'part_of' some 'Tracheal anomaly' - 'Congenital tracheal stenosis' SubClassOf 'morphological anomaly' + 'Congenital tracheal stenosis' SubClassOf 'morphological anomaly' + 'Congenital tracheal stenosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tracheal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1149 Label: Arthrogryposis-like syndrome - 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' - 'Arthrogryposis-like syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis-like syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis-like syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' + 'Arthrogryposis-like syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_141124 Label: Congenital laryngeal cyst - 'Congenital laryngeal cyst' SubClassOf 'malformation syndrome' - 'Congenital laryngeal cyst' SubClassOf 'part_of' some 'Larynx anomaly' + 'Congenital laryngeal cyst' SubClassOf 'malformation syndrome' + 'Congenital laryngeal cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Larynx anomaly' Class: http://www.orpha.net/ORDO/Orphanet_165985 Label: Diazoxide-sensitive diffuse hyperinsulinism - 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_330015 Label: Lead poisoning - 'Lead poisoning' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Lead poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Lead poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Lead poisoning' SubClassOf 'disease' + 'Lead poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.68"^^http://www.w3.org/2001/XMLSchema#string) + 'Lead poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Lead poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Lead poisoning' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Lead poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251576 Label: Gliosarcoma - 'Gliosarcoma' SubClassOf 'part_of' some 'Glioblastoma' - 'Gliosarcoma' SubClassOf 'histopathological subtype' - 'Gliosarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Gliosarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Gliosarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glioblastoma' + 'Gliosarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gliosarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gliosarcoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_398058 Label: Squamous cell carcinoma of penis - 'Squamous cell carcinoma of penis' SubClassOf 'disease' - 'Squamous cell carcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' + 'Squamous cell carcinoma of penis' SubClassOf 'disease' + 'Squamous cell carcinoma of penis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_329332 Label: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'malformation syndrome' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'malformation syndrome' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with microcephaly as major feature' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_97992 Label: Rare hematologic disease - 'Rare hematologic disease' SubClassOf 'group of disorders' + 'Rare hematologic disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118253 Label: retinol dehydrogenase 5 (11-cis/9-cis) - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' - 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'gene' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13-q14"^^http://www.w3.org/2001/XMLSchema#string + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis punctata albescens' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fundus albipunctatus' + 'retinol dehydrogenase 5 (11-cis/9-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_226292 Label: Permanent congenital hypothyroidism - 'Permanent congenital hypothyroidism' SubClassOf 'group of disorders' + 'Permanent congenital hypothyroidism' SubClassOf 'group of disorders' + 'Permanent congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Permanent congenital hypothyroidism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Permanent congenital hypothyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Permanent congenital hypothyroidism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Permanent congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "33.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_118250 Label: retinol dehydrogenase 12 (all-trans/9-cis/11-cis) - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' - 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'gene' + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinol dehydrogenase 12 (all-trans/9-cis/11-cis)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_1143 Label: Neurogenic arthrogryposis multiplex congenita - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'disease' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_prevalence' some 'Unknown' + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_226295 Label: Primary congenital hypothyroidism - 'Primary congenital hypothyroidism' SubClassOf 'group of disorders' + 'Primary congenital hypothyroidism' SubClassOf 'group of disorders' + 'Primary congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "58.62"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary congenital hypothyroidism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "37.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_1144 Label: Arthrogryposis-like hand anomaly - sensorineural deafness - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'malformation syndrome' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'malformation syndrome' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_118257 Label: RecQ protein-like 4 - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAPADILINO syndrome' - 'RecQ protein-like 4' SubClassOf 'gene' - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baller-Gerold syndrome' - 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rothmund-Thomson syndrome type 2' + 'RecQ protein-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAPADILINO syndrome' + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Baller-Gerold syndrome' + 'RecQ protein-like 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rothmund-Thomson syndrome type 2' + 'RecQ protein-like 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_108987 Label: Syndromic developmental defect of the eye - 'Syndromic developmental defect of the eye' SubClassOf 'group of disorders' + 'Syndromic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_226298 Label: Central congenital hypothyroidism - 'Central congenital hypothyroidism' SubClassOf 'group of disorders' + 'Central congenital hypothyroidism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108985 Label: Non-syndromic developmental defect of the eye - 'Non-syndromic developmental defect of the eye' SubClassOf 'group of disorders' + 'Non-syndromic developmental defect of the eye' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_211255 Label: Lymphatic system malformation - 'Lymphatic system malformation' SubClassOf 'group of disorders' + 'Lymphatic system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329336 Label: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'part_of' some 'Mitochondrial myopathy' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_54028 Label: Plummer-Vinson syndrome - 'Plummer-Vinson syndrome' SubClassOf 'disease' - 'Plummer-Vinson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Plummer-Vinson syndrome' SubClassOf 'part_of' some 'Rare acquired deficiency anemia' - 'Plummer-Vinson syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Plummer-Vinson syndrome' SubClassOf 'part_of' some 'Rare gastroesophageal disease' + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired deficiency anemia' + 'Plummer-Vinson syndrome' SubClassOf 'disease' + 'Plummer-Vinson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Plummer-Vinson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Plummer-Vinson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Plummer-Vinson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_314034 Label: 7p22.1 microduplication syndrome - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 7' - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '7p22.1 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '7p22.1 microduplication syndrome' SubClassOf 'malformation syndrome' - '7p22.1 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '7p22.1 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '7p22.1 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '7p22.1 microduplication syndrome' SubClassOf 'malformation syndrome' + '7p22.1 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 7' + '7p22.1 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_211252 Label: Venous malformation - 'Venous malformation' SubClassOf 'group of disorders' + 'Venous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300305 Label: 11p15.4 microduplication syndrome - '11p15.4 microduplication syndrome' SubClassOf 'malformation syndrome' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - '11p15.4 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '11p15.4 microduplication syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 11' - '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '11p15.4 microduplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '11p15.4 microduplication syndrome' SubClassOf 'malformation syndrome' + '11p15.4 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial duplication of the short arm of chromosome 11' + '11p15.4 microduplication syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Overgrowth syndrome' + '11p15.4 microduplication syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_141118 Label: Nasal encephalocele - 'Nasal encephalocele' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Nasal encephalocele' SubClassOf 'clinical subtype' - 'Nasal encephalocele' SubClassOf 'part_of' some 'Isolated encephalocele' + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated encephalocele' + 'Nasal encephalocele' SubClassOf 'clinical subtype' + 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_108989 Label: Non-syndromic central nervous system malformation - 'Non-syndromic central nervous system malformation' SubClassOf 'group of disorders' + 'Non-syndromic central nervous system malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293888 Label: Familial isolated arrhythmogenic ventricular dysplasia, left dominant form - 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'clinical subtype' - 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'part_of' some 'Familial isolated arrhythmogenic right ventricular dysplasia' + 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'clinical subtype' + 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated arrhythmogenic right ventricular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1178 Label: Ataxia - tapetoretinal degeneration - 'Ataxia - tapetoretinal degeneration' SubClassOf 'disease' - 'Ataxia - tapetoretinal degeneration' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Ataxia - tapetoretinal degeneration' SubClassOf 'disease' + 'Ataxia - tapetoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' Class: http://www.orpha.net/ORDO/Orphanet_1179 Label: Benign paroxysmal tonic upgaze of childhood with ataxia - 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'part_of' some 'Rare paroxysmal movement disorder' - 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'disease' + 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'disease' + 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare paroxysmal movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_1177 Label: Early-onset cerebellar ataxia with retained tendon reflexes - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'disease' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.08"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'disease' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive degenerative and progressive cerebellar ataxia' + 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_165994 Label: Selective pituitary resistance to thyroid hormone - 'Selective pituitary resistance to thyroid hormone' SubClassOf 'disease' - 'Selective pituitary resistance to thyroid hormone' SubClassOf 'part_of' some 'Rare hyperthyroidism' + 'Selective pituitary resistance to thyroid hormone' SubClassOf 'disease' + 'Selective pituitary resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hyperthyroidism' Class: http://www.orpha.net/ORDO/Orphanet_251582 Label: Gliomatosis cerebri - 'Gliomatosis cerebri' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gliomatosis cerebri' SubClassOf 'disease' - 'Gliomatosis cerebri' SubClassOf 'part_of' some 'High-grade astrocytoma' - 'Gliomatosis cerebri' SubClassOf 'has_inheritance' some 'sporadic' + 'Gliomatosis cerebri' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gliomatosis cerebri' SubClassOf 'disease' + 'Gliomatosis cerebri' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'High-grade astrocytoma' + 'Gliomatosis cerebri' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_1174 Label: Cerebellar ataxia - ectodermal dysplasia - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'malformation syndrome' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'malformation syndrome' + 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_165991 Label: Exercise-induced hyperinsulinism - 'Exercise-induced hyperinsulinism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Exercise-induced hyperinsulinism' SubClassOf 'disease' - 'Exercise-induced hyperinsulinism' SubClassOf 'part_of' some 'Disorder of carbohydrate absorption and transport' - 'Exercise-induced hyperinsulinism' SubClassOf 'part_of' some 'Diazoxide-sensitive diffuse hyperinsulinism' + 'Exercise-induced hyperinsulinism' SubClassOf 'disease' + 'Exercise-induced hyperinsulinism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of carbohydrate absorption and transport' + 'Exercise-induced hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-sensitive diffuse hyperinsulinism' Class: http://www.orpha.net/ORDO/Orphanet_1175 Label: X-linked progressive cerebellar ataxia - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked progressive cerebellar ataxia' SubClassOf 'disease' - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'Spinocerebellar ataxia with oculomotor anomaly' - 'X-linked progressive cerebellar ataxia' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked progressive cerebellar ataxia' SubClassOf 'part_of' some 'X-linked cerebellar ataxia' + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked progressive cerebellar ataxia' SubClassOf 'disease' + 'X-linked progressive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'X-linked progressive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spinocerebellar ataxia with oculomotor anomaly' + 'X-linked progressive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_314041 Label: Marfanoid habitus - inguinal hernia - advanced bone age - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'malformation syndrome' - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1172 Label: Autosomal recessive cerebellar ataxia - 'Autosomal recessive cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1173 Label: Cerebellar ataxia - hypogonadism - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_prevalence' some 'Unknown' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'disease' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Rare hereditary ataxia' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cerebellar ataxia - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary ataxia' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'disease' + 'Cerebellar ataxia - hypogonadism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cerebellar ataxia - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disorder with hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_1170 Label: Autosomal recessive cerebelloparenchymal disorder type 3 - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'disease' - 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive congenital cerebellar ataxia' + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251589 Label: Anaplastic astrocytoma - 'Anaplastic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Anaplastic astrocytoma' SubClassOf 'part_of' some 'High-grade astrocytoma' - 'Anaplastic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Anaplastic astrocytoma' SubClassOf 'disease' + 'Anaplastic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anaplastic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'High-grade astrocytoma' + 'Anaplastic astrocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86820 Label: Familial avascular necrosis of femoral head - 'Familial avascular necrosis of femoral head' SubClassOf 'disease' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Primary avascular necrosis' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Avascular necrosis of genetic origin' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial avascular necrosis of femoral head' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial avascular necrosis of femoral head' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Familial avascular necrosis of femoral head' SubClassOf 'disease' + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Avascular necrosis of genetic origin' + 'Familial avascular necrosis of femoral head' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "5.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial avascular necrosis of femoral head' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_118260 Label: receptor accessory protein 1 - 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 31' - 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' - 'receptor accessory protein 1' SubClassOf 'gene' + 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 31' + 'receptor accessory protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'receptor accessory protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 5' + 'receptor accessory protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1171 Label: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'disease' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant cerebellar ataxia type 1' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant optic atrophy' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'disease' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_326554 Label: polyhomeotic homolog 1 (Drosophila) - 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' - 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'gene' + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'polyhomeotic homolog 1 (Drosophila)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295091 Label: Congenital absence of thigh and lower leg with foot present, bilateral - 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present' - 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of thigh and lower leg with foot present' + 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108971 Label: Non-syndromic visceral malformation - 'Non-syndromic visceral malformation' SubClassOf 'group of disorders' + 'Non-syndromic visceral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251579 Label: Giant cell glioblastoma - 'Giant cell glioblastoma' SubClassOf 'part_of' some 'Glioblastoma' - 'Giant cell glioblastoma' SubClassOf 'histopathological subtype' - 'Giant cell glioblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Giant cell glioblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Giant cell glioblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Glioblastoma' + 'Giant cell glioblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Giant cell glioblastoma' SubClassOf 'histopathological subtype' + 'Giant cell glioblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_329324 Label: Inverse Klippel-Tr�naunay syndrome - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'disease' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'part_of' some 'Arteriovenous malformation' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arteriovenous malformation' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'disease' + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Inverse Klippel-Tr�naunay syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86813 Label: Helicoid peripapillary chorioretinal degeneration - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'part_of' some 'Retinal dystrophy' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'disease' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'disease' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295093 Label: Congenital absence of both forearm and hand, unilateral - 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand' - 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both forearm and hand, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both forearm and hand' + 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_211266 Label: Arteriovenous malformation - 'Arteriovenous malformation' SubClassOf 'group of disorders' + 'Arteriovenous malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_108973 Label: Syndromic visceral malformation - 'Syndromic visceral malformation' SubClassOf 'group of disorders' + 'Syndromic visceral malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86812 Label: Autosomal recessive limb-girdle muscular dystrophy type 2K - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'part_of' some 'Disorder of O-mannosylglycan synthesis' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of O-mannosylglycan synthesis' Class: http://www.orpha.net/ORDO/Orphanet_165988 Label: Diazoxide-resistant diffuse hyperinsulinism - 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'group of disorders' + 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86815 Label: Aplasia of lacrimal and salivary glands - 'Aplasia of lacrimal and salivary glands' SubClassOf 'disease' - 'Aplasia of lacrimal and salivary glands' SubClassOf 'part_of' some 'Excretory apparatus of the lacrimal system anomaly' + 'Aplasia of lacrimal and salivary glands' SubClassOf 'disease' + 'Aplasia of lacrimal and salivary glands' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Excretory apparatus of the lacrimal system anomaly' Class: http://www.orpha.net/ORDO/Orphanet_329329 Label: Autosomal recessive frontotemporal pachygyria - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'malformation syndrome' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'part_of' some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'malformation syndrome' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive frontotemporal pachygyria' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive frontotemporal pachygyria' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic cerebral malformation due to abnormal neuronal migration' + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_295095 Label: Congenital absence of both forearm and hand, bilateral - 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype' - 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand' + 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both forearm and hand, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both forearm and hand' Class: http://www.orpha.net/ORDO/Orphanet_97978 Label: Rare endocrine disease - 'Rare endocrine disease' SubClassOf 'group of disorders' + 'Rare endocrine disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86814 Label: Benign adult familial myoclonic epilepsy - 'Benign adult familial myoclonic epilepsy' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'part_of' some 'Primary myoclonus' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'disease' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_prevalence' some 'Unknown' + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary myoclonus' + 'Benign adult familial myoclonic epilepsy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Benign adult familial myoclonic epilepsy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Benign adult familial myoclonic epilepsy' SubClassOf 'disease' + 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adolescent-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54057 Label: Thrombotic thrombocytopenic purpura - 'Thrombotic thrombocytopenic purpura' SubClassOf 'disease' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Thrombotic microangiopathy' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Thrombotic thrombocytopenic purpura' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a platelet anomaly' + 'Thrombotic thrombocytopenic purpura' SubClassOf 'disease' + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Thrombotic microangiopathy' + 'Thrombotic thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.25"^^http://www.w3.org/2001/XMLSchema#string) + 'Thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a platelet anomaly' + 'Thrombotic thrombocytopenic purpura' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Thrombotic thrombocytopenic purpura' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "25.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_173500 Label: solute carrier family 36 (proton/amino acid symporter), member 2 - 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'gene' - 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Iminoglycinuria' + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 36 (proton/amino acid symporter), member 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_86817 Label: Hemolytic anemia due to adenylate kinase deficiency - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'part_of' some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'disease' - 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295097 Label: Congenital absence of both lower leg and foot, unilateral - 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype' - 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot' + 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_108977 Label: Non-syndromic diaphragmatic or abdominal wall malformation - 'Non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' + 'Non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86816 Label: Congenital analbuminemia - 'Congenital analbuminemia' SubClassOf 'part_of' some 'Rare genetic hematologic disease' - 'Congenital analbuminemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital analbuminemia' SubClassOf 'part_of' some 'Rare hematologic disease' - 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital analbuminemia' SubClassOf 'disease' - 'Congenital analbuminemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital analbuminemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hematologic disease' + 'Congenital analbuminemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital analbuminemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital analbuminemia' SubClassOf 'disease' + 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_300333 Label: Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Basement membrane disease' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'disease' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Basement membrane disease' + 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86819 Label: Atrichia with papular lesions - 'Atrichia with papular lesions' SubClassOf 'disease' - 'Atrichia with papular lesions' SubClassOf 'part_of' some 'Alopecia' + 'Atrichia with papular lesions' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Atrichia with papular lesions' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295099 Label: Congenital absence of both lower leg and foot, bilateral - 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot' - 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of both lower leg and foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of both lower leg and foot' Class: http://www.orpha.net/ORDO/Orphanet_108979 Label: Syndromic diaphragmatic or abdominal wall malformation - 'Syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' + 'Syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86818 Label: Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome X' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'disease' - 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome X' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare constitutional hemolytic anemia' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'disease' + 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_47159 Label: Proximal renal tubular acidosis - 'Proximal renal tubular acidosis' SubClassOf 'disease' - 'Proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Proximal renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Proximal renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' + 'Proximal renal tubular acidosis' SubClassOf 'disease' + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary renal tubular acidosis' + 'Proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Proximal renal tubular acidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_300337 Label: Congenital blindness due to retinal non-attachment - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital blindness due to retinal non-attachment' SubClassOf 'disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital blindness due to retinal non-attachment' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1000.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Congenital blindness due to retinal non-attachment' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'disease' + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital blindness due to retinal non-attachment' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_138671 Label: hemoglobin, alpha 1 - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' - 'hemoglobin, alpha 1' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' - 'hemoglobin, alpha 1' SubClassOf 'gene' - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' - 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant methemoglobinemia' + 'hemoglobin, alpha 1' SubClassOf 'Role in the phenotype of' some 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' + 'hemoglobin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'hemoglobin, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemoglobin H disease' + 'hemoglobin, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hb Bart's hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_319192 Label: Diencephalic-mesencephalic junction dysplasia - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'part_of' some 'Genetic cerebral malformation' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'part_of' some 'Cerebral malformation' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'morphological anomaly' - 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cerebral malformation' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'morphological anomaly' + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_141103 Label: Nasal dermoid cyst - 'Nasal dermoid cyst' SubClassOf 'part_of' some 'Cysts and fistulae of the face and oral cavity' - 'Nasal dermoid cyst' SubClassOf 'morphological anomaly' + 'Nasal dermoid cyst' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cysts and fistulae of the face and oral cavity' + 'Nasal dermoid cyst' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_251592 Label: Low-grade astrocytoma - 'Low-grade astrocytoma' SubClassOf 'group of disorders' + 'Low-grade astrocytoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1168 Label: Ataxia - oculomotor apraxia type 1 - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Coenzyme Q10 deficiency' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' + 'Ataxia - oculomotor apraxia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_118274 Label: ret proto-oncogene - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2A' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2B' - 'ret proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' - 'ret proto-oncogene' SubClassOf 'gene' - 'ret proto-oncogene' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2A' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 2B' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ret proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'ret proto-oncogene' SubClassOf 'Candidate gene tested in' some 'Hereditary pheochromocytoma-paraganglioma' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral renal agenesis' + 'ret proto-oncogene' SubClassOf 'Major susceptibility factor in' some 'Hirschsprung disease' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'ret proto-oncogene' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Haddad syndrome' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial medullary thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_1163 Label: Aspergillosis - 'Aspergillosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Aspergillosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aspergillosis' SubClassOf 'part_of' some 'Rare mycosis' - 'Aspergillosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Aspergillosis' SubClassOf 'disease' + 'Aspergillosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Aspergillosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare mycosis' + 'Aspergillosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1164 Label: Allergic bronchopulmonary aspergillosis - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'part_of' some 'Rare allergic respiratory disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'disease' - 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare allergic respiratory disease' + 'Allergic bronchopulmonary aspergillosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_251595 Label: Diffuse astrocytoma - 'Diffuse astrocytoma' SubClassOf 'disease' - 'Diffuse astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Diffuse astrocytoma' SubClassOf 'disease' + 'Diffuse astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Low-grade astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_319199 Label: Autosomal recessive spastic paraplegia type 53 - 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' - 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 53' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118272 Label: reelin - 'reelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly syndrome, Norman-Roberts type' - 'reelin' SubClassOf 'gene' + 'reelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'reelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lissencephaly syndrome, Norman-Roberts type' + 'reelin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_276603 Label: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'part_of' some 'Diazoxide-resistant focal hyperinsulinism' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'disease' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diazoxide-resistant focal hyperinsulinism' + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1166 Label: Congenital unilateral hypoplasia of depressor anguli oris - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'morphological anomaly' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'part_of' some 'Rare head and neck malformation' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare head and neck malformation' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'morphological anomaly' + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_86830 Label: Unclassified chronic myeloproliferative disease - 'Unclassified chronic myeloproliferative disease' SubClassOf 'disease' - 'Unclassified chronic myeloproliferative disease' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Unclassified chronic myeloproliferative disease' SubClassOf 'disease' + 'Unclassified chronic myeloproliferative disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_314051 Label: Leukoencephalopathy - thalamus and brainstem anomalies - high lactate - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'part_of' some 'Leukodystrophy' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_1160 Label: Chylous ascites - 'Chylous ascites' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Chylous ascites' SubClassOf 'disease' - 'Chylous ascites' SubClassOf 'part_of' some 'Rare abdominal surgical disease' + 'Chylous ascites' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Chylous ascites' SubClassOf 'disease' + 'Chylous ascites' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare abdominal surgical disease' Class: http://www.orpha.net/ORDO/Orphanet_319195 Label: Chondroectodermal dysplasia with night blindness - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'disease' - 'Chondroectodermal dysplasia with night blindness' SubClassOf 'part_of' some 'Rare genetic eye disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic eye disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf 'disease' + 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_251598 Label: Protoplasmic astrocytoma - 'Protoplasmic astrocytoma' SubClassOf 'part_of' some 'Diffuse astrocytoma' - 'Protoplasmic astrocytoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Protoplasmic astrocytoma' SubClassOf 'histopathological subtype' - 'Protoplasmic astrocytoma' SubClassOf 'has_inheritance' some 'sporadic' + 'Protoplasmic astrocytoma' SubClassOf 'histopathological subtype' + 'Protoplasmic astrocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Protoplasmic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Diffuse astrocytoma' + 'Protoplasmic astrocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_211277 Label: Complex - combined vascular malformation - 'Complex - combined vascular malformation' SubClassOf 'group of disorders' + 'Complex - combined vascular malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86823 Label: Lissencephaly with cerebellar hypoplasia - 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'group of disorders' + 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295081 Label: Fibular hemimelia, unilateral - 'Fibular hemimelia, unilateral' SubClassOf 'part_of' some 'Fibular hemimelia' - 'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Fibular hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibular hemimelia' + 'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108961 Label: Syndromic esophageal malformation - 'Syndromic esophageal malformation' SubClassOf 'group of disorders' + 'Syndromic esophageal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86822 Label: Lissencephaly type 3 - metacarpal bone dysplasia - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'malformation syndrome' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'malformation syndrome' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_329314 Label: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'part_of' some 'Multiple mitochondrial DNA deletion syndrome' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple mitochondrial DNA deletion syndrome' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_86821 Label: Lissencephaly type 3 - familial fetal akinesia sequence - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'malformation syndrome' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'malformation syndrome' + 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' Class: http://www.orpha.net/ORDO/Orphanet_97965 Label: Rare surgical cardiac disease - 'Rare surgical cardiac disease' SubClassOf 'group of disorders' + 'Rare surgical cardiac disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295085 Label: Congenital absence of upper arm and forearm with hand present, unilateral - 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present' - 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of upper arm and forearm with hand present' + 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108965 Label: Syndromic gastroduodenal malformation - 'Syndromic gastroduodenal malformation' SubClassOf 'group of disorders' + 'Syndromic gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295083 Label: Fibular hemimelia, bilateral - 'Fibular hemimelia, bilateral' SubClassOf 'part_of' some 'Fibular hemimelia' - 'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Fibular hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Fibular hemimelia' + 'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108963 Label: Non-syndromic gastroduodenal malformation - 'Non-syndromic gastroduodenal malformation' SubClassOf 'group of disorders' + 'Non-syndromic gastroduodenal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_97966 Label: Rare eye disease - 'Rare eye disease' SubClassOf 'group of disorders' + 'Rare eye disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_329319 Label: Hereditary thrombocytosis with transverse limb defect - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Rare thrombotic disorder due to a constitutional platelet anomaly' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'disease' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'disease' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare thrombotic disorder due to a constitutional platelet anomaly' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295089 Label: Congenital absence of thigh and lower leg with foot present, unilateral - 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present' - 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype' + 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of thigh and lower leg with foot present' + 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_108969 Label: Syndromic intestinal malformation - 'Syndromic intestinal malformation' SubClassOf 'group of disorders' + 'Syndromic intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86829 Label: Chronic neutrophilic leukemia - 'Chronic neutrophilic leukemia' SubClassOf 'disease' - 'Chronic neutrophilic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Chronic neutrophilic leukemia' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Chronic neutrophilic leukemia' SubClassOf 'disease' + 'Chronic neutrophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Myeloproliferative neoplasm' + 'Chronic neutrophilic leukemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_300324 Label: Persistent polyclonal B-cell lymphocytosis - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'part_of' some 'Lymphoid hemopathy' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'disease' - 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lymphoid hemopathy' + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Persistent polyclonal B-cell lymphocytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295087 Label: Congenital absence of upper arm and forearm with hand present, bilateral - 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present' - 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype' + 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital absence of upper arm and forearm with hand present' Class: http://www.orpha.net/ORDO/Orphanet_108967 Label: Non-syndromic intestinal malformation - 'Non-syndromic intestinal malformation' SubClassOf 'group of disorders' + 'Non-syndromic intestinal malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356939 Label: UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'gene' - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondyloepimetaphyseal dysplasia with joint laxity' - 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, progeroid type' + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Spondyloepimetaphyseal dysplasia with joint laxity' + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ehlers-Danlos syndrome, progeroid type' Class: http://www.orpha.net/ORDO/Orphanet_371950 Label: FAT atypical cadherin 4 - 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' - 'FAT atypical cadherin 4' SubClassOf 'gene' + 'FAT atypical cadherin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' + 'FAT atypical cadherin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q28.1"^^http://www.w3.org/2001/XMLSchema#string + 'FAT atypical cadherin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hennekam syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171215 Label: Low anorectal malformation - 'Low anorectal malformation' SubClassOf 'morphological anomaly' - 'Low anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'Low anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' + 'Low anorectal malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_284296 Label: anoctamin 10 - 'anoctamin 10' SubClassOf 'gene' - 'anoctamin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive cerebellar ataxia' + 'anoctamin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22.1-p21.33"^^http://www.w3.org/2001/XMLSchema#string + 'anoctamin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult-onset autosomal recessive cerebellar ataxia' + 'anoctamin 10' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251523 Label: Recurrent infections - inflammatory syndrome due to zinc metabolism disorder - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'part_of' some 'Disorder of zinc metabolism' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'part_of' some 'Functional neutrophil defect' - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of zinc metabolism' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_118283 Label: replication factor C (activator 1) 2, 40kDa - 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'gene' - 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'replication factor C (activator 1) 2, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q11.23"^^http://www.w3.org/2001/XMLSchema#string + 'replication factor C (activator 1) 2, 40kDa' SubClassOf 'Role in the phenotype of' some 'Williams syndrome' + 'replication factor C (activator 1) 2, 40kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1110 Label: Aortic arch anomaly - peculiar facies - intellectual disability - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'malformation syndrome' - 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319189 Label: Familial cortical myoclonus - 'Familial cortical myoclonus' SubClassOf 'disease' - 'Familial cortical myoclonus' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial cortical myoclonus' SubClassOf 'part_of' some 'Primary myoclonus' + 'Familial cortical myoclonus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary myoclonus' + 'Familial cortical myoclonus' SubClassOf 'disease' + 'Familial cortical myoclonus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118286 Label: regulatory factor X, 5 (influences HLA class II expression) - 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'gene' + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X, 5 (influences HLA class II expression)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_1115 Label: Recessive aplasia cutis congenita of limbs - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'disease' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'disease' + 'Recessive aplasia cutis congenita of limbs' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Recessive aplasia cutis congenita of limbs' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_320756 Label: anoctamin 3 - 'anoctamin 3' SubClassOf 'gene' - 'anoctamin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cervical dystonia' + 'anoctamin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p14.2"^^http://www.w3.org/2001/XMLSchema#string + 'anoctamin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant cervical dystonia' + 'anoctamin 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_293825 Label: Congenital dyserythropoietic anemia type IV - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital dyserythropoietic anemia type IV' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital dyserythropoietic anemia type IV' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital dyserythropoietic anemia type IV' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type IV' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital dyserythropoietic anemia' Class: http://www.orpha.net/ORDO/Orphanet_1114 Label: Circumscribed cutaneous aplasia of the vertex - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_prevalence' some 'Unknown' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'malformation syndrome' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'malformation syndrome' + 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1113 Label: Aphalangy - syndactyly - microcephaly - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'malformation syndrome' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'malformation syndrome' + 'Aphalangy - syndactyly - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Aphalangy - syndactyly - microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1112 Label: Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_293822 Label: MITF-related melanoma and renal cell carcinoma predisposition syndrome - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'disease' - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'disease' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_1118 Label: Fibular aplasia - ectrodactyly - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fibular aplasia - ectrodactyly' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Fibular aplasia - ectrodactyly' SubClassOf 'malformation syndrome' - 'Fibular aplasia - ectrodactyly' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fibular aplasia - ectrodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Fibular aplasia - ectrodactyly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fibular aplasia - ectrodactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Fibular aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Fibular aplasia - ectrodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_330041 Label: Autosomal dominant methemoglobinemia - 'Autosomal dominant methemoglobinemia' SubClassOf 'clinical subtype' - 'Autosomal dominant methemoglobinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal dominant methemoglobinemia' SubClassOf 'part_of' some 'Hereditary methemoglobinemia' - 'Autosomal dominant methemoglobinemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant methemoglobinemia' SubClassOf 'clinical subtype' + 'Autosomal dominant methemoglobinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary methemoglobinemia' Class: http://www.orpha.net/ORDO/Orphanet_138681 Label: split hand/foot malformation (ectrodactyly) type 1 - 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'gene' - 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'split hand/foot malformation (ectrodactyly) type 1' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_1117 Label: Aplasia cutis - myopia - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Aplasia cutis - myopia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aplasia cutis - myopia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aplasia cutis - myopia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aplasia cutis - myopia' SubClassOf 'disease' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Syndromic myopia' - 'Aplasia cutis - myopia' SubClassOf 'part_of' some 'Mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Aplasia cutis - myopia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aplasia cutis - myopia' SubClassOf 'disease' + 'Aplasia cutis - myopia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' Class: http://www.orpha.net/ORDO/Orphanet_319182 Label: Wiedemann-Steiner syndrome - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Wiedemann-Steiner syndrome' SubClassOf 'malformation syndrome' - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Wiedemann-Steiner syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Steiner syndrome' SubClassOf 'malformation syndrome' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1116 Label: Aplasia cutis congenita - intestinal lymphangiectasia - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Mixed dermis disorder' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Genetic mixed dermis disorder' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Malformation syndrome with skin/mucosae involvement' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'disease' - 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic mixed dermis disorder' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intestinal disease' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic lymphedema' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with skin/mucosae involvement' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mixed dermis disorder' + 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295077 Label: Tibial hemimelia, unilateral - 'Tibial hemimelia, unilateral' SubClassOf 'part_of' some 'Tibial hemimelia' - 'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Tibial hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tibial hemimelia' + 'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_329308 Label: Fatty acid hydroxylase-associated neurodegeneration - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic optic atrophy' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurodegeneration with brain iron accumulation' Class: http://www.orpha.net/ORDO/Orphanet_300359 Label: PLCG2-associated antibody deficiency and immune dysregulation - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Rare urticaria' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urticaria' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Immune dysregulation disease with immunodeficiency' + 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295079 Label: Tibial hemimelia, bilateral - 'Tibial hemimelia, bilateral' SubClassOf 'part_of' some 'Tibial hemimelia' - 'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Tibial hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Tibial hemimelia' + 'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295073 Label: Ulnar hemimelia, bilateral - 'Ulnar hemimelia, bilateral' SubClassOf 'part_of' some 'Ulnar hemimelia' - 'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_118288 Label: regulatory factor X-associated ankyrin-containing protein - 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' - 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'gene' + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p12"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X-associated ankyrin-containing protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' Class: http://www.orpha.net/ORDO/Orphanet_295075 Label: Ulnar hemimelia, unilateral - 'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype' - 'Ulnar hemimelia, unilateral' SubClassOf 'part_of' some 'Ulnar hemimelia' + 'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Ulnar hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ulnar hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_371941 Label: dachsous cadherin-related 1 - 'dachsous cadherin-related 1' SubClassOf 'gene' - 'dachsous cadherin-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' + 'dachsous cadherin-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.4"^^http://www.w3.org/2001/XMLSchema#string + 'dachsous cadherin-related 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dachsous cadherin-related 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-articular syndrome' Class: http://www.orpha.net/ORDO/Orphanet_356947 Label: 3q26q27 microdeletion syndrome - '3q26q27 microdeletion syndrome' SubClassOf 'malformation syndrome' - '3q26q27 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3q26q27 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' + '3q26q27 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 3' + '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3q26q27 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3q26q27 microdeletion syndrome' SubClassOf 'malformation syndrome' + '3q26q27 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_329303 Label: PLA2G6-associated neurodegeneration - 'PLA2G6-associated neurodegeneration' SubClassOf 'group of disorders' + 'PLA2G6-associated neurodegeneration' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_171220 Label: Rectal duplication - 'Rectal duplication' SubClassOf 'morphological anomaly' - 'Rectal duplication' SubClassOf 'part_of' some 'Anorectal malformation' + 'Rectal duplication' SubClassOf 'morphological anomaly' + 'Rectal duplication' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_276608 Label: Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'part_of' some 'Familial hyperinsulinism' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some 'sporadic' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'disease' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'disease' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial hyperinsulinism' + 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295071 Label: Radial hemimelia, bilateral - 'Radial hemimelia, bilateral' SubClassOf 'part_of' some 'Radial hemimelia' - 'Radial hemimelia, bilateral' SubClassOf 'clinical subtype' + 'Radial hemimelia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radial hemimelia' + 'Radial hemimelia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251515 Label: Distal arthrogryposis type 10 - 'Distal arthrogryposis type 10' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Distal arthrogryposis type 10' SubClassOf 'malformation syndrome' - 'Distal arthrogryposis type 10' SubClassOf 'part_of' some 'Distal arthrogryposis' - 'Distal arthrogryposis type 10' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Distal arthrogryposis type 10' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Distal arthrogryposis type 10' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Distal arthrogryposis' + 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Distal arthrogryposis type 10' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Distal arthrogryposis type 10' SubClassOf 'malformation syndrome' + 'Distal arthrogryposis type 10' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_118293 Label: regulatory factor X-associated protein - 'regulatory factor X-associated protein' SubClassOf 'gene' - 'regulatory factor X-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' + 'regulatory factor X-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulatory factor X-associated protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14"^^http://www.w3.org/2001/XMLSchema#string + 'regulatory factor X-associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency by defective expression of HLA class 2' Class: http://www.orpha.net/ORDO/Orphanet_330058 Label: Hydroa vacciniforme - 'Hydroa vacciniforme' SubClassOf 'disease' - 'Hydroa vacciniforme' SubClassOf 'has_inheritance' some 'sporadic' - 'Hydroa vacciniforme' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hydroa vacciniforme' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hydroa vacciniforme' SubClassOf 'part_of' some 'Rare photodermatosis' + 'Hydroa vacciniforme' SubClassOf 'disease' + 'Hydroa vacciniforme' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Hydroa vacciniforme' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hydroa vacciniforme' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Hydroa vacciniforme' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hydroa vacciniforme' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare photodermatosis' Class: http://www.orpha.net/ORDO/Orphanet_276621 Label: Sporadic pheochromocytoma/secreting paraganglioma - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'part_of' some 'Catecholamine-producing tumor' - 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'disease' + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf 'disease' + 'Sporadic pheochromocytoma/secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Catecholamine-producing tumor' Class: http://www.orpha.net/ORDO/Orphanet_171208 Label: Intermediate anorectal malformation - 'Intermediate anorectal malformation' SubClassOf 'morphological anomaly' - 'Intermediate anorectal malformation' SubClassOf 'part_of' some 'Isolated anorectal malformation' + 'Intermediate anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated anorectal malformation' + 'Intermediate anorectal malformation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_118295 Label: retinal G protein coupled receptor - 'retinal G protein coupled receptor' SubClassOf 'gene' - 'retinal G protein coupled receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'retinal G protein coupled receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinal G protein coupled receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23"^^http://www.w3.org/2001/XMLSchema#string + 'retinal G protein coupled receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_276624 Label: Sporadic pheochromocytoma - 'Sporadic pheochromocytoma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic pheochromocytoma' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' - 'Sporadic pheochromocytoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic pheochromocytoma' SubClassOf 'clinical subtype' + 'Sporadic pheochromocytoma' SubClassOf 'clinical subtype' + 'Sporadic pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic pheochromocytoma/secreting paraganglioma' + 'Sporadic pheochromocytoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_85102 Label: Perineurioma - 'Perineurioma' SubClassOf 'group of disorders' + 'Perineurioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293812 Label: Fixed pigmented erythema - 'Fixed pigmented erythema' SubClassOf 'has_inheritance' some 'sporadic' - 'Fixed pigmented erythema' SubClassOf 'part_of' some 'Toxic dermatosis' - 'Fixed pigmented erythema' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Fixed pigmented erythema' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fixed pigmented erythema' SubClassOf 'disease' + 'Fixed pigmented erythema' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fixed pigmented erythema' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fixed pigmented erythema' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Fixed pigmented erythema' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic dermatosis' + 'Fixed pigmented erythema' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1101 Label: Anophthalmia - megalocornea - cardiopathy - skeletal anomalies - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'malformation syndrome' + 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_330050 Label: Lethal encephalopathy due to mitochondrial and peroxisomal fission defect - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_293815 Label: Toxic dermatosis - 'Toxic dermatosis' SubClassOf 'group of disorders' + 'Toxic dermatosis' SubClassOf 'group of disorders' + 'Toxic dermatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Toxic dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_1104 Label: Anophthalmia plus syndrome - 'Anophthalmia plus syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia plus syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anophthalmia plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anophthalmia plus syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anophthalmia plus syndrome' SubClassOf 'malformation syndrome' + 'Anophthalmia plus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anophthalmia plus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Anophthalmia plus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anophthalmia plus syndrome' SubClassOf 'malformation syndrome' + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anophthalmia plus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1106 Label: Microphthalmia with limb anomalies - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microphthalmia with limb anomalies' SubClassOf 'malformation syndrome' - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Microphthalmia with limb anomalies' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Microphthalmia with limb anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microphthalmia with limb anomalies' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microphthalmia with limb anomalies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Microphthalmia with limb anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Microphthalmia with limb anomalies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Microphthalmia with limb anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319171 Label: Distal 17p13.1 microdeletion syndrome - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the short arm of chromosome 17' - 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'malformation syndrome' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the short arm of chromosome 17' Class: http://www.orpha.net/ORDO/Orphanet_330054 Label: Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Syndromic cataract' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_295069 Label: Radial hemimelia, unilateral - 'Radial hemimelia, unilateral' SubClassOf 'clinical subtype' - 'Radial hemimelia, unilateral' SubClassOf 'part_of' some 'Radial hemimelia' + 'Radial hemimelia, unilateral' SubClassOf 'clinical subtype' + 'Radial hemimelia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Radial hemimelia' Class: http://www.orpha.net/ORDO/Orphanet_295067 Label: Femoral agenesis/hypoplasia, bilateral - 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia' - 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Femoral agenesis/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Femoral agenesis/hypoplasia' + 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295065 Label: Femoral agenesis/hypoplasia, unilateral - 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia' - 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' + 'Femoral agenesis/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Femoral agenesis/hypoplasia' + 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_300345 Label: Autosomal recessive systemic lupus erythematosus - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive systemic lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_295063 Label: Humeral agenesis/hypoplasia, bilateral - 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia' - 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Humeral agenesis/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humeral agenesis/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_216804 Label: Osteogenesis imperfecta type 2 - 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteogenesis imperfecta type 2' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Osteogenesis imperfecta type 2' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Osteogenesis imperfecta type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Osteogenesis imperfecta type 2' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' + 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Osteogenesis imperfecta type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295061 Label: Humeral agenesis/hypoplasia, unilateral - 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' - 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia' + 'Humeral agenesis/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Humeral agenesis/hypoplasia' + 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251529 Label: Toxic or drug-related embryofetopathy - 'Toxic or drug-related embryofetopathy' SubClassOf 'group of disorders' + 'Toxic or drug-related embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118299 Label: regulator of G-protein signaling 9 - 'regulator of G-protein signaling 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' - 'regulator of G-protein signaling 9' SubClassOf 'gene' + 'regulator of G-protein signaling 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'regulator of G-protein signaling 9' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q24"^^http://www.w3.org/2001/XMLSchema#string + 'regulator of G-protein signaling 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bradyopsia' Class: http://www.orpha.net/ORDO/Orphanet_330029 Label: Hypotrichosis-deafness syndrome - 'Hypotrichosis-deafness syndrome' SubClassOf 'disease' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Alopecia' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypotrichosis-deafness syndrome' SubClassOf 'part_of' some 'Erythrokeratoderma variabilis progressiva' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Hypotrichosis-deafness syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypotrichosis-deafness syndrome' SubClassOf 'disease' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypotrichosis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' + 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Erythrokeratoderma variabilis progressiva' Class: http://www.orpha.net/ORDO/Orphanet_1133 Label: AREDYLD syndrome - 'AREDYLD syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'AREDYLD syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Other rare diabetes mellitus' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'AREDYLD syndrome' SubClassOf 'malformation syndrome' - 'AREDYLD syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'AREDYLD syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other rare diabetes mellitus' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'AREDYLD syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic diabetes mellitus' + 'AREDYLD syndrome' SubClassOf 'malformation syndrome' + 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'AREDYLD syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1132 Label: Aortic arch defects - 'Aortic arch defects' SubClassOf 'group of disorders' - 'Aortic arch defects' SubClassOf 'has_inheritance' some 'sporadic' - 'Aortic arch defects' SubClassOf 'has_prevalence' some 'Unknown' - 'Aortic arch defects' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Aortic arch defects' SubClassOf 'group of disorders' + 'Aortic arch defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Aortic arch defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_1131 Label: X-linked mandibulofacial dysostosis - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'X-linked mandibulofacial dysostosis' SubClassOf 'malformation syndrome' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Acrofacial dysostosis' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked mandibulofacial dysostosis' SubClassOf 'has_inheritance' some 'x linked recessive' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'X-linked mandibulofacial dysostosis' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acrofacial dysostosis' + 'X-linked mandibulofacial dysostosis' SubClassOf 'malformation syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'X-linked mandibulofacial dysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic branchial arch or oral-acral syndrome' + 'X-linked mandibulofacial dysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'X-linked mandibulofacial dysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_284278 Label: synaptotagmin XIV - 'synaptotagmin XIV' SubClassOf 'gene' - 'synaptotagmin XIV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia - psychomotor retardation' + 'synaptotagmin XIV' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia - psychomotor retardation' + 'synaptotagmin XIV' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q32.2"^^http://www.w3.org/2001/XMLSchema#string + 'synaptotagmin XIV' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1130 Label: Arachnodactyly - intellectual disability - dysmorphism - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'malformation syndrome' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_276630 Label: Symptomatic form of Coffin-Lowry syndrome in female carriers - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_prevalence' some 'Unknown' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'malformation syndrome' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some 'sporadic' - 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'malformation syndrome' + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_330021 Label: Mercury poisoning - 'Mercury poisoning' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Mercury poisoning' SubClassOf 'part_of' some 'Rare intoxication' - 'Mercury poisoning' SubClassOf 'disease' + 'Mercury poisoning' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Mercury poisoning' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intoxication' + 'Mercury poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293843 Label: Craniofacial-ulnar-renal syndrome - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Craniofacial-ulnar-renal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniofacial-ulnar-renal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284271 Label: Autosomal recessive cerebellar ataxia - psychomotor retardation - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'disease' - 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive syndromic cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_319160 Label: Congenital myopathy with internal nuclei and atypical cores - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'disease' - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'part_of' some 'Congenital myopathy with cores' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'disease' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy with cores' + 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_1138 Label: Abnormal origin of the pulmonary artery - 'Abnormal origin of the pulmonary artery' SubClassOf 'group of disorders' + 'Abnormal origin of the pulmonary artery' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_293848 Label: Right temporal lobar atrophy - 'Right temporal lobar atrophy' SubClassOf 'disease' - 'Right temporal lobar atrophy' SubClassOf 'has_prevalence' some 'Unknown' - 'Right temporal lobar atrophy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Right temporal lobar atrophy' SubClassOf 'part_of' some 'Frontotemporal dementia' + 'Right temporal lobar atrophy' SubClassOf 'disease' + 'Right temporal lobar atrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Right temporal lobar atrophy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Right temporal lobar atrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Frontotemporal dementia' Class: http://www.orpha.net/ORDO/Orphanet_1136 Label: Arnold-Chiari malformation type II - 'Arnold-Chiari malformation type II' SubClassOf 'has_inheritance' some 'sporadic' - 'Arnold-Chiari malformation type II' SubClassOf 'part_of' some 'Spina bifida cystica' - 'Arnold-Chiari malformation type II' SubClassOf 'has_prevalence' some 'Unknown' - 'Arnold-Chiari malformation type II' SubClassOf 'morphological anomaly' - 'Arnold-Chiari malformation type II' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Arnold-Chiari malformation type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arnold-Chiari malformation type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spina bifida cystica' + 'Arnold-Chiari malformation type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Arnold-Chiari malformation type II' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1135 Label: Arrhinia - choanal atresia - microphthalmia - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'malformation syndrome' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'malformation syndrome' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1134 Label: Arrhinia - 'Arrhinia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arrhinia' SubClassOf 'malformation syndrome' - 'Arrhinia' SubClassOf 'has_inheritance' some 'sporadic' - 'Arrhinia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arrhinia' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Arrhinia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Arrhinia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arrhinia' SubClassOf 'malformation syndrome' + 'Arrhinia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Arrhinia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295055 Label: Amelia of upper limb, bilateral - 'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype' - 'Amelia of upper limb, bilateral' SubClassOf 'part_of' some 'Amelia of upper limb' + 'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of upper limb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of upper limb' Class: http://www.orpha.net/ORDO/Orphanet_295057 Label: Amelia of lower limb, unilateral - 'Amelia of lower limb, unilateral' SubClassOf 'part_of' some 'Amelia of lower limb' - 'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of lower limb' + 'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_295059 Label: Amelia of lower limb, bilateral - 'Amelia of lower limb, bilateral' SubClassOf 'part_of' some 'Amelia of lower limb' - 'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype' + 'Amelia of lower limb, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of lower limb' Class: http://www.orpha.net/ORDO/Orphanet_251535 Label: Maternal disease-related embryofetopathy - 'Maternal disease-related embryofetopathy' SubClassOf 'group of disorders' + 'Maternal disease-related embryofetopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300373 Label: Familial infantile gigantism - 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial infantile gigantism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial infantile gigantism' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' - 'Familial infantile gigantism' SubClassOf 'part_of' some 'Rare genetic hypothalamic or pituitary disease' - 'Familial infantile gigantism' SubClassOf 'disease' + 'Familial infantile gigantism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic hypothalamic or pituitary disease' + 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial infantile gigantism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Familial infantile gigantism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial infantile gigantism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial infantile gigantism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hypothalamic or pituitary disease' + 'Familial infantile gigantism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_311271 Label: mitochondrial poly(A) polymerase - 'mitochondrial poly(A) polymerase' SubClassOf 'gene' - 'mitochondrial poly(A) polymerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' + 'mitochondrial poly(A) polymerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial poly(A) polymerase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' + 'mitochondrial poly(A) polymerase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_295051 Label: Lower limb hypertrophy - 'Lower limb hypertrophy' SubClassOf 'part_of' some 'Limb overgrowth' - 'Lower limb hypertrophy' SubClassOf 'morphological anomaly' + 'Lower limb hypertrophy' SubClassOf 'morphological anomaly' + 'Lower limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' Class: http://www.orpha.net/ORDO/Orphanet_295053 Label: Amelia of upper limb, unilateral - 'Amelia of upper limb, unilateral' SubClassOf 'part_of' some 'Amelia of upper limb' - 'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype' + 'Amelia of upper limb, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amelia of upper limb' + 'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_276627 Label: Sporadic secreting paraganglioma - 'Sporadic secreting paraganglioma' SubClassOf 'clinical subtype' - 'Sporadic secreting paraganglioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Sporadic secreting paraganglioma' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' - 'Sporadic secreting paraganglioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Sporadic secreting paraganglioma' SubClassOf 'clinical subtype' + 'Sporadic secreting paraganglioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic secreting paraganglioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sporadic pheochromocytoma/secreting paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_1120 Label: Lung agenesis - heart defect - thumb anomalies - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'malformation syndrome' - 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'part_of' some 'Respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic respiratory or mediastinal malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'malformation syndrome' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic respiratory or mediastinal malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Respiratory malformation' + 'Lung agenesis - heart defect - thumb anomalies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_284289 Label: Adult-onset autosomal recessive cerebellar ataxia - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'disease' - 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'disease' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia' + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1122 Label: Ulnar hypoplasia - split foot - 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' - 'Ulnar hypoplasia - split foot' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Ulnar hypoplasia - split foot' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1121 Label: Radial deficiency - tibial hypoplasia - 'Radial deficiency - tibial hypoplasia' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' - 'Radial deficiency - tibial hypoplasia' SubClassOf 'malformation syndrome' + 'Radial deficiency - tibial hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with combined reduction defects of upper and lower limbs' + 'Radial deficiency - tibial hypoplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_231108 Label: Familial rhabdoid tumor - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Rhabdoid tumor' - 'Familial rhabdoid tumor' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial rhabdoid tumor' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial rhabdoid tumor' SubClassOf 'part_of' some 'Genetic soft tissue tumor' - 'Familial rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial rhabdoid tumor' SubClassOf 'clinical subtype' + 'Familial rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial rhabdoid tumor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.12"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial rhabdoid tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic soft tissue tumor' + 'Familial rhabdoid tumor' SubClassOf 'clinical subtype' + 'Familial rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rhabdoid tumor' + 'Familial rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_284282 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_293830 Label: Constitutional dyserythropoietic anemia - 'Constitutional dyserythropoietic anemia' SubClassOf 'group of disorders' - 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Constitutional dyserythropoietic anemia' SubClassOf 'group of disorders' + 'Constitutional dyserythropoietic anemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_330032 Label: Hemoglobin Lepore - beta-thalassemia - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'disease' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'disease' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_1129 Label: Arachnodactyly - abnormal ossification - intellectual disability - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'malformation syndrome' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'malformation syndrome' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_320765 Label: dehydrogenase E1 and transketolase domain containing 1 - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'gene' - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' - 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some '2-aminoadipic 2-oxoadipic aciduria' + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p14"^^http://www.w3.org/2001/XMLSchema#string + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dehydrogenase E1 and transketolase domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some '2-aminoadipic 2-oxoadipic aciduria' Class: http://www.orpha.net/ORDO/Orphanet_1123 Label: Caudal appendage - deafness - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Caudal appendage - deafness' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1126 Label: Aprosencephaly cerebellar dysgenesis - 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'part_of' some 'Midline cerebral malformation' - 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'malformation syndrome' + 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'malformation syndrome' + 'Aprosencephaly cerebellar dysgenesis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Midline cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_1125 Label: Ocular motor apraxia, Cogan type - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ocular motor apraxia, Cogan type' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease' - 'Ocular motor apraxia, Cogan type' SubClassOf 'disease' - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ocular motor apraxia, Cogan type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Ocular motor apraxia, Cogan type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ocular motor apraxia, Cogan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculomotor apraxia or related oculomotor disease' + 'Ocular motor apraxia, Cogan type' SubClassOf 'disease' + 'Ocular motor apraxia, Cogan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ocular motor apraxia, Cogan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_307766 Label: Curly hair-acral keratoderma-caries syndrome - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with odontal and/or periodontal component' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295044 Label: Macrodactyly of fingers - 'Macrodactyly of fingers' SubClassOf 'morphological anomaly' - 'Macrodactyly of fingers' SubClassOf 'part_of' some 'Limb overgrowth' + 'Macrodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Macrodactyly of fingers' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295049 Label: Upper limb hypertrophy - 'Upper limb hypertrophy' SubClassOf 'part_of' some 'Limb overgrowth' - 'Upper limb hypertrophy' SubClassOf 'morphological anomaly' + 'Upper limb hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Upper limb hypertrophy' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_295047 Label: Macrodactyly of toes - 'Macrodactyly of toes' SubClassOf 'part_of' some 'Limb overgrowth' - 'Macrodactyly of toes' SubClassOf 'morphological anomaly' + 'Macrodactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Limb overgrowth' + 'Macrodactyly of toes' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_231117 Label: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some 'sporadic' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' - 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'etiological subtype' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_164823 Label: Rare acquired medullar aplasia - 'Rare acquired medullar aplasia' SubClassOf 'group of disorders' + 'Rare acquired medullar aplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295041 Label: Patella aplasia/hypoplasia, bilateral - 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype' - 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia' + 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype' + 'Patella aplasia/hypoplasia, bilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_231111 Label: Drug-induced lupus erythematosus - 'Drug-induced lupus erythematosus' SubClassOf 'part_of' some 'Rare systemic disease' - 'Drug-induced lupus erythematosus' SubClassOf 'has_inheritance' some 'sporadic' - 'Drug-induced lupus erythematosus' SubClassOf 'disease' - 'Drug-induced lupus erythematosus' SubClassOf 'part_of' some 'Systemic disease with skin involvement' - 'Drug-induced lupus erythematosus' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Drug-induced lupus erythematosus' SubClassOf 'has_prevalence' some 'Unknown' + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic disease with skin involvement' + 'Drug-induced lupus erythematosus' SubClassOf 'disease' + 'Drug-induced lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Drug-induced lupus erythematosus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Drug-induced lupus erythematosus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_216729 Label: Congenitally uncorrected transposition of the great arteries with cardiac malformation - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'clinical subtype' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'part_of' some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'clinical subtype' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenitally uncorrected transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_295020 Label: Congenital pseudoarthrosis of the femur - 'Congenital pseudoarthrosis of the femur' SubClassOf 'clinical subtype' - 'Congenital pseudoarthrosis of the femur' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the femur' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the femur' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295022 Label: Congenital pseudoarthrosis of the fibula - 'Congenital pseudoarthrosis of the fibula' SubClassOf 'clinical subtype' - 'Congenital pseudoarthrosis of the fibula' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the fibula' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the fibula' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_85138 Label: Addison disease - 'Addison disease' SubClassOf 'part_of' some 'Acquired chronic primary adrenal insufficiency' - 'Addison disease' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Addison disease' SubClassOf 'disease' - 'Addison disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "12.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409992) and (http://www.orpha.net/ORDO/Orphanet_C032 value "54.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410157) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "14.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Addison disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired chronic primary adrenal insufficiency' + 'Addison disease' SubClassOf 'disease' + 'Addison disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Addison disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "9.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_295024 Label: Congenital pseudoarthrosis of the radius - 'Congenital pseudoarthrosis of the radius' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the radius' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the radius' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the radius' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_270347 Label: FYVE and coiled-coil domain containing 1 - 'FYVE and coiled-coil domain containing 1' SubClassOf 'gene' - 'FYVE and coiled-coil domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'FYVE and coiled-coil domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'FYVE and coiled-coil domain containing 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'FYVE and coiled-coil domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' Class: http://www.orpha.net/ORDO/Orphanet_189424 Label: ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia - 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf 'group of disorders' + 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295026 Label: Congenital pseudoarthrosis of the ulna - 'Congenital pseudoarthrosis of the ulna' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the ulna' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the ulna' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the ulna' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' Class: http://www.orpha.net/ORDO/Orphanet_295028 Label: Tibio-fibular synostosis - 'Tibio-fibular synostosis' SubClassOf 'part_of' some 'Joint formation defects' - 'Tibio-fibular synostosis' SubClassOf 'morphological anomaly' + 'Tibio-fibular synostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Joint formation defects' + 'Tibio-fibular synostosis' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_189427 Label: ACTH-independent macronodular adrenal hyperplasia - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'disease' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'part_of' some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'disease' + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.08"^^http://www.w3.org/2001/XMLSchema#string) + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'ACTH-independent macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_254913 Label: Isolated ATP synthase deficiency - 'Isolated ATP synthase deficiency' SubClassOf 'disease' - 'Isolated ATP synthase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated ATP synthase deficiency' SubClassOf 'disease' + 'Isolated ATP synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_295018 Label: Congenital pseudoarthrosis of the tibia - 'Congenital pseudoarthrosis of the tibia' SubClassOf 'part_of' some 'Congenital pseudoarthrosis of the limbs' - 'Congenital pseudoarthrosis of the tibia' SubClassOf 'clinical subtype' + 'Congenital pseudoarthrosis of the tibia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital pseudoarthrosis of the limbs' + 'Congenital pseudoarthrosis of the tibia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_254920 Label: Combined oxidative phosphorylation defect type 2 - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' Class: http://www.orpha.net/ORDO/Orphanet_270352 Label: phospholipase C, delta 1 - 'phospholipase C, delta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukonychia totalis' - 'phospholipase C, delta 1' SubClassOf 'gene' + 'phospholipase C, delta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholipase C, delta 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukonychia totalis' + 'phospholipase C, delta 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p22-p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85146 Label: Scapuloperoneal amyotrophy - 'Scapuloperoneal amyotrophy' SubClassOf 'disease' - 'Scapuloperoneal amyotrophy' SubClassOf 'part_of' some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - 'Scapuloperoneal amyotrophy' SubClassOf 'part_of' some 'Genetic motor neuron disease' - 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some 'x linked dominant' - 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Scapuloperoneal amyotrophy' SubClassOf 'disease' + 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Scapuloperoneal amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic motor neuron disease' + 'Scapuloperoneal amyotrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409934 + 'Scapuloperoneal amyotrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' Class: http://www.orpha.net/ORDO/Orphanet_270354 Label: B9 protein domain 1 - 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' - 'B9 protein domain 1' SubClassOf 'gene' - 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Meckel syndrome' + 'B9 protein domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'B9 protein domain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319254 Label: Kyasanur forest disease - 'Kyasanur forest disease' SubClassOf 'disease' - 'Kyasanur forest disease' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Kyasanur forest disease' SubClassOf 'disease' + 'Kyasanur forest disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_319251 Label: Rift valley fever - 'Rift valley fever' SubClassOf 'disease' - 'Rift valley fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Rift valley fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Rift valley fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284264 Label: Immunoglobulin G4-related sclerosing disease - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'group of disorders' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'group of disorders' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_295030 Label: Congenital shoulder dislocation - 'Congenital shoulder dislocation' SubClassOf 'morphological anomaly' - 'Congenital shoulder dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' + 'Congenital shoulder dislocation' SubClassOf 'morphological anomaly' + 'Congenital shoulder dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_216718 Label: Isolated congenitally uncorrected transposition of the great arteries - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'clinical subtype' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'sporadic' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Congenitally uncorrected transposition of the great arteries' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'clinical subtype' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenitally uncorrected transposition of the great arteries' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_85128 Label: Bothnia retinal dystrophy - 'Bothnia retinal dystrophy' SubClassOf 'disease' - 'Bothnia retinal dystrophy' SubClassOf 'part_of' some 'Retinal dystrophy' + 'Bothnia retinal dystrophy' SubClassOf 'disease' + 'Bothnia retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_295034 Label: Congenital knee dislocation - 'Congenital knee dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital knee dislocation' SubClassOf 'morphological anomaly' + 'Congenital knee dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital knee dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label: Isolated cytochrome C oxidase deficiency - 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' - 'Isolated cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Isolated cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' Class: http://www.orpha.net/ORDO/Orphanet_295032 Label: Congenital elbow dislocation - 'Congenital elbow dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital elbow dislocation' SubClassOf 'morphological anomaly' + 'Congenital elbow dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital elbow dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_254902 Label: Renal tubulopathy - encephalopathy - liver failure - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_295038 Label: Patella aplasia/hypoplasia, unilateral - 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype' - 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia' + 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype' + 'Patella aplasia/hypoplasia, unilateral' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patella aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_295036 Label: Congenital patella dislocation - 'Congenital patella dislocation' SubClassOf 'part_of' some 'Congenital joint dislocations' - 'Congenital patella dislocation' SubClassOf 'morphological anomaly' + 'Congenital patella dislocation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital joint dislocations' + 'Congenital patella dislocation' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_391022 Label: protein Z, vitamin K-dependent plasma glycoprotein - 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'gene' - 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'Candidate gene tested in' some 'Cerebral sinovenous thrombosis' + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q34"^^http://www.w3.org/2001/XMLSchema#string + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'Candidate gene tested in' some 'Cerebral sinovenous thrombosis' + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141199 Label: Cerebrofacial arteriovenous metameric syndrome type 3 - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2601 Label: Myopathy - growth delay - intellectual disability - hypospadias - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'malformation syndrome' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'malformation syndrome' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_2604 Label: Familial visceral myopathy - 'Familial visceral myopathy' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' - 'Familial visceral myopathy' SubClassOf 'disease' - 'Familial visceral myopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial visceral myopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial visceral myopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial visceral myopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial visceral myopathy' SubClassOf 'disease' + 'Familial visceral myopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial visceral myopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital intestinal motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_85136 Label: Cystic leukoencephalopathy without megalencephaly - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'disease' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'part_of' some 'Leukodystrophy' - 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'disease' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Cystic leukoencephalopathy without megalencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_319266 Label: Omsk hemorrhagic fever - 'Omsk hemorrhagic fever' SubClassOf 'disease' - 'Omsk hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Omsk hemorrhagic fever' SubClassOf 'disease' + 'Omsk hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_284258 Label: insulin-like growth factor binding protein 7 - 'insulin-like growth factor binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinal arterial macroaneurysm' - 'insulin-like growth factor binding protein 7' SubClassOf 'gene' + 'insulin-like growth factor binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q12"^^http://www.w3.org/2001/XMLSchema#string + 'insulin-like growth factor binding protein 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'insulin-like growth factor binding protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinal arterial macroaneurysm' Class: http://www.orpha.net/ORDO/Orphanet_141194 Label: Cerebrofacial arteriovenous metameric syndrome type 1 - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_200951 Label: aryl hydrocarbon receptor interacting protein - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Major susceptibility factor in' some 'Acromegaly' - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'gene' - 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated pituitary adenoma' + 'aryl hydrocarbon receptor interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'aryl hydrocarbon receptor interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Major susceptibility factor in' some 'Acromegaly' + 'aryl hydrocarbon receptor interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated pituitary adenoma' Class: http://www.orpha.net/ORDO/Orphanet_319239 Label: Brazilian hemorrhagic fever - 'Brazilian hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Brazilian hemorrhagic fever' SubClassOf 'disease' + 'Brazilian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Brazilian hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295004 Label: Central polydactyly of fingers - 'Central polydactyly of fingers' SubClassOf 'morphological anomaly' - 'Central polydactyly of fingers' SubClassOf 'part_of' some 'Polydactyly' + 'Central polydactyly of fingers' SubClassOf 'morphological anomaly' + 'Central polydactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_295006 Label: Preaxial polydactyly of toes - 'Preaxial polydactyly of toes' SubClassOf 'morphological anomaly' - 'Preaxial polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' + 'Preaxial polydactyly of toes' SubClassOf 'morphological anomaly' + 'Preaxial polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_2609 Label: Isolated NADH-CoQ reductase deficiency - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Isolated oxidative phosphorylation complex disorder' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'part_of' some 'Mitochondrial myopathy' - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated oxidative phosphorylation complex disorder' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurometabolic disease' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial myopathy' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_295000 Label: Constriction rings syndrome - 'Constriction rings syndrome' SubClassOf 'malformation syndrome' - 'Constriction rings syndrome' SubClassOf 'part_of' some 'Amniotic bands' + 'Constriction rings syndrome' SubClassOf 'malformation syndrome' + 'Constriction rings syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amniotic bands' Class: http://www.orpha.net/ORDO/Orphanet_2608 Label: N syndrome - 'N syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' - 'N syndrome' SubClassOf 'malformation syndrome' - 'N syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'N syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'N syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' - 'N syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'N syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'N syndrome' SubClassOf 'malformation syndrome' + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'N syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'N syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Inherited cancer-predisposing syndrome' + 'N syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'N syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'N syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_295002 Label: Hyperphalangy - 'Hyperphalangy' SubClassOf 'part_of' some 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' - 'Hyperphalangy' SubClassOf 'morphological anomaly' + 'Hyperphalangy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' + 'Hyperphalangy' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2615 Label: Nakajo-Nishimura syndrome - 'Nakajo-Nishimura syndrome' SubClassOf 'clinical subtype' - 'Nakajo-Nishimura syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Nakajo-Nishimura syndrome' SubClassOf 'part_of' some 'Proteasome disability syndrome' + 'Nakajo-Nishimura syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nakajo-Nishimura syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nakajo-Nishimura syndrome' SubClassOf 'clinical subtype' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nakajo-Nishimura syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Proteasome disability syndrome' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2614 Label: Nail-patella syndrome - 'Nail-patella syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Nail-patella syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Patellar dysostosis' - 'Nail-patella syndrome' SubClassOf 'malformation syndrome' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Nail-patella syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Nail-patella syndrome' SubClassOf 'part_of' some 'Onycho-patellar syndrome with eye involvement' + 'Nail-patella syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nail-patella syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Onycho-patellar syndrome with eye involvement' + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Patellar dysostosis' + 'Nail-patella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Nail-patella syndrome' SubClassOf 'malformation syndrome' + 'Nail-patella syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.0"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_141189 Label: Cerebrofacial arteriovenous metameric syndrome - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'group of disorders' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2613 Label: Nail-patella-like renal disease - 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nail-patella-like renal disease' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Nail-patella-like renal disease' SubClassOf 'disease' - 'Nail-patella-like renal disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Nail-patella-like renal disease' SubClassOf 'disease' + 'Nail-patella-like renal disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nail-patella-like renal disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nail-patella-like renal disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2612 Label: Linear nevus sebaceus syndrome - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' - 'Linear nevus sebaceus syndrome' SubClassOf 'disease' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Palpebral nevus' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Linear nevus sebaceus syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Rare nevus' - 'Linear nevus sebaceus syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin tumor' + 'Linear nevus sebaceus syndrome' SubClassOf 'disease' + 'Linear nevus sebaceus syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "10.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Linear nevus sebaceus syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Palpebral nevus' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bulbar conjunctival dermoid or conjunctival dermolipoma' + 'Linear nevus sebaceus syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2611 Label: Linear verrucous nevus syndrome - 'Linear verrucous nevus syndrome' SubClassOf 'disease' - 'Linear verrucous nevus syndrome' SubClassOf 'part_of' some 'Rare nevus' + 'Linear verrucous nevus syndrome' SubClassOf 'disease' + 'Linear verrucous nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_402744 Label: protein tyrosine phosphatase, non-receptor type 3 - 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'gene' - 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q31"^^http://www.w3.org/2001/XMLSchema#string + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_400605 Label: LYR motif containing 4 - 'LYR motif containing 4' SubClassOf 'gene' - 'LYR motif containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'LYR motif containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LYR motif containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' + 'LYR motif containing 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p25.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_200946 Label: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'gene' - 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antichymotrypsin deficiency' + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.1"^^http://www.w3.org/2001/XMLSchema#string + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alpha-1-antichymotrypsin deficiency' Class: http://www.orpha.net/ORDO/Orphanet_284247 Label: Familial retinal arterial macroaneurysm - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial retinal arterial macroaneurysm' SubClassOf 'malformation syndrome' - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Familial retinal arterial macroaneurysm' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Familial retinal arterial macroaneurysm' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial retinal arterial macroaneurysm' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial retinal arterial macroaneurysm' SubClassOf 'malformation syndrome' + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vitreous-retinal disease' + 'Familial retinal arterial macroaneurysm' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Familial retinal arterial macroaneurysm' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_123595 Label: myosin binding protein C, cardiac - 'myosin binding protein C, cardiac' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' - 'myosin binding protein C, cardiac' SubClassOf 'gene' - 'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' + 'myosin binding protein C, cardiac' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'myosin binding protein C, cardiac' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'myosin binding protein C, cardiac' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_319234 Label: Venezuelan hemorrhagic fever - 'Venezuelan hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Venezuelan hemorrhagic fever' SubClassOf 'disease' + 'Venezuelan hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Venezuelan hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141184 Label: Rapidly involuting congenital hemangioma - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rapidly involuting congenital hemangioma' SubClassOf 'disease' - 'Rapidly involuting congenital hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Rapidly involuting congenital hemangioma' SubClassOf 'has_inheritance' some 'sporadic' + 'Rapidly involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Rapidly involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Rapidly involuting congenital hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138711 Label: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'gene' - 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' + 'KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemihypertrophy' Class: http://www.orpha.net/ORDO/Orphanet_284227 Label: TEMPI syndrome - 'TEMPI syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'TEMPI syndrome' SubClassOf 'part_of' some 'Rare systemic disease' - 'TEMPI syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'TEMPI syndrome' SubClassOf 'clinical syndrome' + 'TEMPI syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'TEMPI syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'TEMPI syndrome' SubClassOf 'clinical syndrome' + 'TEMPI syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_319247 Label: Hantavirus pulmonary syndrome - 'Hantavirus pulmonary syndrome' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Hantavirus pulmonary syndrome' SubClassOf 'disease' + 'Hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Hantavirus pulmonary syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120908 Label: cullin 4B - 'cullin 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cabezas type' - 'cullin 4B' SubClassOf 'gene' + 'cullin 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cullin 4B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq23"^^http://www.w3.org/2001/XMLSchema#string + 'cullin 4B' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Cabezas type' Class: http://www.orpha.net/ORDO/Orphanet_77301 Label: Monosomy 9q22.3 - 'Monosomy 9q22.3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Monosomy 9q22.3' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' - 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Monosomy 9q22.3' SubClassOf 'malformation syndrome' - 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some 'sporadic' + 'Monosomy 9q22.3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Monosomy 9q22.3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Monosomy 9q22.3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Monosomy 9q22.3' SubClassOf 'malformation syndrome' + 'Monosomy 9q22.3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial monosomy of the long arm of chromosome 9' Class: http://www.orpha.net/ORDO/Orphanet_77300 Label: Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'malformation syndrome' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'malformation syndrome' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' Class: http://www.orpha.net/ORDO/Orphanet_295016 Label: Camptodactyly of fingers - 'Camptodactyly of fingers' SubClassOf 'part_of' some 'Congenital deformities of fingers' - 'Camptodactyly of fingers' SubClassOf 'morphological anomaly' + 'Camptodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of fingers' + 'Camptodactyly of fingers' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_189439 Label: Primary pigmented nodular adrenocortical disease - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'part_of' some 'Rare genetic adrenal disease' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disease' - 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Primary pigmented nodular adrenocortical disease' SubClassOf 'disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.04"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic adrenal disease' + 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_295014 Label: Familial isolated clinodactyly of fingers - 'Familial isolated clinodactyly of fingers' SubClassOf 'morphological anomaly' - 'Familial isolated clinodactyly of fingers' SubClassOf 'part_of' some 'Congenital deformities of fingers' + 'Familial isolated clinodactyly of fingers' SubClassOf 'morphological anomaly' + 'Familial isolated clinodactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital deformities of fingers' Class: http://www.orpha.net/ORDO/Orphanet_120903 Label: cubilin (intrinsic factor-cobalamin receptor) - 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' - 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'gene' + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gr�sbeck-Imerslund disease' + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p12"^^http://www.w3.org/2001/XMLSchema#string + 'cubilin (intrinsic factor-cobalamin receptor)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_254925 Label: Combined oxidative phosphorylation defect type 4 - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2616 Label: 3M syndrome - '3M syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '3M syndrome' SubClassOf 'malformation syndrome' - '3M syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - '3M syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - '3M syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - '3M syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - '3M syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '3M syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '3M syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + '3M syndrome' SubClassOf 'malformation syndrome' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with short stature' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + '3M syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + '3M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '3M syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_77304 Label: Not NOTCH3-related small vessel disease of the brain - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'disease' - 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Not NOTCH3-related small vessel disease of the brain' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307711 Label: Disease with diffuse palmoplantar keratoderma as a major feature - 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_295012 Label: Syndactyly type 6 - 'Syndactyly type 6' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 6' SubClassOf 'morphological anomaly' + 'Syndactyly type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 6' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2617 Label: Bird headed-dwarfism, Montreal type - 'Bird headed-dwarfism, Montreal type' SubClassOf 'malformation syndrome' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Bird headed-dwarfism, Montreal type' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Bird headed-dwarfism, Montreal type' SubClassOf 'malformation syndrome' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Bird headed-dwarfism, Montreal type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_77302 Label: Oculo-oto-facial dysplasia - 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Oculo-oto-facial dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculo-oto-facial dysplasia' SubClassOf 'malformation syndrome' - 'Oculo-oto-facial dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Oculo-oto-facial dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Oculo-oto-facial dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Oculo-oto-facial dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Oculo-oto-facial dysplasia' SubClassOf 'malformation syndrome' + 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Oculo-oto-facial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Oculo-oto-facial dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Oculo-oto-facial dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Oculo-oto-facial dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_295010 Label: Central polydactyly of toes - 'Central polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' - 'Central polydactyly of toes' SubClassOf 'morphological anomaly' + 'Central polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' + 'Central polydactyly of toes' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2619 Label: Brachydactylous dwarfism, Mseleni type - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'disease' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_prevalence' some 'Unknown' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'disease' + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Brachydactylous dwarfism, Mseleni type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_85112 Label: Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Syndrome with disorder of sex development of gynecological interest' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'part_of' some 'Syndrome with 46,XX disorder of sex development' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with disorder of sex development of gynecological interest' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with 46,XX disorder of sex development' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2623 Label: Geleophysic dysplasia - 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Geleophysic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Geleophysic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Geleophysic dysplasia' SubClassOf 'malformation syndrome' - 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Geleophysic dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Geleophysic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Geleophysic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Geleophysic dysplasia' SubClassOf 'malformation syndrome' + 'Geleophysic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Geleophysic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_254930 Label: Combined oxidative phosphorylation defect type 7 - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 7' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_85110 Label: Familial encephalopathy with neuroserpin inclusion bodies - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'disease' - 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Progressive myoclonic epilepsy' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'disease' + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_295008 Label: Postaxial polydactyly of toes - 'Postaxial polydactyly of toes' SubClassOf 'morphological anomaly' - 'Postaxial polydactyly of toes' SubClassOf 'part_of' some 'Polydactyly' + 'Postaxial polydactyly of toes' SubClassOf 'morphological anomaly' + 'Postaxial polydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polydactyly' Class: http://www.orpha.net/ORDO/Orphanet_141179 Label: Non-involuting congenital hemangioma - 'Non-involuting congenital hemangioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Non-involuting congenital hemangioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Non-involuting congenital hemangioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Non-involuting congenital hemangioma' SubClassOf 'disease' + 'Non-involuting congenital hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Non-involuting congenital hemangioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Non-involuting congenital hemangioma' SubClassOf 'disease' + 'Non-involuting congenital hemangioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_2621 Label: Low birth weight - dwarfism - dysgammaglobulinemia - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' - 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'malformation syndrome' + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Low birth weight - dwarfism - dysgammaglobulinemia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284232 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2O - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_138706 Label: HtrA serine peptidase 1 - 'HtrA serine peptidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CARASIL' - 'HtrA serine peptidase 1' SubClassOf 'gene' + 'HtrA serine peptidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q26.3"^^http://www.w3.org/2001/XMLSchema#string + 'HtrA serine peptidase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'CARASIL' + 'HtrA serine peptidase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141174 Label: Mandibular arteriovenous malformation - 'Mandibular arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Mandibular arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Mandibular arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Mandibular arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_319244 Label: Chapare hemorrhagic fever - 'Chapare hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Chapare hemorrhagic fever' SubClassOf 'disease' + 'Chapare hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Chapare hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_264200 Label: 14q22q23 microdeletion syndrome - '14q22q23 microdeletion syndrome' SubClassOf 'malformation syndrome' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '14q22q23 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' + '14q22q23 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 14' Class: http://www.orpha.net/ORDO/Orphanet_284237 Label: dynein, cytoplasmic 1, heavy chain 1 - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' - 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'gene' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.31"^^http://www.w3.org/2001/XMLSchema#string + 'dynein, cytoplasmic 1, heavy chain 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_141171 Label: Maxillary arteriovenous malformation - 'Maxillary arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Maxillary arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Maxillary arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Maxillary arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_138702 Label: retina and anterior neural fold homeobox 2 - 'retina and anterior neural fold homeobox 2' SubClassOf 'gene' - 'retina and anterior neural fold homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'retina and anterior neural fold homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'retina and anterior neural fold homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retina and anterior neural fold homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120910 Label: cullin 7 - 'cullin 7' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' - 'cullin 7' SubClassOf 'gene' + 'cullin 7' SubClassOf 'Disease-causing germline mutation(s) in' some '3M syndrome' + 'cullin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cullin 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_189466 Label: Familial isolated hypoparathyroidism due to impaired PTH secretion - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'part_of' some 'Familial isolated hypoparathyroidism' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'clinical subtype' - 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial isolated hypoparathyroidism' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'clinical subtype' + 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_118218 Label: recombination activating gene 2 - 'recombination activating gene 2' SubClassOf 'gene' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' - 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' + 'recombination activating gene 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' + 'recombination activating gene 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'recombination activating gene 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120914 Label: chemokine (C-X-C motif) receptor 4 - 'chemokine (C-X-C motif) receptor 4' SubClassOf 'gene' - 'chemokine (C-X-C motif) receptor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'WHIM syndrome' + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q21"^^http://www.w3.org/2001/XMLSchema#string + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'WHIM syndrome' + 'chemokine (C-X-C motif) receptor 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319218 Label: Ebola hemorrhagic fever - 'Ebola hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Ebola hemorrhagic fever' SubClassOf 'disease' + 'Ebola hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Ebola hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118215 Label: recombination activating gene 1 - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' - 'recombination activating gene 1' SubClassOf 'gene' - 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' + 'recombination activating gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p13"^^http://www.w3.org/2001/XMLSchema#string + 'recombination activating gene 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency with skin granulomas' + 'recombination activating gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' Class: http://www.orpha.net/ORDO/Orphanet_273977 Label: ankyrin repeat domain 11 - 'ankyrin repeat domain 11' SubClassOf 'gene' - 'ankyrin repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'KBG syndrome' - 'ankyrin repeat domain 11' SubClassOf 'Role in the phenotype of' some '16q24.3 microdeletion syndrome' + 'ankyrin repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ankyrin repeat domain 11' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'ankyrin repeat domain 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'KBG syndrome' + 'ankyrin repeat domain 11' SubClassOf 'Role in the phenotype of' some '16q24.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319213 Label: Lujo hemorrhagic fever - 'Lujo hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Lujo hemorrhagic fever' SubClassOf 'disease' + 'Lujo hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Lujo hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1067 Label: Aniridia - ptosis - intellectual disability - familial obesity - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'malformation syndrome' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'malformation syndrome' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123574 Label: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase - '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'gene' - '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblE' + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p15.31"^^http://www.w3.org/2001/XMLSchema#string + '5-methyltetrahydrofolate-homocysteine methyltransferase reductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblE' Class: http://www.orpha.net/ORDO/Orphanet_1065 Label: Aniridia - cerebellar ataxia - intellectual disability - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'malformation syndrome' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare disease with glaucoma as a major feature' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'malformation syndrome' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare disease with glaucoma as a major feature' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' Class: http://www.orpha.net/ORDO/Orphanet_141163 Label: Glossopalatine ankylosis - 'Glossopalatine ankylosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Glossopalatine ankylosis' SubClassOf 'part_of' some 'Oromandibular-limb hypogenesis syndrome' - 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Glossopalatine ankylosis' SubClassOf 'malformation syndrome' - 'Glossopalatine ankylosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Glossopalatine ankylosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Glossopalatine ankylosis' SubClassOf 'malformation syndrome' + 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Glossopalatine ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Glossopalatine ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oromandibular-limb hypogenesis syndrome' + 'Glossopalatine ankylosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_123572 Label: 5-methyltetrahydrofolate-homocysteine methyltransferase - '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblG' - '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'gene' + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q43"^^http://www.w3.org/2001/XMLSchema#string + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylcobalamin deficiency type cblG' + '5-methyltetrahydrofolate-homocysteine methyltransferase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1064 Label: Aniridia - renal agenesis - psychomotor retardation - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1063 Label: Tufted angioma - 'Tufted angioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Tufted angioma' SubClassOf 'part_of' some 'Vascular tumor' - 'Tufted angioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Tufted angioma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Tufted angioma' SubClassOf 'disease' - 'Tufted angioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Tufted angioma' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic vascular anomaly' + 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Vascular tumor' + 'Tufted angioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Tufted angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Tufted angioma' SubClassOf 'disease' + 'Tufted angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_85184 Label: Craniometadiaphyseal dysplasia, wormian bone type - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'malformation syndrome' - 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'malformation syndrome' + 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_1062 Label: Hereditary neurocutaneous angioma - 'Hereditary neurocutaneous angioma' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Hereditary neurocutaneous angioma' SubClassOf 'disease' - 'Hereditary neurocutaneous angioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hereditary neurocutaneous angioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Cerebral diseases of vascular origin with epilepsy' - 'Hereditary neurocutaneous angioma' SubClassOf 'part_of' some 'Genetic neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral diseases of vascular origin with epilepsy' + 'Hereditary neurocutaneous angioma' SubClassOf 'disease' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with hamartosis' + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Neurovascular malformation' + 'Hereditary neurocutaneous angioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Hereditary neurocutaneous angioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85182 Label: Diaphyseal medullary stenosis - bone malignancy - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Rare bone tumor' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'part_of' some 'Genetic bone tumor' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'disease' - 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic bone tumor' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bone tumor' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141168 Label: Frontonasal arteriovenous malformation - 'Frontonasal arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Frontonasal arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Frontonasal arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Frontonasal arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Facial arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2632 Label: Langer mesomelic dysplasia - 'Langer mesomelic dysplasia' SubClassOf 'malformation syndrome' - 'Langer mesomelic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Langer mesomelic dysplasia' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Langer mesomelic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Langer mesomelic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Langer mesomelic dysplasia' SubClassOf 'malformation syndrome' + 'Langer mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Langer mesomelic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Langer mesomelic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85188 Label: Metaphyseal dysplasia, Braun-Tinschert type - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'malformation syndrome' - 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_prevalence' some 'Unknown' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'malformation syndrome' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2633 Label: Mesomelic dwarfism, Nievergelt type - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'malformation syndrome' + 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85186 Label: Endosteal sclerosis - cerebellar hypoplasia - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'malformation syndrome' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'malformation syndrome' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_2631 Label: Mesomelic dwarfism - cleft palate - camptodactyly - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2636 Label: Microcephalic osteodysplastic primordial dwarfism types I and III - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'malformation syndrome' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'malformation syndrome' + 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_138732 Label: X-linked inhibitor of apoptosis - 'X-linked inhibitor of apoptosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' - 'X-linked inhibitor of apoptosis' SubClassOf 'gene' + 'X-linked inhibitor of apoptosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'X-linked inhibitor of apoptosis' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked lymphoproliferative disease' + 'X-linked inhibitor of apoptosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq25"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2637 Label: Microcephalic osteodysplastic primordial dwarfism type II - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'malformation syndrome' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'part_of' some 'Syndromic obesity' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_prevalence' some 'Unknown' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'malformation syndrome' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_1069 Label: Aniridia - absent patella - 'Aniridia - absent patella' SubClassOf 'malformation syndrome' - 'Aniridia - absent patella' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Aniridia - absent patella' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia - absent patella' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia - absent patella' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia - absent patella' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia - absent patella' SubClassOf 'malformation syndrome' + 'Aniridia - absent patella' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia - absent patella' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Aniridia - absent patella' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Aniridia - absent patella' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2634 Label: Mesomelic dwarfism, Reinhardt-Pfeiffer type - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'malformation syndrome' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_prevalence' some 'Unknown' - 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'malformation syndrome' + 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_123576 Label: microsomal triglyceride transfer protein - 'microsomal triglyceride transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abetalipoproteinemia' - 'microsomal triglyceride transfer protein' SubClassOf 'gene' + 'microsomal triglyceride transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string + 'microsomal triglyceride transfer protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Abetalipoproteinemia' + 'microsomal triglyceride transfer protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1068 Label: Aniridia-intellectual disability syndrome - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic aniridia' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aniridia-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Aniridia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' + 'Aniridia-intellectual disability syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Aniridia-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic aniridia' + 'Aniridia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Aniridia-intellectual disability syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2635 Label: Metatropic dysplasia - 'Metatropic dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Metatropic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Metatropic dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Metatropic dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' - 'Metatropic dysplasia' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Metatropic dysplasia' SubClassOf 'disease' - 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Metatropic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Metatropic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Metatropic dysplasia' SubClassOf 'disease' + 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Metatropic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Metatropic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_2639 Label: Fibular aplasia - complex brachydactyly - 'Fibular aplasia - complex brachydactyly' SubClassOf 'malformation syndrome' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Acromesomelic dysplasia' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Fibular aplasia - complex brachydactyly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromesomelic dysplasia' + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Fibular aplasia - complex brachydactyly' SubClassOf 'malformation syndrome' + 'Fibular aplasia - complex brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Fibular aplasia - complex brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' Class: http://www.orpha.net/ORDO/Orphanet_118208 Label: RAD51 recombinase - 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' - 'RAD51 recombinase' SubClassOf 'gene' - 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' + 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary breast and ovarian cancer syndrome' + 'RAD51 recombinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q15.1"^^http://www.w3.org/2001/XMLSchema#string + 'RAD51 recombinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAD51 recombinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements' Class: http://www.orpha.net/ORDO/Orphanet_118205 Label: RAB7A, member RAS oncogene family - 'RAB7A, member RAS oncogene family' SubClassOf 'gene' - 'RAB7A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' + 'RAB7A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB7A, member RAS oncogene family' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q21"^^http://www.w3.org/2001/XMLSchema#string + 'RAB7A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' Class: http://www.orpha.net/ORDO/Orphanet_138719 Label: cytochrome b-245, alpha polypeptide - 'cytochrome b-245, alpha polypeptide' SubClassOf 'gene' - 'cytochrome b-245, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome b-245, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, alpha polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_319229 Label: Bolivian hemorrhagic fever - 'Bolivian hemorrhagic fever' SubClassOf 'disease' - 'Bolivian hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' + 'Bolivian hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Bolivian hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120929 Label: cytochrome b5 type A (microsomal) - 'cytochrome b5 type A (microsomal)' SubClassOf 'gene' - 'cytochrome b5 type A (microsomal)' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'cytochrome b5 type A (microsomal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b5 type A (microsomal)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18q23"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome b5 type A (microsomal)' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1070 Label: Anisakiasis - 'Anisakiasis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Anisakiasis' SubClassOf 'has_prevalence' some 'Unknown' - 'Anisakiasis' SubClassOf 'disease' + 'Anisakiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Anisakiasis' SubClassOf 'disease' + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Anisakiasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Anisakiasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.32"^^http://www.w3.org/2001/XMLSchema#string) + 'Anisakiasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409949 Class: http://www.orpha.net/ORDO/Orphanet_118200 Label: RAB3 GTPase activating protein subunit 2 (non-catalytic) - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Micro syndrome' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'gene' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 69' - 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Cataract - intellectual disability - hypogonadism' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 69' + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q41"^^http://www.w3.org/2001/XMLSchema#string + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Micro syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138722 Label: Raf-1 proto-oncogene, serine/threonine kinase - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'gene' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Part of a fusion gene in' some 'Pilocytic astrocytoma' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'LEOPARD syndrome' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3p25"^^http://www.w3.org/2001/XMLSchema#string + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Noonan syndrome' + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_319223 Label: Argentine hemorrhagic fever - 'Argentine hemorrhagic fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' - 'Argentine hemorrhagic fever' SubClassOf 'disease' + 'Argentine hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Viral hemorrhagic fever' + 'Argentine hemorrhagic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_141152 Label: Isolated congenital hypoglossia/aglossia - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'part_of' some 'Hypoglossia/aglossia' - 'Isolated congenital hypoglossia/aglossia' SubClassOf 'morphological anomaly' + 'Isolated congenital hypoglossia/aglossia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypoglossia/aglossia' + 'Isolated congenital hypoglossia/aglossia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_123583 Label: methylmalonyl CoA mutase - 'methylmalonyl CoA mutase' SubClassOf 'gene' - 'methylmalonyl CoA mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' - 'methylmalonyl CoA mutase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21"^^http://www.w3.org/2001/XMLSchema#string + 'methylmalonyl CoA mutase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' Class: http://www.orpha.net/ORDO/Orphanet_1078 Label: Thumb stiffness - brachydactyly - intellectual disability - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'malformation syndrome' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'malformation syndrome' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123585 Label: mutY homolog - 'mutY homolog' SubClassOf 'gene' - 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'MUTYH-related attenuated familial adenomatous polyposis' - 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'mutY homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p34.1"^^http://www.w3.org/2001/XMLSchema#string + 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'MUTYH-related attenuated familial adenomatous polyposis' + 'mutY homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial gastric cancer' + 'mutY homolog' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_1077 Label: Dental ankylosis - 'Dental ankylosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dental ankylosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Dental ankylosis' SubClassOf 'malformation syndrome' - 'Dental ankylosis' SubClassOf 'part_of' some 'Rare odontal or periodontal disorder' + 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare odontal or periodontal disorder' + 'Dental ankylosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dental ankylosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85170 Label: Mesomelic dysplasia, Savarirayan type - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_inheritance' some 'sporadic' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_prevalence' some 'Unknown' - 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'malformation syndrome' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mesomelic and rhizo-mesomelic dysplasia' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'malformation syndrome' + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_1072 Label: Ankyloblepharon filiforme adnatum - cleft palate - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'malformation syndrome' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1071 Label: Ankyloblepharon - ectodermal defects - cleft lip/palate - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_prevalence' some 'Unknown' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb reduction defects' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with limb reduction defects' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85172 Label: Microcephalic osteodysplastic dysplasia, Saul-Wilson type - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'disease' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'disease' + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_1074 Label: Ankyloblepharon filiforme - imperforate anus - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'part_of' some 'Syndromic ankyloblepharon' - 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome or malformation associated with head and neck malformations' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic ankyloblepharon' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'malformation syndrome' + 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_85173 Label: IMAGe syndrome - 'IMAGe syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'IMAGe syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'IMAGe syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'IMAGe syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'IMAGe syndrome' SubClassOf 'malformation syndrome' - 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'IMAGe syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'IMAGe syndrome' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Slender bone dysplasia' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' + 'IMAGe syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic chronic primary adrenal insufficiency' + 'IMAGe syndrome' SubClassOf 'malformation syndrome' + 'IMAGe syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'IMAGe syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'IMAGe syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'IMAGe syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85174 Label: Pseudodiastrophic dysplasia - 'Pseudodiastrophic dysplasia' SubClassOf 'malformation syndrome' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pseudodiastrophic dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Pseudodiastrophic dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' - 'Pseudodiastrophic dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with multiple joint dislocations' + 'Pseudodiastrophic dysplasia' SubClassOf 'malformation syndrome' + 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pseudodiastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Pseudodiastrophic dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Pseudodiastrophic dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pseudodiastrophic dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2641 Label: Micromelic dwarfism, Fryns type - 'Micromelic dwarfism, Fryns type' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Micromelic dwarfism, Fryns type' SubClassOf 'disease' + 'Micromelic dwarfism, Fryns type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Micromelic dwarfism, Fryns type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85175 Label: Astley-Kendall dysplasia - 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Astley-Kendall dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Astley-Kendall dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Astley-Kendall dysplasia' SubClassOf 'malformation syndrome' - 'Astley-Kendall dysplasia' SubClassOf 'part_of' some 'Chondrodysplasia punctata' + 'Astley-Kendall dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Astley-Kendall dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Astley-Kendall dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chondrodysplasia punctata' + 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Astley-Kendall dysplasia' SubClassOf 'malformation syndrome' + 'Astley-Kendall dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_2643 Label: Microcephalic primordial dwarfism, Toriello type - 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' - 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'malformation syndrome' + 'Microcephalic primordial dwarfism, Toriello type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_2645 Label: Osteoglophonic dwarfism - 'Osteoglophonic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteoglophonic dwarfism' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Osteoglophonic dwarfism' SubClassOf 'malformation syndrome' + 'Osteoglophonic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteoglophonic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Osteoglophonic dwarfism' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85179 Label: Infantile osteopetrosis with neuroaxonal dysplasia - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'malformation syndrome' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'part_of' some 'Osteopetrosis' + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'malformation syndrome' + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_2646 Label: Parastremmatic dwarfism - 'Parastremmatic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'Bent bone dysplasia' - 'Parastremmatic dwarfism' SubClassOf 'malformation syndrome' - 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Parastremmatic dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'TRPV4-related bone disorder' + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Parastremmatic dwarfism' SubClassOf 'malformation syndrome' + 'Parastremmatic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Parastremmatic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Bent bone dysplasia' + 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Parastremmatic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_123588 Label: mevalonate kinase - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Disseminated superficial actinic porokeratosis' - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mevalonic aciduria' - 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperimmunoglobulinemia D with periodic fever' - 'mevalonate kinase' SubClassOf 'gene' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Disseminated superficial actinic porokeratosis' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mevalonic aciduria' + 'mevalonate kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperimmunoglobulinemia D with periodic fever' + 'mevalonate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24"^^http://www.w3.org/2001/XMLSchema#string + 'mevalonate kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120932 Label: cytochrome b5 reductase 3 - 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 2' - 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 1' - 'cytochrome b5 reductase 3' SubClassOf 'gene' + 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 2' + 'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Recessive hereditary methemoglobinemia type 1' + 'cytochrome b5 reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b5 reductase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120935 Label: cytochrome b-245, beta polypeptide - 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' - 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' - 'cytochrome b-245, beta polypeptide' SubClassOf 'gene' + 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chronic granulomatous disease' + 'cytochrome b-245, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' + 'cytochrome b-245, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome b-245, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2649 Label: Short stature - intellectual disability - eye anomalies - cleft lip/palate - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'malformation syndrome' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409932 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314017 Label: Idiopathic linear interstitial keratitis - 'Idiopathic linear interstitial keratitis' SubClassOf 'disease' - 'Idiopathic linear interstitial keratitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic linear interstitial keratitis' SubClassOf 'part_of' some 'Rare acquired eye disease' + 'Idiopathic linear interstitial keratitis' SubClassOf 'disease' + 'Idiopathic linear interstitial keratitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare acquired eye disease' + 'Idiopathic linear interstitial keratitis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_1081 Label: Coronary artery congenital malformation - 'Coronary artery congenital malformation' SubClassOf 'group of disorders' + 'Coronary artery congenital malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_118239 Label: retinoblastoma 1 - 'retinoblastoma 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Unilateral retinoblastoma' - 'retinoblastoma 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 13q14' - 'retinoblastoma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial retinoblastoma' - 'retinoblastoma 1' SubClassOf 'gene' + 'retinoblastoma 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Unilateral retinoblastoma' + 'retinoblastoma 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 13q14' + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q14.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoblastoma 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Familial retinoblastoma' Class: http://www.orpha.net/ORDO/Orphanet_2650 Label: Dwarfism - intellectual disability - eye abnormality - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'malformation syndrome' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'malformation syndrome' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85162 Label: Facial onset sensory and motor neuronopathy - 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Facial onset sensory and motor neuronopathy' SubClassOf 'disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurodegenerative disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Facial onset sensory and motor neuronopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Facial onset sensory and motor neuronopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic neurodegenerative disease' + 'Facial onset sensory and motor neuronopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1084 Label: Isolated lissencephaly type 1 without known genetic defects - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'part_of' some 'Classic lissencephaly' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_prevalence' some 'Unknown' - 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'disease' + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Classic lissencephaly' + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1083 Label: Microlissencephaly - 'Microlissencephaly' SubClassOf 'group of disorders' - 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Microlissencephaly' SubClassOf 'has_prevalence' some 'Unknown' - 'Microlissencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Microlissencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Microlissencephaly' SubClassOf 'group of disorders' + 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Microlissencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_49382 Label: Achromatopsia - 'Achromatopsia' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Achromatopsia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Achromatopsia' SubClassOf 'part_of' some 'Color-vision disease' - 'Achromatopsia' SubClassOf 'part_of' some 'Syndromic myopia' - 'Achromatopsia' SubClassOf 'disease' + 'Achromatopsia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "2.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Color-vision disease' + 'Achromatopsia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Achromatopsia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic myopia' + 'Achromatopsia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Achromatopsia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123552 Label: mitochondrially encoded NADH dehydrogenase 4 - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' Class: http://www.orpha.net/ORDO/Orphanet_1088 Label: Short stature-heart defect-craniofacial anomalies syndrome - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'malformation syndrome' - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118231 Label: RAS p21 protein activator (GTPase activating protein) 1 - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'gene' - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Capillary malformation - arteriovenous malformation' - 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkes Weber syndrome' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Capillary malformation - arteriovenous malformation' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parkes Weber syndrome' + 'RAS p21 protein activator (GTPase activating protein) 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85169 Label: Familial digital arthropathy-brachydactyly - 'Familial digital arthropathy-brachydactyly' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'part_of' some 'Syndrome with brachydactyly' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial digital arthropathy-brachydactyly' SubClassOf 'malformation syndrome' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'TRPV4-related bone disorder' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial digital arthropathy-brachydactyly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with brachydactyly' + 'Familial digital arthropathy-brachydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120940 Label: cylindromatosis (turban tumor syndrome) - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cylindromatosis' - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'gene' - 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple trichoepithelioma' + 'cylindromatosis (turban tumor syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cylindromatosis (turban tumor syndrome)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q12-q13"^^http://www.w3.org/2001/XMLSchema#string + 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial cylindromatosis' + 'cylindromatosis (turban tumor syndrome)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial multiple trichoepithelioma' Class: http://www.orpha.net/ORDO/Orphanet_2658 Label: Lenz-Majewski hyperostotic dwarfism - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'malformation syndrome' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with increased bone density' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'malformation syndrome' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_85167 Label: Spondylometaphyseal dysplasia - cone-rod dystrophy - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'disease' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_85168 Label: Craniofacial conodysplasia - 'Craniofacial conodysplasia' SubClassOf 'has_AgeOfOnset' some 'No data available' - 'Craniofacial conodysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Craniofacial conodysplasia' SubClassOf 'malformation syndrome' - 'Craniofacial conodysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial conodysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Craniofacial conodysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Craniofacial conodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniofacial conodysplasia' SubClassOf 'malformation syndrome' + 'Craniofacial conodysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_141145 Label: Hemifacial hypertrophy - 'Hemifacial hypertrophy' SubClassOf 'malformation syndrome' - 'Hemifacial hypertrophy' SubClassOf 'part_of' some 'Macroglossia' + 'Hemifacial hypertrophy' SubClassOf 'malformation syndrome' + 'Hemifacial hypertrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' Class: http://www.orpha.net/ORDO/Orphanet_85165 Label: Severe achondroplasia - developmental delay - acanthosis nigricans - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Other genetic epidermal disease' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'disease' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' - 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'disease' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other genetic epidermal disease' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other epidermal disorder' + 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85166 Label: Platyspondylic dysplasia, Torrance type - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'malformation syndrome' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_prevalence' some 'Unknown' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Type 2 collagen-related bone disorder' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'malformation syndrome' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_2655 Label: Thanatophoric dysplasia - 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some 'sporadic' - 'Thanatophoric dysplasia' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Thanatophoric dysplasia' SubClassOf 'disease' - 'Thanatophoric dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Thanatophoric dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with micromelia' + 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Thanatophoric dysplasia' SubClassOf 'disease' + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "2.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Thanatophoric dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410097) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410100) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409943 + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "3.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with micromelia' + 'Thanatophoric dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409987) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "4.7"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85163 Label: Hypomyelination - congenital cataract - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Syndromic cataract' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Leukodystrophy' - 'Hypomyelination - congenital cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Hypomyelination - congenital cataract' SubClassOf 'malformation syndrome' - 'Hypomyelination - congenital cataract' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hypomyelination - congenital cataract' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Hypomyelination - congenital cataract' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hypomyelination - congenital cataract' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Hypomyelination - congenital cataract' SubClassOf 'malformation syndrome' + 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hypomyelination - congenital cataract' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_141148 Label: Hemifacial myohyperplasia - 'Hemifacial myohyperplasia' SubClassOf 'malformation syndrome' - 'Hemifacial myohyperplasia' SubClassOf 'part_of' some 'Macroglossia' + 'Hemifacial myohyperplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Macroglossia' + 'Hemifacial myohyperplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123557 Label: mitochondrially encoded NADH dehydrogenase 4L - 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 4L' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85164 Label: Camptodactyly - tall stature - scoliosis - hearing loss - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'part_of' some 'FGFR3-related chondrodysplasia' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'disease' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'FGFR3-related chondrodysplasia' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2653 Label: Osteochondrodysplatic nanism - deafness - retinitis pigmentosa - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'malformation syndrome' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic retinitis pigmentosa' - 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic retinitis pigmentosa' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'malformation syndrome' + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_120949 Label: cytochrome P450, family 11, subfamily B, polypeptide 1 - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120945 Label: cytochrome P450, family 11, subfamily A, polypeptide 1 - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q23-q24"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 11, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_270336 Label: PR domain containing 5 - 'PR domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' - 'PR domain containing 5' SubClassOf 'gene' + 'PR domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PR domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brittle cornea syndrome' + 'PR domain containing 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q25-q26"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_319205 Label: Bilateral massive adrenal hemorrhage - 'Bilateral massive adrenal hemorrhage' SubClassOf 'part_of' some 'Acute adrenal insufficiency' - 'Bilateral massive adrenal hemorrhage' SubClassOf 'etiological subtype' + 'Bilateral massive adrenal hemorrhage' SubClassOf 'etiological subtype' + 'Bilateral massive adrenal hemorrhage' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_118222 Label: receptor-associated protein of the synapse - 'receptor-associated protein of the synapse' SubClassOf 'gene' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fetal akinesia deformation sequence' + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal multiple pterygium syndrome' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'receptor-associated protein of the synapse' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_118227 Label: retinoic acid receptor, alpha - 'retinoic acid receptor, alpha' SubClassOf 'gene' - 'retinoic acid receptor, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' + 'retinoic acid receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoic acid receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.1"^^http://www.w3.org/2001/XMLSchema#string + 'retinoic acid receptor, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_314002 Label: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'malformation syndrome' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'malformation syndrome' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_1092 Label: Renal-genital-middle ear anomalies - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Renal-genital-middle ear anomalies' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Renal-genital-middle ear anomalies' SubClassOf 'malformation syndrome' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Renal-genital-middle ear anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1094 Label: Anonychia - microcephaly - 'Anonychia - microcephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Anonychia - microcephaly' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anonychia - microcephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anonychia - microcephaly' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Anonychia - microcephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anonychia - microcephaly' SubClassOf 'malformation syndrome' + 'Anonychia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anonychia - microcephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anonychia - microcephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Anonychia - microcephaly' SubClassOf 'malformation syndrome' + 'Anonychia - microcephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Anonychia - microcephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_217720 Label: Non-familial restrictive cardiomyopathy - 'Non-familial restrictive cardiomyopathy' SubClassOf 'group of disorders' + 'Non-familial restrictive cardiomyopathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2662 Label: Keipert syndrome - 'Keipert syndrome' SubClassOf 'malformation syndrome' - 'Keipert syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Keipert syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Keipert syndrome' SubClassOf 'malformation syndrome' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Keipert syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_118220 Label: retinoic acid induced 1 - 'retinoic acid induced 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Magenis syndrome' - 'retinoic acid induced 1' SubClassOf 'gene' - 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some 'Smith-Magenis syndrome' - 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some '17p11.2 microduplication syndrome' + 'retinoic acid induced 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Smith-Magenis syndrome' + 'retinoic acid induced 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'retinoic acid induced 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some 'Smith-Magenis syndrome' + 'retinoic acid induced 1' SubClassOf 'Role in the phenotype of' some '17p11.2 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123562 Label: mitochondrially encoded NADH dehydrogenase 5 - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2668 Label: Nephropathy-deafness-hyperparathyroidism syndrome - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'malformation syndrome' - 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'malformation syndrome' + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_138742 Label: RNA component of mitochondrial RNA processing endoribonuclease - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cartilage-hair hypoplasia' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'gene' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' - 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cartilage-hair hypoplasia' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21-p12"^^http://www.w3.org/2001/XMLSchema#string + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' + 'RNA component of mitochondrial RNA processing endoribonuclease' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2669 Label: Nephrosis - deafness - urinary tract - digital malformations - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'malformation syndrome' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'malformation syndrome' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_141132 Label: Oculo-auriculo-vertebral spectrum - 'Oculo-auriculo-vertebral spectrum' SubClassOf 'group of disorders' + 'Oculo-auriculo-vertebral spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123567 Label: mitochondrially encoded NADH dehydrogenase 6 - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2663 Label: Nathalie syndrome - 'Nathalie syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Nathalie syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Nathalie syndrome' SubClassOf 'malformation syndrome' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Nathalie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic cataract' + 'Nathalie syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141136 Label: Hemifacial microsomia - 'Hemifacial microsomia' SubClassOf 'malformation syndrome' - 'Hemifacial microsomia' SubClassOf 'part_of' some 'Oculo-auriculo-vertebral spectrum' + 'Hemifacial microsomia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Oculo-auriculo-vertebral spectrum' + 'Hemifacial microsomia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2666 Label: Adult familial nephronophthisis - spastic quadriparesia - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'disease' + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2674 Label: Cyprus facial-neuromusculoskeletal syndrome - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'malformation syndrome' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'malformation syndrome' + 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_84096 Label: Unknown leukodystrophy - 'Unknown leukodystrophy' SubClassOf 'part_of' some 'Leukodystrophy' - 'Unknown leukodystrophy' SubClassOf 'disease' + 'Unknown leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Leukodystrophy' + 'Unknown leukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2677 Label: Neuroepithelioma - 'Neuroepithelioma' SubClassOf 'has_prevalence' some 'Unknown' - 'Neuroepithelioma' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' - 'Neuroepithelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Neuroepithelioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neuroepithelioma' SubClassOf 'disease' + 'Neuroepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Neuroepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Embryonal tumor of the neuroepithelial tissue' + 'Neuroepithelioma' SubClassOf 'disease' + 'Neuroepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123537 Label: mitochondrially encoded NADH dehydrogenase 1 - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'gene' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2676 Label: Neuroectodermal-endocrine syndrome - 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neuroectodermal-endocrine syndrome' SubClassOf 'malformation syndrome' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic polyendocrinopathy' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Neuroectodermal-endocrine syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neuroectodermal-endocrine syndrome' SubClassOf 'malformation syndrome' + 'Neuroectodermal-endocrine syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Polyendocrinopathy' Class: http://www.orpha.net/ORDO/Orphanet_120963 Label: cytochrome P450, family 17, subfamily A, polypeptide 1 - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' - 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 17, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2679 Label: Infantile axonal neuropathy - 'Infantile axonal neuropathy' SubClassOf 'disease' - 'Infantile axonal neuropathy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Infantile axonal neuropathy' SubClassOf 'disease' + 'Infantile axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_123531 Label: myotubularin 1 - 'myotubularin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked centronuclear myopathy' - 'myotubularin 1' SubClassOf 'gene' + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'X-linked centronuclear myopathy' + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myotubularin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.3-q28"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2678 Label: Neurofibromatosis type 6 - 'Neurofibromatosis type 6' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Neurofibromatosis type 6' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Neurofibromatosis type 6' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Neurofibromatosis type 6' SubClassOf 'malformation syndrome' - 'Neurofibromatosis type 6' SubClassOf 'has_prevalence' some 'Unknown' - 'Neurofibromatosis type 6' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis type 6' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Neurofibromatosis type 6' SubClassOf 'malformation syndrome' + 'Neurofibromatosis type 6' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_123533 Label: myotubularin related protein 2 - 'myotubularin related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B1' - 'myotubularin related protein 2' SubClassOf 'gene' + 'myotubularin related protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4B1' + 'myotubularin related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myotubularin related protein 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_84090 Label: Fibronectin glomerulopathy - 'Fibronectin glomerulopathy' SubClassOf 'disease' - 'Fibronectin glomerulopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fibronectin glomerulopathy' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Fibronectin glomerulopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Fibronectin glomerulopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Fibronectin glomerulopathy' SubClassOf 'disease' + 'Fibronectin glomerulopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Fibronectin glomerulopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Fibronectin glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Fibronectin glomerulopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_140074 Label: ring finger protein 135 - 'ring finger protein 135' SubClassOf 'gene' - 'ring finger protein 135' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overgrowth - macrocephaly - facial dysmorphism' + 'ring finger protein 135' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ring finger protein 135' SubClassOf 'Disease-causing germline mutation(s) in' some 'Overgrowth - macrocephaly - facial dysmorphism' + 'ring finger protein 135' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_2671 Label: Neu-Laxova syndrome - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologics signs' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Neu-Laxova syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Neu-Laxova syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neu-Laxova syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neu-Laxova syndrome' SubClassOf 'malformation syndrome' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neu-Laxova syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lissencephaly type 3' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Neu-Laxova syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Neu-Laxova syndrome' SubClassOf 'malformation syndrome' + 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with prominent neurologics signs' + 'Neu-Laxova syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2670 Label: Pierson syndrome - 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Pierson syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pierson syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Pierson syndrome' SubClassOf 'malformation syndrome' - 'Pierson syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pierson syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pierson syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' + 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Pierson syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Pierson syndrome' SubClassOf 'malformation syndrome' + 'Pierson syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_2673 Label: Neurofaciodigitorenal syndrome - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neurofaciodigitorenal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Neurofaciodigitorenal syndrome' SubClassOf 'malformation syndrome' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Neurofaciodigitorenal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93420 Label: FGFR3-related chondrodysplasia - 'FGFR3-related chondrodysplasia' SubClassOf 'group of disorders' + 'FGFR3-related chondrodysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "8.1"^^http://www.w3.org/2001/XMLSchema#string) + 'FGFR3-related chondrodysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_84093 Label: Hereditary thermosensitive neuropathy - 'Hereditary thermosensitive neuropathy' SubClassOf 'part_of' some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' - 'Hereditary thermosensitive neuropathy' SubClassOf 'disease' + 'Hereditary thermosensitive neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' + 'Hereditary thermosensitive neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_262968 Label: Partial duplication of the long arm of chromosome 17 - 'Partial duplication of the long arm of chromosome 17' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 17' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_176228 Label: isocitrate dehydrogenase 3 (NAD+) beta - 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'gene' - 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "20p13"^^http://www.w3.org/2001/XMLSchema#string + 'isocitrate dehydrogenase 3 (NAD+) beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_93419 Label: Rare bone disease - 'Rare bone disease' SubClassOf 'group of disorders' + 'Rare bone disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_120955 Label: cytochrome P450, family 11, subfamily B, polypeptide 2 - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperreninemic hypoaldosteronism type 1' - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperreninemic hypoaldosteronism type 1' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type I' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_213531 Label: Metaplastic carcinoma of the breast - 'Metaplastic carcinoma of the breast' SubClassOf 'disease' - 'Metaplastic carcinoma of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' + 'Metaplastic carcinoma of the breast' SubClassOf 'disease' + 'Metaplastic carcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_123529 Label: methylenetetrahydrofolate reductase (NAD(P)H) - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Methotrexate poisoning' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'gene' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' - 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Total spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Upper thoracic spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Isolated anencephaly/exencephaly' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Lumbosacral spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Methotrexate poisoning' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36.3"^^http://www.w3.org/2001/XMLSchema#string + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Thoracolumbosacral spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida cystica' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervicothoracic spina bifida aperta' + 'methylenetetrahydrofolate reductase (NAD(P)H)' SubClassOf 'Major susceptibility factor in' some 'Cervical spina bifida cystica' Class: http://www.orpha.net/ORDO/Orphanet_84085 Label: Hinman syndrome - 'Hinman syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hinman syndrome' SubClassOf 'disease' - 'Hinman syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Hinman syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Hinman syndrome' SubClassOf 'disease' + 'Hinman syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare urogenital disease' + 'Hinman syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_2688 Label: Adult idiopathic neutropenia - 'Adult idiopathic neutropenia' SubClassOf 'disease' - 'Adult idiopathic neutropenia' SubClassOf 'part_of' some 'Acquired neutropenia' + 'Adult idiopathic neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired neutropenia' + 'Adult idiopathic neutropenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_84087 Label: Collagen type III glomerulopathy - 'Collagen type III glomerulopathy' SubClassOf 'disease' - 'Collagen type III glomerulopathy' SubClassOf 'part_of' some 'Secondary glomerular disease' + 'Collagen type III glomerulopathy' SubClassOf 'disease' + 'Collagen type III glomerulopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_123547 Label: mitochondrially encoded NADH dehydrogenase 3 - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'gene' - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber plus disease' + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2686 Label: Cyclic neutropenia - 'Cyclic neutropenia' SubClassOf 'disease' - 'Cyclic neutropenia' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cyclic neutropenia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cyclic neutropenia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Cyclic neutropenia' SubClassOf 'part_of' some 'Constitutional neutropenia' + 'Cyclic neutropenia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cyclic neutropenia' SubClassOf 'disease' + 'Cyclic neutropenia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cyclic neutropenia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Cyclic neutropenia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_140069 Label: mitochondrial ribosomal protein S22 - 'mitochondrial ribosomal protein S22' SubClassOf 'gene' - 'mitochondrial ribosomal protein S22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia with lactic acidemia and hyperammonemia' + 'mitochondrial ribosomal protein S22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia with lactic acidemia and hyperammonemia' + 'mitochondrial ribosomal protein S22' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrial ribosomal protein S22' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140067 Label: dynactin 1 - 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perry syndrome' - 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' - 'dynactin 1' SubClassOf 'gene' - 'dynactin 1' SubClassOf 'Candidate gene tested in' some 'Amyotrophic lateral sclerosis' + 'dynactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Perry syndrome' + 'dynactin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 7' + 'dynactin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p13"^^http://www.w3.org/2001/XMLSchema#string + 'dynactin 1' SubClassOf 'Candidate gene tested in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_160337 Label: solute carrier family 26 (anion exchanger), member 5 - 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'gene' - 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7q22"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_123542 Label: mitochondrially encoded NADH dehydrogenase 2 - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' - 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'gene' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated NADH-CoQ reductase deficiency' + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded NADH dehydrogenase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_2680 Label: Hypomyelination neuropathy - arthrogryposis - 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'malformation syndrome' + 'Hypomyelination neuropathy - arthrogryposis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84081 Label: Senior-Boichis syndrome - 'Senior-Boichis syndrome' SubClassOf 'disease' - 'Senior-Boichis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Senior-Boichis syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Senior-Boichis syndrome' SubClassOf 'part_of' some 'Familial cystic renal disease' + 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Senior-Boichis syndrome' SubClassOf 'disease' + 'Senior-Boichis syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_93402 Label: Syndactyly type 1 - 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 1' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 1' SubClassOf 'morphological anomaly' - 'Syndactyly type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 1' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Syndactyly type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C029 value "25.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 1' SubClassOf 'morphological anomaly' + 'Syndactyly type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) + 'Syndactyly type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_213528 Label: Rare adenocarcinoma of the breast - 'Rare adenocarcinoma of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Rare adenocarcinoma of the breast' SubClassOf 'disease' + 'Rare adenocarcinoma of the breast' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare malignant breast tumor' + 'Rare adenocarcinoma of the breast' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93400 Label: Congenital sialidosis type 2 - 'Congenital sialidosis type 2' SubClassOf 'part_of' some 'Sialidosis type 2' - 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' + 'Congenital sialidosis type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sialidosis type 2' + 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93406 Label: Syndactyly type 5 - 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 5' SubClassOf 'morphological anomaly' - 'Syndactyly type 5' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 5' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly type 5' SubClassOf 'part_of' some 'Syndactyly' + 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 5' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 5' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 5' SubClassOf 'morphological anomaly' + 'Syndactyly type 5' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 5' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_56970 Label: Transmissible spongiform encephalopathy - 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Transmissible spongiform encephalopathy' SubClassOf 'group of disorders' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some 'sporadic' - 'Transmissible spongiform encephalopathy' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Transmissible spongiform encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Transmissible spongiform encephalopathy' SubClassOf 'group of disorders' + 'Transmissible spongiform encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Transmissible spongiform encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Transmissible spongiform encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.15"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_213524 Label: Hereditary site-specific ovarian cancer syndrome - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disease' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Familial ovarian cancer' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'part_of' some 'Rare genetic gynecological and obstetrical diseases' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'disease' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic gynecological and obstetrical diseases' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial ovarian cancer' + 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_93405 Label: Syndactyly type 4 - 'Syndactyly type 4' SubClassOf 'morphological anomaly' - 'Syndactyly type 4' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 4' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Syndactyly type 4' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 4' SubClassOf 'morphological anomaly' + 'Syndactyly type 4' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' + 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 4' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 4' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_262977 Label: Partial trisomy of the long arm of chromosome 18 - 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93404 Label: Syndactyly type 3 - 'Syndactyly type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 3' SubClassOf 'part_of' some 'Syndactyly' - 'Syndactyly type 3' SubClassOf 'has_prevalence' some 'Unknown' - 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 3' SubClassOf 'morphological anomaly' + 'Syndactyly type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 3' SubClassOf 'morphological anomaly' + 'Syndactyly type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_93403 Label: Syndactyly type 2 - 'Syndactyly type 2' SubClassOf 'morphological anomaly' - 'Syndactyly type 2' SubClassOf 'has_prevalence' some 'Unknown' - 'Syndactyly type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndactyly type 2' SubClassOf 'part_of' some 'Syndactyly' + 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndactyly type 2' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndactyly type 2' SubClassOf 'morphological anomaly' + 'Syndactyly type 2' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Syndactyly type 2' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndactyly' Class: http://www.orpha.net/ORDO/Orphanet_41751 Label: Bietti crystalline dystrophy - 'Bietti crystalline dystrophy' SubClassOf 'disease' - 'Bietti crystalline dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bietti crystalline dystrophy' SubClassOf 'part_of' some 'Familial flecked retinopathy' + 'Bietti crystalline dystrophy' SubClassOf 'disease' + 'Bietti crystalline dystrophy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial flecked retinopathy' + 'Bietti crystalline dystrophy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_93409 Label: Brachydactyly-syndactyly, Zhao type - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'malformation syndrome' - 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Brachydactyly-syndactyly, Zhao type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'malformation syndrome' + 'Brachydactyly-syndactyly, Zhao type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_51188 Label: Ethylmalonic encephalopathy - 'Ethylmalonic encephalopathy' SubClassOf 'disease' - 'Ethylmalonic encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Ethylmalonic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Ethylmalonic encephalopathy' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder' + 'Ethylmalonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unspecified mitochondrial disorder' + 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ethylmalonic encephalopathy' SubClassOf 'disease' + 'Ethylmalonic encephalopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ethylmalonic encephalopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Ethylmalonic encephalopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_120969 Label: cytochrome P450, family 19, subfamily A, polypeptide 1 - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase excess syndrome' - 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase deficiency' + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aromatase excess syndrome' + 'cytochrome P450, family 19, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Aromatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_216796 Label: Osteogenesis imperfecta type 1 - 'Osteogenesis imperfecta type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Osteogenesis imperfecta type 1' SubClassOf 'has_prevalence' some 'Unknown' - 'Osteogenesis imperfecta type 1' SubClassOf 'clinical subtype' - 'Osteogenesis imperfecta type 1' SubClassOf 'part_of' some 'Osteogenesis imperfecta' - 'Osteogenesis imperfecta type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Osteogenesis imperfecta type 1' SubClassOf 'clinical subtype' + 'Osteogenesis imperfecta type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Osteogenesis imperfecta type 1' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Osteogenesis imperfecta type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Osteogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_140053 Label: aarF domain containing kinase 3 - 'aarF domain containing kinase 3' SubClassOf 'gene' - 'aarF domain containing kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to ubiquinone deficiency' + 'aarF domain containing kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q42.11"^^http://www.w3.org/2001/XMLSchema#string + 'aarF domain containing kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aarF domain containing kinase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive ataxia due to ubiquinone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_37553 Label: Cardiodysrhythmic potassium-sensitive periodic paralysis - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Periodic paralysis' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic periodic paralysis' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Muscular channelopathy' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'disease' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic muscular channelopathy' - 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic cardiac rhythm disease' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic muscular channelopathy' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Periodic paralysis' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic periodic paralysis' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'disease' + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_123512 Label: mitochondrially encoded cytochrome c oxidase I - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Candidate gene tested in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' - 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Candidate gene tested in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' + 'mitochondrially encoded cytochrome c oxidase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2697 Label: Arthrogryposis - renal dysfunction - cholestasis - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'part_of' some 'Disorder of bilirubin metabolism and excretion' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bilirubin metabolism and excretion' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic renal or urinary tract malformation' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Arthrogryposis multiplex congenita' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_120981 Label: cytochrome P450, family 21, subfamily A, polypeptide 2 - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' - 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'gene' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 21, subfamily A, polypeptide 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140058 Label: solute carrier family 16, member 12 - 'solute carrier family 16, member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile cataract - microcornea - renal glucosuria' - 'solute carrier family 16, member 12' SubClassOf 'gene' + 'solute carrier family 16, member 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile cataract - microcornea - renal glucosuria' + 'solute carrier family 16, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 16, member 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q23.32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2699 Label: Median nodule of the upper lip - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Median nodule of the upper lip' SubClassOf 'malformation syndrome' - 'Median nodule of the upper lip' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Median nodule of the upper lip' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Median nodule of the upper lip' SubClassOf 'malformation syndrome' + 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Median nodule of the upper lip' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Median nodule of the upper lip' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_123516 Label: mitochondrially encoded cytochrome c oxidase II - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' - 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase II' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_2698 Label: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' - 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'part_of' some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_160327 Label: PITPNM family member 3 - 'PITPNM family member 3' SubClassOf 'gene' - 'PITPNM family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'PITPNM family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PITPNM family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'PITPNM family member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_37559 Label: Acquired kinky hair syndrome - 'Acquired kinky hair syndrome' SubClassOf 'disease' - 'Acquired kinky hair syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Acquired kinky hair syndrome' SubClassOf 'disease' + 'Acquired kinky hair syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' Class: http://www.orpha.net/ORDO/Orphanet_93440 Label: Slender bone dysplasia - 'Slender bone dysplasia' SubClassOf 'group of disorders' + 'Slender bone dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93441 Label: Primary bone dysplasia with multiple joint dislocations - 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'group of disorders' + 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2695 Label: Bifid nose - 'Bifid nose' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Bifid nose' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Bifid nose' SubClassOf 'has_prevalence' some 'Unknown' - 'Bifid nose' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Bifid nose' SubClassOf 'malformation syndrome' - 'Bifid nose' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Bifid nose' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Nose and cavum anomaly' + 'Bifid nose' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Bifid nose' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Bifid nose' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Bifid nose' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_325093 Label: 46,XX disorder of sex development induced by endogenous maternal-derived androgen - '46,XX disorder of sex development induced by endogenous maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by endogenous maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93442 Label: Chondrodysplasia punctata - 'Chondrodysplasia punctata' SubClassOf 'group of disorders' + 'Chondrodysplasia punctata' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_140050 Label: TERF1 (TRF1)-interacting nuclear factor 2 - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinopathy - anemia- central nervous system anomalies' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' - 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'gene' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinopathy - anemia- central nervous system anomalies' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q12"^^http://www.w3.org/2001/XMLSchema#string + 'TERF1 (TRF1)-interacting nuclear factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_262995 Label: Partial trisomy of the long arm of chromosome 20 - 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_2690 Label: Neutropenia - monocytopenia - deafness - 'Neutropenia - monocytopenia - deafness' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-haematopoietic manifestations' - 'Neutropenia - monocytopenia - deafness' SubClassOf 'disease' - 'Neutropenia - monocytopenia - deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Neutropenia - monocytopenia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Neutropenia - monocytopenia - deafness' SubClassOf 'disease' + 'Neutropenia - monocytopenia - deafness' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional neutropenia with extra-haematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_93437 Label: Acromesomelic dysplasia - 'Acromesomelic dysplasia' SubClassOf 'group of disorders' + 'Acromesomelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325099 Label: 46,XX disorder of sex development induced by exogenous maternal-derived androgen - '46,XX disorder of sex development induced by exogenous maternal-derived androgen' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by exogenous maternal-derived androgen' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93436 Label: Acromelic dysplasia - 'Acromelic dysplasia' SubClassOf 'group of disorders' + 'Acromelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213512 Label: Malignant mixed epithelial mesenchymal tumor of the ovary - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'disease' - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'disease' + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_262986 Label: Partial duplication of the long arm of chromosome 19 - 'Partial duplication of the long arm of chromosome 19' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 19' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93439 Label: Bent bone dysplasia - 'Bent bone dysplasia' SubClassOf 'group of disorders' + 'Bent bone dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93438 Label: Mesomelic and rhizo-mesomelic dysplasia - 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'group of disorders' + 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213517 Label: Familial ovarian cancer - 'Familial ovarian cancer' SubClassOf 'group of disorders' + 'Familial ovarian cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_220393 Label: Diffuse cutaneous systemic sclerosis - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'clinical subtype' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Diffuse cutaneous systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'clinical subtype' + 'Diffuse cutaneous systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C032 value "1.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Diffuse cutaneous systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Diffuse cutaneous systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.8"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_93434 Label: Spondylodysplastic dysplasia - 'Spondylodysplastic dysplasia' SubClassOf 'group of disorders' + 'Spondylodysplastic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123508 Label: mitochondrially encoded ATP synthase 6 - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited spastic paraplegia' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'NARP syndrome' - 'mitochondrially encoded ATP synthase 6' SubClassOf 'gene' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Periodic paralysis with later-onset distal motor neuropathy' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited spastic paraplegia' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'NARP syndrome' + 'mitochondrially encoded ATP synthase 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 Class: http://www.orpha.net/ORDO/Orphanet_160333 Label: pyridoxamine 5'-phosphate oxidase - 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxal phosphate-responsive seizures' - 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'gene' + 'pyridoxamine 5'-phosphate oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.32"^^http://www.w3.org/2001/XMLSchema#string + 'pyridoxamine 5'-phosphate oxidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pyridoxal phosphate-responsive seizures' + 'pyridoxamine 5'-phosphate oxidase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_120977 Label: cytochrome P450, family 1, subfamily B, polypeptide 1 - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile glaucoma' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' - 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p22.2"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Major susceptibility factor in' some 'Juvenile glaucoma' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital glaucoma' + 'cytochrome P450, family 1, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peters anomaly' Class: http://www.orpha.net/ORDO/Orphanet_160331 Label: phospholamban - 'phospholamban' SubClassOf 'gene' - 'phospholamban' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'phospholamban' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phospholamban' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'phospholamban' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160313 Label: myosin IIIA - 'myosin IIIA' SubClassOf 'gene' - 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'myosin IIIA' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10p11.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_140044 Label: four and a half LIM domains 1 - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reducing body myopathy' - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with postural muscle atrophy' - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' - 'four and a half LIM domains 1' SubClassOf 'gene' + 'four and a half LIM domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq26.3"^^http://www.w3.org/2001/XMLSchema#string + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reducing body myopathy' + 'four and a half LIM domains 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked myopathy with postural muscle atrophy' + 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120994 Label: cytochrome P450, family 27, subfamily B, polypeptide 1 - 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'gene' - 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q14.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cytochrome P450, family 27, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcemic vitamin D-dependent rickets' Class: http://www.orpha.net/ORDO/Orphanet_123520 Label: mitochondrially encoded cytochrome c oxidase III - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'gene' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Genetic recurrent myoglobinuria' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited Leigh syndrome' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_85199 Label: Craniosynostosis - anal anomalies - porokeratosis - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'malformation syndrome' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'part_of' some 'Cleidocranial dysplasia and isolated cranial ossification defect' - 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic craniosynostosis' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'malformation syndrome' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cleidocranial dysplasia and isolated cranial ossification defect' + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85198 Label: Dysspondyloenchondromatosis - 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Dysspondyloenchondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Dysspondyloenchondromatosis' SubClassOf 'malformation syndrome' - 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Dysspondyloenchondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Dysspondyloenchondromatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Dysspondyloenchondromatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dysspondyloenchondromatosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84064 Label: Syndromic diarrhea - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' - 'Syndromic diarrhea' SubClassOf 'disease' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Syndromic diarrhea' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' - 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Syndromic diarrhea' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Syndromic diarrhea' SubClassOf 'disease' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Syndromic diarrhea' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Syndromic diarrhea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Syndromic diarrhea' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Syndromic diarrhea' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intractable diarrhea of infancy' + 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_85197 Label: Genochondromatosis type 1 - 'Genochondromatosis type 1' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Genochondromatosis type 1' SubClassOf 'disease' - 'Genochondromatosis type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Genochondromatosis type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Genochondromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with disorganized development of skeletal components' + 'Genochondromatosis type 1' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Genochondromatosis type 1' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Genochondromatosis type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_84065 Label: Idiopathic malabsorption due to bile acid synthesis defects - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'part_of' some 'Disorder of bile acid synthesis' - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of bile acid synthesis' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Intestinal disease due to fat malabsorption' Class: http://www.orpha.net/ORDO/Orphanet_85196 Label: Nodulosis-arthropathy-osteolysis syndrome - 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'clinical subtype' - 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'part_of' some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multicentric osteolysis-nodulosis-arthropathy spectrum' + 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_140047 Label: bone morphogenetic protein 4 - 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with brain and digit anomalies' - 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' - 'bone morphogenetic protein 4' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' - 'bone morphogenetic protein 4' SubClassOf 'gene' + 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with brain and digit anomalies' + 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'bone morphogenetic protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'bone morphogenetic protein 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q22-q23"^^http://www.w3.org/2001/XMLSchema#string + 'bone morphogenetic protein 4' SubClassOf 'Role in the phenotype of' some '14q22q23 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123524 Label: mitochondrially encoded cytochrome b - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' - 'mitochondrially encoded cytochrome b' SubClassOf 'gene' - 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histiocytoid cardiomyopathy' + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leber hereditary optic neuropathy' + 'mitochondrially encoded cytochrome b' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'mitochondrially encoded cytochrome b' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "mitochondria"^^http://www.w3.org/2001/XMLSchema#string + 'mitochondrially encoded cytochrome b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Histiocytoid cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_93430 Label: Multiple metaphyseal dysplasia - 'Multiple metaphyseal dysplasia' SubClassOf 'group of disorders' + 'Multiple metaphyseal dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_85195 Label: Familial expansile osteolysis - 'Familial expansile osteolysis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial expansile osteolysis' SubClassOf 'disease' - 'Familial expansile osteolysis' SubClassOf 'part_of' some 'Primary osteolysis' + 'Familial expansile osteolysis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary osteolysis' + 'Familial expansile osteolysis' SubClassOf 'disease' + 'Familial expansile osteolysis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 Class: http://www.orpha.net/ORDO/Orphanet_85194 Label: Spondylo-ocular syndrome - 'Spondylo-ocular syndrome' SubClassOf 'malformation syndrome' - 'Spondylo-ocular syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Spondylo-ocular syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Spondylo-ocular syndrome' SubClassOf 'malformation syndrome' + 'Spondylo-ocular syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' Class: http://www.orpha.net/ORDO/Orphanet_85193 Label: Idiopathic juvenile osteoporosis - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic juvenile osteoporosis' SubClassOf 'malformation syndrome' - 'Idiopathic juvenile osteoporosis' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Idiopathic juvenile osteoporosis' SubClassOf 'malformation syndrome' + 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_85192 Label: Calvarial doughnut lesions - bone fragility - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Calvarial doughnut lesions - bone fragility' SubClassOf 'malformation syndrome' + 'Calvarial doughnut lesions - bone fragility' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Calvarial doughnut lesions - bone fragility' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Calvarial doughnut lesions - bone fragility' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85191 Label: Singleton-Merten dysplasia - 'Singleton-Merten dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' - 'Singleton-Merten dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Singleton-Merten dysplasia' SubClassOf 'malformation syndrome' - 'Singleton-Merten dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Singleton-Merten dysplasia' SubClassOf 'has_AgeOfOnset' some 'No data available' + 'Singleton-Merten dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Singleton-Merten dysplasia' SubClassOf 'malformation syndrome' + 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary bone dysplasia with decreased bone density' + 'Singleton-Merten dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_140041 Label: oncostatin M receptor - 'oncostatin M receptor' SubClassOf 'gene' - 'oncostatin M receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'oncostatin M receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'oncostatin M receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial primary localized cutaneous amyloidosis' + 'oncostatin M receptor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_93426 Label: Short rib dysplasia - 'Short rib dysplasia' SubClassOf 'group of disorders' + 'Short rib dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213500 Label: Rare ovarian cancer - 'Rare ovarian cancer' SubClassOf 'group of disorders' + 'Rare ovarian cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Rare ovarian cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228308 Label: Carnitine palmitoyl transferase II deficiency, neonatal form - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_93425 Label: Filamin-related bone disorder - 'Filamin-related bone disorder' SubClassOf 'group of disorders' + 'Filamin-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93424 Label: Perlecan-related bone disorder - 'Perlecan-related bone disorder' SubClassOf 'group of disorders' + 'Perlecan-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93423 Label: Sulfation-related bone disorder - 'Sulfation-related bone disorder' SubClassOf 'group of disorders' + 'Sulfation-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93422 Label: Type 11 collagen-related bone disorder - 'Type 11 collagen-related bone disorder' SubClassOf 'group of disorders' + 'Type 11 collagen-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_213504 Label: Adenocarcinoma of ovary - 'Adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' - 'Adenocarcinoma of ovary' SubClassOf 'disease' + 'Adenocarcinoma of ovary' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant epithelial tumor of ovary' + 'Adenocarcinoma of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93421 Label: Type 2 collagen-related bone disorder - 'Type 2 collagen-related bone disorder' SubClassOf 'group of disorders' + 'Type 2 collagen-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228302 Label: Carnitine palmitoyl transferase II deficiency, myopathic form - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_prevalence' some 'Unknown' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' Class: http://www.orpha.net/ORDO/Orphanet_160320 Label: phosphodiesterase 6H, cGMP-specific, cone, gamma - 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'gene' - 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Achromatopsia' + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphodiesterase 6H, cGMP-specific, cone, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_160322 Label: phosphatidylinositol-4-phosphate 5-kinase, type I, gamma - 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'gene' - 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lethal congenital contracture syndrome type 3' + 'phosphatidylinositol-4-phosphate 5-kinase, type I, gamma' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_120989 Label: cytochrome P450, family 27, subfamily A, polypeptide 1 - 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebrotendinous xanthomatosis' - 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebrotendinous xanthomatosis' + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome P450, family 27, subfamily A, polypeptide 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228305 Label: Carnitine palmitoyl transferase II deficiency, severe infantile form - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'part_of' some 'Carnitine palmitoyltransferase II deficiency' - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Carnitine palmitoyltransferase II deficiency' + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93429 Label: Multiple epiphyseal dysplasia and pseudoachondroplasia - 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'group of disorders' + 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119462 Label: chloride channel, voltage-sensitive 7 - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Albers-Sch�nberg osteopetrosis' - 'chloride channel, voltage-sensitive 7' SubClassOf 'gene' + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate osteopetrosis' + 'chloride channel, voltage-sensitive 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' + 'chloride channel, voltage-sensitive 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Albers-Sch�nberg osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_93460 Label: Overgrowth syndrome - 'Overgrowth syndrome' SubClassOf 'group of disorders' + 'Overgrowth syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93461 Label: Chromosomal disease with overgrowth - 'Chromosomal disease with overgrowth' SubClassOf 'group of disorders' + 'Chromosomal disease with overgrowth' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_33208 Label: Idiopathic hypersomnia - 'Idiopathic hypersomnia' SubClassOf 'part_of' some 'Sleep disorder' - 'Idiopathic hypersomnia' SubClassOf 'disease' - 'Idiopathic hypersomnia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Idiopathic hypersomnia' SubClassOf 'has_prevalence' some 'Unknown' + 'Idiopathic hypersomnia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Idiopathic hypersomnia' SubClassOf 'disease' + 'Idiopathic hypersomnia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sleep disorder' + 'Idiopathic hypersomnia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_228315 Label: Idiopathic hypersomnia with long sleep time - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'clinical subtype' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_prevalence' some 'Unknown' - 'Idiopathic hypersomnia with long sleep time' SubClassOf 'part_of' some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia with long sleep time' SubClassOf 'clinical subtype' + 'Idiopathic hypersomnia with long sleep time' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia with long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_270389 Label: KIAA1033 - 'KIAA1033' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'KIAA1033' SubClassOf 'gene' + 'KIAA1033' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'KIAA1033' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string + 'KIAA1033' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228312 Label: Autoimmune hemolytic anemia, cold type - 'Autoimmune hemolytic anemia, cold type' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'group of disorders' + 'Autoimmune hemolytic anemia, cold type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Autoimmune hemolytic anemia, cold type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 Class: http://www.orpha.net/ORDO/Orphanet_93454 Label: Dysostosis with predominant vertebral and costal involvement - 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'group of disorders' + 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93455 Label: Patellar dysostosis - 'Patellar dysostosis' SubClassOf 'group of disorders' + 'Patellar dysostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225123 Label: Hemochromatosis type 3 - 'Hemochromatosis type 3' SubClassOf 'disease' - 'Hemochromatosis type 3' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Hemochromatosis type 3' SubClassOf 'part_of' some 'Rare hereditary hemochromatosis' - 'Hemochromatosis type 3' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hemochromatosis type 3' SubClassOf 'disease' + 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Hemochromatosis type 3' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Hemochromatosis type 3' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hemochromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary hemochromatosis' + 'Hemochromatosis type 3' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_93457 Label: Non-syndromic limb reduction defect - 'Non-syndromic limb reduction defect' SubClassOf 'group of disorders' + 'Non-syndromic limb reduction defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93458 Label: Non-syndromic polydactyly, syndactyly and/or hyperphalangy - 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'group of disorders' + 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93459 Label: Syndrome with synostosis or other joint formation defect - 'Syndrome with synostosis or other joint formation defect' SubClassOf 'group of disorders' + 'Syndrome with synostosis or other joint formation defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306617 Label: X-linked complicated spastic paraplegia type 1 - 'X-linked complicated spastic paraplegia type 1' SubClassOf 'part_of' some 'L1 syndrome' - 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' + 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' + 'X-linked complicated spastic paraplegia type 1' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'L1 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119467 Label: chloride channel, voltage-sensitive Kb - 'chloride channel, voltage-sensitive Kb' SubClassOf 'gene' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Bartter syndrome with deafness' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Bartter syndrome' - 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gitelman syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Gitelman syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p36"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Infantile Bartter syndrome with deafness' + 'chloride channel, voltage-sensitive Kb' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic Bartter syndrome' + 'chloride channel, voltage-sensitive Kb' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_228318 Label: Idiopathic hypersomnia without long sleep time - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'clinical subtype' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Idiopathic hypersomnia without long sleep time' SubClassOf 'part_of' some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia without long sleep time' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Idiopathic hypersomnia' + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'clinical subtype' + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Idiopathic hypersomnia without long sleep time' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Idiopathic hypersomnia without long sleep time' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_210163 Label: Congenital lethal myopathy, Compton-North type - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'disease' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Congenital lethal myopathy, Compton-North type' SubClassOf 'part_of' some 'Congenital myopathy' + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Congenital lethal myopathy, Compton-North type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'disease' + 'Congenital lethal myopathy, Compton-North type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital myopathy' + 'Congenital lethal myopathy, Compton-North type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_262923 Label: Partial duplication of the long arm of chromosome 11 - 'Partial duplication of the long arm of chromosome 11' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 11' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262941 Label: Partial duplication of the long arm of chromosome 14 - 'Partial duplication of the long arm of chromosome 14' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 14' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_285348 Label: miR-17-92 cluster host gene (non-protein coding) - 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'gene' - 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 2' + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410299 + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q31.3"^^http://www.w3.org/2001/XMLSchema#string + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_260894 Label: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase - '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'AICA-ribosiduria' - '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'gene' + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf 'Disease-causing germline mutation(s) in' some 'AICA-ribosiduria' + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + '5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q35"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_285341 Label: PSMC3 interacting protein - 'PSMC3 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' - 'PSMC3 interacting protein' SubClassOf 'gene' + 'PSMC3 interacting protein' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' + 'PSMC3 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'PSMC3 interacting protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93453 Label: Dysostosis with predominant craniofacial involvement - 'Dysostosis with predominant craniofacial involvement' SubClassOf 'group of disorders' + 'Dysostosis with predominant craniofacial involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93451 Label: Cleidocranial dysplasia and isolated cranial ossification defect - 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'group of disorders' + 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93450 Label: Primary bone dysplasia with disorganized development of skeletal components - 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'group of disorders' + 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123500 Label: msh homeobox 2 - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis, Boston type' - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parietal foramina' - 'msh homeobox 2' SubClassOf 'gene' - 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Parietal foramina with cleidocranial dysplasia' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'msh homeobox 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis, Boston type' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Parietal foramina' + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q35.2"^^http://www.w3.org/2001/XMLSchema#string + 'msh homeobox 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Parietal foramina with cleidocranial dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_33226 Label: Waldenstr�m macroglobulinemia - 'Waldenstr�m macroglobulinemia' SubClassOf 'part_of' some 'Indolent B-cell non-Hodgkin lymphoma' - 'Waldenstr�m macroglobulinemia' SubClassOf 'part_of' some 'Malignant lymphoma with peripheral neuropathy' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_prevalence' some 'Unknown' - 'Waldenstr�m macroglobulinemia' SubClassOf 'disease' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Waldenstr�m macroglobulinemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Waldenstr�m macroglobulinemia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malignant lymphoma with peripheral neuropathy' + 'Waldenstr�m macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Indolent B-cell non-Hodgkin lymphoma' + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.31"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf 'disease' + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.81"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C032 value "2.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Waldenstr�m macroglobulinemia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Waldenstr�m macroglobulinemia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.55"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_210159 Label: Adult hepatocellular carcinoma - 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' - 'Adult hepatocellular carcinoma' SubClassOf 'part_of' some 'Hepatocellular carcinoma' + 'Adult hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hepatocellular carcinoma' + 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220386 Label: Semilobar holoprosencephaly - 'Semilobar holoprosencephaly' SubClassOf 'clinical subtype' - 'Semilobar holoprosencephaly' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Semilobar holoprosencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Semilobar holoprosencephaly' SubClassOf 'part_of' some 'Holoprosencephaly' - 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some 'sporadic' + 'Semilobar holoprosencephaly' SubClassOf 'clinical subtype' + 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Semilobar holoprosencephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Semilobar holoprosencephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Semilobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Holoprosencephaly' + 'Semilobar holoprosencephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Semilobar holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_260889 Label: tubulin, alpha 8 - 'tubulin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria with optic nerve hypoplasia' - 'tubulin, alpha 8' SubClassOf 'gene' + 'tubulin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polymicrogyria with optic nerve hypoplasia' + 'tubulin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tubulin, alpha 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_93446 Label: Primary bone dysplasia with decreased bone density - 'Primary bone dysplasia with decreased bone density' SubClassOf 'group of disorders' + 'Primary bone dysplasia with decreased bone density' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93443 Label: Neonatal osteosclerotic dysplasia - 'Neonatal osteosclerotic dysplasia' SubClassOf 'group of disorders' + 'Neonatal osteosclerotic dysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93444 Label: Primary bone dysplasia with increased bone density - 'Primary bone dysplasia with increased bone density' SubClassOf 'group of disorders' + 'Primary bone dysplasia with increased bone density' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93449 Label: Primary osteolysis - 'Primary osteolysis' SubClassOf 'group of disorders' + 'Primary osteolysis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119453 Label: chloride channel, voltage-sensitive 5 - 'chloride channel, voltage-sensitive 5' SubClassOf 'gene' - 'chloride channel, voltage-sensitive 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dent disease type 1' + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23-p11.22"^^http://www.w3.org/2001/XMLSchema#string + 'chloride channel, voltage-sensitive 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Dent disease type 1' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label: CLN1 disease - 'CLN1 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'CLN1 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN1 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN1 disease' SubClassOf 'etiological subtype' - 'CLN1 disease' SubClassOf 'part_of' some 'Infantile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN1 disease' SubClassOf 'etiological subtype' + 'CLN1 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN1 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_93447 Label: Primary bone dysplasia with defective bone mineralization - 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'group of disorders' + 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93448 Label: Lysosomal storage disease with skeletal involvement - 'Lysosomal storage disease with skeletal involvement' SubClassOf 'group of disorders' + 'Lysosomal storage disease with skeletal involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262932 Label: Partial duplication of the long arm of chromosome 13 - 'Partial duplication of the long arm of chromosome 13' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 13' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_262950 Label: Partial duplication of the long arm of chromosome 15 - 'Partial duplication of the long arm of chromosome 15' SubClassOf 'group of disorders' + 'Partial duplication of the long arm of chromosome 15' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119482 Label: solute carrier family 39 (zinc transporter), member 4 - 'solute carrier family 39 (zinc transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis enteropathica' - 'solute carrier family 39 (zinc transporter), member 4' SubClassOf 'gene' + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Acrodermatitis enteropathica' + 'solute carrier family 39 (zinc transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_100100 Label: Thymic tumor - 'Thymic tumor' SubClassOf 'group of disorders' + 'Thymic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_306636 Label: Rare hepatic tumor - 'Rare hepatic tumor' SubClassOf 'group of disorders' + 'Rare hepatic tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label: CLN10 disease - 'CLN10 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'part_of' some 'Congenital neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'CLN10 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN10 disease' SubClassOf 'etiological subtype' - 'CLN10 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Congenital neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf 'etiological subtype' + 'CLN10 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN10 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_306633 Label: Rare biliary tract cancer - 'Rare biliary tract cancer' SubClassOf 'group of disorders' + 'Rare biliary tract cancer' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325055 Label: 46,XX disorder of gonadal development - '46,XX disorder of gonadal development' SubClassOf 'group of disorders' + '46,XX disorder of gonadal development' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119486 Label: solute carrier family 40 (iron-regulated transporter), member 1 - 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 4' - 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'gene' + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hemochromatosis type 4' + 'solute carrier family 40 (iron-regulated transporter), member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2q32"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_200995 Label: cyclin-dependent kinase inhibitor 1B (p27, Kip1) - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 4' - 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 4' + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12p13.1-p12"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 1B (p27, Kip1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Multiple endocrine neoplasia type 1' Class: http://www.orpha.net/ORDO/Orphanet_93476 Label: Hurler-Scheie syndrome - 'Hurler-Scheie syndrome' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Hurler-Scheie syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Hurler-Scheie syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' - 'Hurler-Scheie syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Hurler-Scheie syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hurler-Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_100101 Label: Endocrine tumor with other location - 'Endocrine tumor with other location' SubClassOf 'group of disorders' + 'Endocrine tumor with other location' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_225147 Label: Sporadic infantile bilateral striatal necrosis - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Infantile bilateral striatal necrosis' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Sporadic infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile bilateral striatal necrosis' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Sporadic infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) Class: http://www.orpha.net/ORDO/Orphanet_93474 Label: Scheie syndrome - 'Scheie syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' - 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Scheie syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Scheie syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Scheie syndrome' SubClassOf 'clinical subtype' + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409947 + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Scheie syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Scheie syndrome' SubClassOf 'clinical subtype' + 'Scheie syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_93473 Label: Hurler syndrome - 'Hurler syndrome' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' - 'Hurler syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Hurler syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Hurler syndrome' SubClassOf 'clinical subtype' - 'Hurler syndrome' SubClassOf 'part_of' some 'Lysosomal disease with hypertrophic cardiomyopathy' - 'Hurler syndrome' SubClassOf 'part_of' some 'Mucopolysaccharidosis type 1' - 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with hypertrophic cardiomyopathy' + 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Hurler syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.76"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Hurler syndrome' SubClassOf 'clinical subtype' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.64"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mucopolysaccharidosis type 1' + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.38"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410051) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C029 value "1.05"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.93"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410207) and (http://www.orpha.net/ORDO/Orphanet_C026 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C029 value "0.06"^^http://www.w3.org/2001/XMLSchema#string) + 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Lysosomal disease with restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_119470 Label: claudin 1 - 'claudin 1' SubClassOf 'gene' - 'claudin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis - hypotrichosis - sclerosing cholangitis' + 'claudin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'claudin 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q28-q29"^^http://www.w3.org/2001/XMLSchema#string + 'claudin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis - hypotrichosis - sclerosing cholangitis' Class: http://www.orpha.net/ORDO/Orphanet_99226 Label: Monosomy X - 'Monosomy X' SubClassOf 'etiological subtype' - 'Monosomy X' SubClassOf 'part_of' some 'Turner syndrome' + 'Monosomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Turner syndrome' + 'Monosomy X' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_99228 Label: Mosaic monosomy X - 'Mosaic monosomy X' SubClassOf 'part_of' some 'Turner syndrome' - 'Mosaic monosomy X' SubClassOf 'etiological subtype' + 'Mosaic monosomy X' SubClassOf 'etiological subtype' + 'Mosaic monosomy X' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Turner syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119474 Label: solute carrier family 37 (glucose-6-phosphate transporter), member 4 - 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' - 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'gene' + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' + 'solute carrier family 37 (glucose-6-phosphate transporter), member 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325061 Label: 46,XX disorder of sex development induced by fetoplacental androgens excess - '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'group of disorders' + '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_228340 Label: CLN4A disease - 'CLN4A disease' SubClassOf 'etiological subtype' - 'CLN4A disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN4A disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN4A disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'CLN4A disease' SubClassOf 'etiological subtype' + 'CLN4A disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN4A disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLN4A disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 Class: http://www.orpha.net/ORDO/Orphanet_228343 Label: CLN4B disease - 'CLN4B disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'CLN4B disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CLN4B disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN4B disease' SubClassOf 'etiological subtype' + 'CLN4B disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'CLN4B disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CLN4B disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Adult neuronal ceroid lipofuscinosis' + 'CLN4B disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label: CLN3 disease - 'CLN3 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN3 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN3 disease' SubClassOf 'etiological subtype' - 'CLN3 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'CLN3 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN3 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'CLN3 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN3 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label: CLN2 disease - 'CLN2 disease' SubClassOf 'etiological subtype' - 'CLN2 disease' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CLN2 disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'CLN2 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN2 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'etiological subtype' + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CLN2 disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Late infantile neuronal ceroid lipofuscinosis' + 'CLN2 disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_225154 Label: Familial infantile bilateral striatal necrosis - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Familial infantile bilateral striatal necrosis' SubClassOf 'part_of' some 'Infantile bilateral striatal necrosis' + 'Familial infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Infantile bilateral striatal necrosis' + 'Familial infantile bilateral striatal necrosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Familial infantile bilateral striatal necrosis' SubClassOf 'clinical subtype' + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409933 Class: http://www.orpha.net/ORDO/Orphanet_262959 Label: Partial trisomy of the long arm of chromosome 16 - 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'group of disorders' + 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93465 Label: Lethal chondrodysplasia - 'Lethal chondrodysplasia' SubClassOf 'group of disorders' + 'Lethal chondrodysplasia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331710 Label: diacylglycerol O-acyltransferase 1 - 'diacylglycerol O-acyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital chronic diarrhea with protein-losing enteropathy' - 'diacylglycerol O-acyltransferase 1' SubClassOf 'gene' + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Congenital chronic diarrhea with protein-losing enteropathy' + 'diacylglycerol O-acyltransferase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_96369 Label: Early-onset schizophrenia - 'Early-onset schizophrenia' SubClassOf 'group of disorders' + 'Early-onset schizophrenia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_325345 Label: 46,XY ovotesticular disorder of sex development - '46,XY ovotesticular disorder of sex development' SubClassOf 'part_of' some '46,XY disorder of gonadal development' - '46,XY ovotesticular disorder of sex development' SubClassOf 'part_of' some 'Gonadal dysgenesis of gynecological interest' - '46,XY ovotesticular disorder of sex development' SubClassOf 'disease' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '46,XY disorder of gonadal development' + '46,XY ovotesticular disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gonadal dysgenesis of gynecological interest' + '46,XY ovotesticular disorder of sex development' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_66661 Label: Mast cell sarcoma - 'Mast cell sarcoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Mast cell sarcoma' SubClassOf 'disease' - 'Mast cell sarcoma' SubClassOf 'part_of' some 'Mastocytosis' + 'Mast cell sarcoma' SubClassOf 'disease' + 'Mast cell sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Mast cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mastocytosis' Class: http://www.orpha.net/ORDO/Orphanet_66662 Label: Extracutaneous mastocytoma - 'Extracutaneous mastocytoma' SubClassOf 'part_of' some 'Mastocytosis' - 'Extracutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Extracutaneous mastocytoma' SubClassOf 'disease' + 'Extracutaneous mastocytoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Extracutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mastocytosis' + 'Extracutaneous mastocytoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_210571 Label: Dystonia 16 - 'Dystonia 16' SubClassOf 'part_of' some 'Persistent combined dystonia' - 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Dystonia 16' SubClassOf 'disease' - 'Dystonia 16' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Dystonia 16' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Dystonia 16' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dystonia 16' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Persistent combined dystonia' + 'Dystonia 16' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Dystonia 16' SubClassOf 'disease' + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Dystonia 16' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Dystonia 16' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_210576 Label: Congenital temporomandibular joint ankylosis - 'Congenital temporomandibular joint ankylosis' SubClassOf 'disease' - 'Congenital temporomandibular joint ankylosis' SubClassOf 'part_of' some 'Temporomandibular joint anomaly' + 'Congenital temporomandibular joint ankylosis' SubClassOf 'disease' + 'Congenital temporomandibular joint ankylosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Temporomandibular joint anomaly' Class: http://www.orpha.net/ORDO/Orphanet_258610 Label: proteasome (prosome, macropain) subunit, beta type, 8 - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CANDLE syndrome' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'gene' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nakajo-Nishimura syndrome' - 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'JMP syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'CANDLE syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nakajo-Nishimura syndrome' + 'proteasome (prosome, macropain) subunit, beta type, 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'JMP syndrome' Class: http://www.orpha.net/ORDO/Orphanet_331721 Label: WD repeat domain 45 - 'WD repeat domain 45' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-propeller protein-associated neurodegeneration' - 'WD repeat domain 45' SubClassOf 'gene' + 'WD repeat domain 45' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'WD repeat domain 45' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beta-propeller protein-associated neurodegeneration' + 'WD repeat domain 45' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xp11.23"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_39812 Label: Graft versus host disease - 'Graft versus host disease' SubClassOf 'disease' - 'Graft versus host disease' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Graft versus host disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Graft versus host disease' SubClassOf 'part_of' some 'Rare immune disease' - 'Graft versus host disease' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Graft versus host disease' SubClassOf 'disease' + 'Graft versus host disease' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Graft versus host disease' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Graft versus host disease' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_48372 Label: Nodular regenerative hyperplasia of the liver - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'disease' - 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_prevalence' some 'Unknown' + 'Nodular regenerative hyperplasia of the liver' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Nodular regenerative hyperplasia of the liver' SubClassOf 'disease' + 'Nodular regenerative hyperplasia of the liver' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Nodular regenerative hyperplasia of the liver' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_69125 Label: Anonychia with flexural pigmentation - 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anonychia with flexural pigmentation' SubClassOf 'malformation syndrome' - 'Anonychia with flexural pigmentation' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Anonychia with flexural pigmentation' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Anonychia with flexural pigmentation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Anonychia with flexural pigmentation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Anonychia with flexural pigmentation' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Anonychia with flexural pigmentation' SubClassOf 'malformation syndrome' + 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anonychia with flexural pigmentation' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anonychia with flexural pigmentation' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ectodermal dysplasia syndrome' + 'Anonychia with flexural pigmentation' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_48377 Label: Subcorneal pustular dermatosis - 'Subcorneal pustular dermatosis' SubClassOf 'disease' - 'Subcorneal pustular dermatosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Subcorneal pustular dermatosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Subcorneal pustular dermatosis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Subcorneal pustular dermatosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Subcorneal pustular dermatosis' SubClassOf 'disease' + 'Subcorneal pustular dermatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other acquired skin disease' + 'Subcorneal pustular dermatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Subcorneal pustular dermatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_69126 Label: Pyogenic arthritis - pyoderma gangrenosum - acne - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Unclassified genetic skin disorder' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'disease' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Unclassified genetic skin disorder' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with skin involvement' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Pyogenic autoinflammatory syndrome' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autoinflammatory syndrome with immune deficiency' + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_210581 Label: Temporomandibular joint anomaly - 'Temporomandibular joint anomaly' SubClassOf 'group of disorders' + 'Temporomandibular joint anomaly' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_258625 Label: aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 - 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' - 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'gene' + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' + 'aminoacyl tRNA synthetase complex-interacting multifunctional protein 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_210584 Label: Spindle cell hemangioma - 'Spindle cell hemangioma' SubClassOf 'disease' - 'Spindle cell hemangioma' SubClassOf 'part_of' some 'Giant infantile hemangioma' + 'Spindle cell hemangioma' SubClassOf 'disease' + 'Spindle cell hemangioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Giant infantile hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_258621 Label: NIMA-related kinase 1 - 'NIMA-related kinase 1' SubClassOf 'gene' - 'NIMA-related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'NIMA-related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'NIMA-related kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type' + 'NIMA-related kinase 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "4q32.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_331716 Label: ubiquitin protein ligase E3B - 'ubiquitin protein ligase E3B' SubClassOf 'gene' - 'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' - 'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocerebrofacial syndrome, Kaufman type' + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Oculocerebrofacial syndrome, Kaufman type' + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q24.12"^^http://www.w3.org/2001/XMLSchema#string + 'ubiquitin protein ligase E3B' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' Class: http://www.orpha.net/ORDO/Orphanet_210589 Label: Infantile hemangioma of rare localization - 'Infantile hemangioma of rare localization' SubClassOf 'group of disorders' + 'Infantile hemangioma of rare localization' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181124 Label: ST3 beta-galactoside alpha-2,3-sialyltransferase 5 - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish infantile epilepsy syndrome' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'gene' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Salt-and-pepper syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amish infantile epilepsy syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "2p11.2"^^http://www.w3.org/2001/XMLSchema#string + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Salt-and-pepper syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401986 Label: 1p31p32 microdeletion syndrome - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' - '1p31p32 microdeletion syndrome' SubClassOf 'malformation syndrome' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 1' + '1p31p32 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66637 Label: Diaphanospondylodysostosis - 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Diaphanospondylodysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Diaphanospondylodysostosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Diaphanospondylodysostosis' SubClassOf 'malformation syndrome' - 'Diaphanospondylodysostosis' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Diaphanospondylodysostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Diaphanospondylodysostosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis with predominant vertebral and costal involvement' + 'Diaphanospondylodysostosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' + 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Diaphanospondylodysostosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Diaphanospondylodysostosis' SubClassOf 'malformation syndrome' + 'Diaphanospondylodysostosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_66646 Label: Cutaneous mastocytosis - 'Cutaneous mastocytosis' SubClassOf 'group of disorders' - 'Cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cutaneous mastocytosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Cutaneous mastocytosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Cutaneous mastocytosis' SubClassOf 'group of disorders' + 'Cutaneous mastocytosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Cutaneous mastocytosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_400463 Label: tubby bipartite transcription factor - 'tubby bipartite transcription factor' SubClassOf 'gene' - 'tubby bipartite transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Retinitis pigmentosa' + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'tubby bipartite transcription factor' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401993 Label: Cold-induced sweating syndrome-hyperthermia spectrum - 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'group of disorders' + 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_181135 Label: keratin 4 - 'keratin 4' SubClassOf 'gene' - 'keratin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13.13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401996 Label: Karyomegalic interstitial nephritis - 'Karyomegalic interstitial nephritis' SubClassOf 'part_of' some 'Familial cystic renal disease' - 'Karyomegalic interstitial nephritis' SubClassOf 'disease' + 'Karyomegalic interstitial nephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial cystic renal disease' + 'Karyomegalic interstitial nephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181140 Label: keratin 13 - 'keratin 13' SubClassOf 'gene' - 'keratin 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' + 'keratin 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q21.2"^^http://www.w3.org/2001/XMLSchema#string + 'keratin 13' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'keratin 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'White sponge nevus' Class: http://www.orpha.net/ORDO/Orphanet_311587 Label: nuclear receptor coactivator 4 - 'nuclear receptor coactivator 4' SubClassOf 'gene' - 'nuclear receptor coactivator 4' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' + 'nuclear receptor coactivator 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q11.2"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor coactivator 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor coactivator 4' SubClassOf 'Part of a fusion gene in' some 'Papillary or follicular thyroid carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_401964 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_268261 Label: 21q22.13q22.2 microdeletion syndrome - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 21' - '21q22.13q22.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '21q22.13q22.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 21' + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '21q22.13q22.2 microdeletion syndrome' SubClassOf 'malformation syndrome' + '21q22.13q22.2 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_251863 Label: Desmoplastic/nodular medulloblastoma - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'histopathological subtype' + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Desmoplastic/nodular medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_138386 Label: SRY (sex determining region Y)-box 3 - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked congenital generalized hypertrichosis' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' - 'SRY (sex determining region Y)-box 3' SubClassOf 'gene' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX testicular disorder of sex development' - 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with isolated growth hormone deficiency' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked congenital generalized hypertrichosis' + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Septo-optic dysplasia' + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq27.1"^^http://www.w3.org/2001/XMLSchema#string + 'SRY (sex determining region Y)-box 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some '46,XX testicular disorder of sex development' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Panhypopituitarism' + 'SRY (sex determining region Y)-box 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with isolated growth hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_209199 Label: Qualitative or quantitative defects of protein SERCA1 - 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_331747 Label: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'gene' - 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal dystonia, DYT25' + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "18p11.22-p11.21"^^http://www.w3.org/2001/XMLSchema#string + 'guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant focal dystonia, DYT25' Class: http://www.orpha.net/ORDO/Orphanet_331749 Label: core-binding factor, runt domain, alpha subunit 2; translocated to, 3 - 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' - 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'gene' + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf 'Part of a fusion gene in' some 'Acute megakaryoblastic leukemia without Down syndrome' + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'core-binding factor, runt domain, alpha subunit 2; translocated to, 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16q24"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138383 Label: LIM homeobox 4 - 'LIM homeobox 4' SubClassOf 'gene' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature - pituitary and cerebellar defects - small sella turcica' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' - 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' + 'LIM homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature - pituitary and cerebellar defects - small sella turcica' + 'LIM homeobox 4' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q25.3"^^http://www.w3.org/2001/XMLSchema#string + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pituitary stalk interruption syndrome' + 'LIM homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' Class: http://www.orpha.net/ORDO/Orphanet_209196 Label: Qualitative or quantitative defects of plectin - 'Qualitative or quantitative defects of plectin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of plectin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_300293 Label: Transient infantile hypertriglyceridemia and hepatosteatosis - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'disease' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parenchymatous liver disease' + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_209193 Label: Qualitative or quantitative defects of selenoprotein N1 - 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251855 Label: Anaplastic/large cell medulloblastoma - 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Anaplastic/large cell medulloblastoma' SubClassOf 'histopathological subtype' - 'Anaplastic/large cell medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' + 'Anaplastic/large cell medulloblastoma' SubClassOf 'histopathological subtype' + 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Anaplastic/large cell medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_66624 Label: PANDAS - 'PANDAS' SubClassOf 'has_inheritance' some 'sporadic' - 'PANDAS' SubClassOf 'disease' - 'PANDAS' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'PANDAS' SubClassOf 'has_prevalence' some 'Unknown' - 'PANDAS' SubClassOf 'part_of' some 'Postinfectious autoimmune disease with chorea' + 'PANDAS' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'PANDAS' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Postinfectious autoimmune disease with chorea' + 'PANDAS' SubClassOf 'disease' + 'PANDAS' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_251858 Label: Medulloblastoma with extensive nodularity - 'Medulloblastoma with extensive nodularity' SubClassOf 'has_inheritance' some 'sporadic' - 'Medulloblastoma with extensive nodularity' SubClassOf 'histopathological subtype' - 'Medulloblastoma with extensive nodularity' SubClassOf 'part_of' some 'Medulloblastoma' - 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Medulloblastoma with extensive nodularity' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Medulloblastoma with extensive nodularity' SubClassOf 'histopathological subtype' + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Medulloblastoma with extensive nodularity' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_300298 Label: Severe congenital hypochromic anemia with ringed sideroblasts - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'disease' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'part_of' some 'Constitutional anemia due to iron metabolism disorder' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'part_of' some 'Constitutional sideroblastic anemia' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional sideroblastic anemia' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Constitutional anemia due to iron metabolism disorder' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'disease' + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 Class: http://www.orpha.net/ORDO/Orphanet_66625 Label: Cerebro-oculo-nasal syndrome - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'malformation syndrome' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Cerebro-oculo-nasal syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Other syndrome with a central nervous system malformation as major feature' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Cerebro-oculo-nasal syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a central nervous system malformation as major feature' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Cerebro-oculo-nasal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66627 Label: Pigmented villonodular synovitis - 'Pigmented villonodular synovitis' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Pigmented villonodular synovitis' SubClassOf 'disease' + 'Pigmented villonodular synovitis' SubClassOf 'disease' + 'Pigmented villonodular synovitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_66628 Label: Obesity due to congenital leptin deficiency - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Obesity due to congenital leptin deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' - 'Obesity due to congenital leptin deficiency' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' - 'Obesity due to congenital leptin deficiency' SubClassOf 'disease' - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Obesity due to congenital leptin deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Obesity due to congenital leptin deficiency' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' + 'Obesity due to congenital leptin deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic non-syndromic obesity' + 'Obesity due to congenital leptin deficiency' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Obesity due to congenital leptin deficiency' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Obesity due to congenital leptin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251870 Label: Central nervous system primitive neuroectodermal tumor - 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'group of disorders' + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'group of disorders' + 'Central nervous system primitive neuroectodermal tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_66629 Label: Goldberg-Shprintzen megacolon syndrome - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'malformation syndrome' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Ptosis' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Orofacial clefting syndrome' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'malformation syndrome' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic intestinal malformation' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic anorectal malformation' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Ptosis' + 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_159200 Label: CD3e molecule, epsilon (CD3-TCR complex) - 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' - 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'gene' + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf 'Disease-causing germline mutation(s) in' some 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11q23"^^http://www.w3.org/2001/XMLSchema#string + 'CD3e molecule, epsilon (CD3-TCR complex)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401979 Label: Autosomal recessive spondylometaphyseal dysplasia, M�garban� type - 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Spondylodysplastic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_159207 Label: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'gene' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4J' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral parasagittal parieto-occipital polymicrogyria' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Yunis-Varon syndrome' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary lateral sclerosis' - 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 4J' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Yunis-Varon syndrome' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Bilateral parasagittal parieto-occipital polymicrogyria' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary lateral sclerosis' + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_401973 Label: MEND syndrome - 'MEND syndrome' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' - 'MEND syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'MEND syndrome' SubClassOf 'malformation syndrome' - 'MEND syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Sterol biosynthesis disorder' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'MEND syndrome' SubClassOf 'malformation syndrome' + 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_63442 Label: Angel-shaped phalango-epiphyseal dysplasia - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'part_of' some 'Acromelic dysplasia' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'malformation syndrome' + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acromelic dysplasia' + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209188 Label: Qualitative or quantitative defects of emerin - 'Qualitative or quantitative defects of emerin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of emerin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_63443 Label: Gastric cancer - 'Gastric cancer' SubClassOf 'has_inheritance' some 'sporadic' - 'Gastric cancer' SubClassOf 'has_prevalence' some 'Unknown' - 'Gastric cancer' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Gastric cancer' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Gastric cancer' SubClassOf 'group of disorders' + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "18.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Gastric cancer' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C032 value "11.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C030 value "49.17"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.9"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "24.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "7.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Gastric cancer' SubClassOf 'group of disorders' + 'Gastric cancer' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_63440 Label: Isolated oxycephaly - 'Isolated oxycephaly' SubClassOf 'morphological anomaly' - 'Isolated oxycephaly' SubClassOf 'part_of' some 'Isolated craniosynostosis' - 'Isolated oxycephaly' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Isolated oxycephaly' SubClassOf 'part_of' some 'Craniostenosis associated with a strabismus' - 'Isolated oxycephaly' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Isolated oxycephaly' SubClassOf 'has_inheritance' some 'sporadic' + 'Isolated oxycephaly' SubClassOf 'morphological anomaly' + 'Isolated oxycephaly' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Isolated oxycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Craniostenosis associated with a strabismus' + 'Isolated oxycephaly' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Isolated oxycephaly' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Isolated craniosynostosis' + 'Isolated oxycephaly' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_33276 Label: Kaposi's sarcoma - 'Kaposi's sarcoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Kaposi's sarcoma' SubClassOf 'part_of' some 'HHV-8 related disorders' - 'Kaposi's sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' - 'Kaposi's sarcoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Kaposi's sarcoma' SubClassOf 'disease' - 'Kaposi's sarcoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Kaposi's sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Soft tissue sarcoma' + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C030 value "2.11"^^http://www.w3.org/2001/XMLSchema#string) + 'Kaposi's sarcoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'HHV-8 related disorders' + 'Kaposi's sarcoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Kaposi's sarcoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Kaposi's sarcoma' SubClassOf 'disease' + 'Kaposi's sarcoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.34"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_209185 Label: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_209182 Label: Qualitative or quantitative defects of nebulin - 'Qualitative or quantitative defects of nebulin' SubClassOf 'group of disorders' + 'Qualitative or quantitative defects of nebulin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_66631 Label: CEDNIK syndrome - 'CEDNIK syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'CEDNIK syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'CEDNIK syndrome' SubClassOf 'disease' - 'CEDNIK syndrome' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal ichthyosis syndrome with fatal disease course' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' + 'CEDNIK syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'CEDNIK syndrome' SubClassOf 'disease' + 'CEDNIK syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'CEDNIK syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 Class: http://www.orpha.net/ORDO/Orphanet_300284 Label: Connective tissue disorder due to lysyl hydroxylase-3 deficiency - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Malformation syndrome with connective tissue involvement' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'disease' - 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'part_of' some 'Rare systemic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Malformation syndrome with connective tissue involvement' + 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251867 Label: Classic medulloblastoma - 'Classic medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Classic medulloblastoma' SubClassOf 'part_of' some 'Medulloblastoma' - 'Classic medulloblastoma' SubClassOf 'histopathological subtype' + 'Classic medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Medulloblastoma' + 'Classic medulloblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Classic medulloblastoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_66630 Label: Congenital pseudoarthrosis of clavicle - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'part_of' some 'Dysostosis of genetic origin' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'disease' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_prevalence' some 'Unknown' - 'Congenital pseudoarthrosis of clavicle' SubClassOf 'part_of' some 'Dysostosis' + 'Congenital pseudoarthrosis of clavicle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis' + 'Congenital pseudoarthrosis of clavicle' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Dysostosis of genetic origin' + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'disease' + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_66633 Label: Sensorineural hearing loss - early graying - essential tremor - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Rare genetic tremor disorder' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'malformation syndrome' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Rare tremor disorder' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'malformation syndrome' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare tremor disorder' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic genetic deafness' + 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic tremor disorder' Class: http://www.orpha.net/ORDO/Orphanet_119324 Label: corneodesmosin - 'corneodesmosin' SubClassOf 'gene' - 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peeling skin syndrome type B' - 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peeling skin syndrome type B' + 'corneodesmosin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotrichosis simplex of the scalp' + 'corneodesmosin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'corneodesmosin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_66634 Label: Dilated cardiomyopathy with ataxia - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_prevalence' some 'Unknown' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'part_of' some 'Syndrome associated with dilated cardiomyopathy' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'part_of' some '3-methylglutaconic aciduria' - 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some '3-methylglutaconic aciduria' + 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' + 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome associated with dilated cardiomyopathy' + 'Dilated cardiomyopathy with ataxia' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_401945 Label: Moyamoya disease with early-onset achalasia - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' - 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic gastro-esophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare gastroesophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare central nervous system and retinal vascular disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_401948 Label: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' - 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disease' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gluconeogenesis disorder' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disease' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disorder of branched-chain amino acid metabolism' Class: http://www.orpha.net/ORDO/Orphanet_120690 Label: collagen, type XI, alpha 1 - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall syndrome' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 2' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' - 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' - 'collagen, type XI, alpha 1' SubClassOf 'gene' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marshall syndrome' + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Fibrochondrogenesis' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 2' + 'collagen, type XI, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XI, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1p21"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_401942 Label: Familial median cleft of the upper and lower lips - 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Genetic head and neck malformation' - 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Median facial cleft' - 'Familial median cleft of the upper and lower lips' SubClassOf 'malformation syndrome' + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic head and neck malformation' + 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Median facial cleft' + 'Familial median cleft of the upper and lower lips' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90280 Label: Chilblain lupus - 'Chilblain lupus' SubClassOf 'part_of' some 'Genetic skin vascular disorder' - 'Chilblain lupus' SubClassOf 'disease' - 'Chilblain lupus' SubClassOf 'part_of' some 'Skin vascular disease' - 'Chilblain lupus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Skin vascular disease' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic skin vascular disorder' + 'Chilblain lupus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90281 Label: Discoid lupus erythematosus - 'Discoid lupus erythematosus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Discoid lupus erythematosus' SubClassOf 'disease' + 'Discoid lupus erythematosus' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.56"^^http://www.w3.org/2001/XMLSchema#string) + 'Discoid lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Discoid lupus erythematosus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138366 Label: fms-related tyrosine kinase 3 - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute biphenotypic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Minimally differentiated acute myeloblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' - 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' - 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' - 'fms-related tyrosine kinase 3' SubClassOf 'gene' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute biphenotypic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Minimally differentiated acute myeloblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia without maturation' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myelomonocytic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "13q12"^^http://www.w3.org/2001/XMLSchema#string + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloblastic leukemia with maturation' + 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' + 'fms-related tyrosine kinase 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'fms-related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'fms-related tyrosine kinase 3' SubClassOf 'Modifying somatic mutation in' some 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation' Class: http://www.orpha.net/ORDO/Orphanet_120698 Label: collagen, type XVII, alpha 1 - 'collagen, type XVII, alpha 1' SubClassOf 'gene' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' - 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset junctional epidermolysis bullosa' + 'collagen, type XVII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q24.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Localized junctional epidermolysis bullosa, non-Herlitz type' + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized junctional epidermolysis bullosa, non-Herlitz type' + 'collagen, type XVII, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XVII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset junctional epidermolysis bullosa' Class: http://www.orpha.net/ORDO/Orphanet_90285 Label: Lupus erythematosus panniculitis - 'Lupus erythematosus panniculitis' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Lupus erythematosus panniculitis' SubClassOf 'disease' + 'Lupus erythematosus panniculitis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.07"^^http://www.w3.org/2001/XMLSchema#string) + 'Lupus erythematosus panniculitis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Lupus erythematosus panniculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268249 Label: Mycophenolate mofetil embryopathy - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Mycophenolate mofetil embryopathy' SubClassOf 'part_of' some 'Toxic or drug-related embryofetopathy' - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Mycophenolate mofetil embryopathy' SubClassOf 'disease' - 'Mycophenolate mofetil embryopathy' SubClassOf 'has_inheritance' some 'sporadic' + 'Mycophenolate mofetil embryopathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Mycophenolate mofetil embryopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Toxic or drug-related embryofetopathy' + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Mycophenolate mofetil embryopathy' SubClassOf 'disease' + 'Mycophenolate mofetil embryopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_90282 Label: Hypertrophic or verrucous lupus erythematosus - 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'disease' - 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' + 'Hypertrophic or verrucous lupus erythematosus' SubClassOf 'disease' + 'Hypertrophic or verrucous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' Class: http://www.orpha.net/ORDO/Orphanet_120693 Label: collagen, type XI, alpha 2 - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otospondylomegaepiphyseal dysplasia' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 3' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' - 'collagen, type XI, alpha 2' SubClassOf 'gene' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weissenbacher- Zweymuller syndrome' - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fibrochondrogenesis' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Otospondylomegaepiphyseal dysplasia' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p21.3"^^http://www.w3.org/2001/XMLSchema#string + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stickler syndrome type 3' + 'collagen, type XI, alpha 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weissenbacher- Zweymuller syndrome' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_90283 Label: Lupus erythematosus tumidus - 'Lupus erythematosus tumidus' SubClassOf 'part_of' some 'Chronic cutaneous lupus erythematosus' - 'Lupus erythematosus tumidus' SubClassOf 'disease' + 'Lupus erythematosus tumidus' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Chronic cutaneous lupus erythematosus' + 'Lupus erythematosus tumidus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138361 Label: NLR family, pyrin domain containing 12 - 'NLR family, pyrin domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'NLRP12-associated hereditary periodic fever syndrome' - 'NLR family, pyrin domain containing 12' SubClassOf 'gene' + 'NLR family, pyrin domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "19q13.42"^^http://www.w3.org/2001/XMLSchema#string + 'NLR family, pyrin domain containing 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'NLRP12-associated hereditary periodic fever syndrome' + 'NLR family, pyrin domain containing 12' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_258631 Label: SPARC related modular calcium binding 1 - 'SPARC related modular calcium binding 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' - 'SPARC related modular calcium binding 1' SubClassOf 'gene' + 'SPARC related modular calcium binding 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'SPARC related modular calcium binding 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia with limb anomalies' + 'SPARC related modular calcium binding 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q24.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_258633 Label: anoctamin 6 - 'anoctamin 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scott syndrome' - 'anoctamin 6' SubClassOf 'gene' + 'anoctamin 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scott syndrome' + 'anoctamin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'anoctamin 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q12-q13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_210592 Label: Giant infantile hemangioma - 'Giant infantile hemangioma' SubClassOf 'group of disorders' + 'Giant infantile hemangioma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317366 Label: alpha- and gamma-adaptin binding protein - 'alpha- and gamma-adaptin binding protein' SubClassOf 'gene' - 'alpha- and gamma-adaptin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Punctate palmoplantar keratoderma type 1' + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q22.33-q23"^^http://www.w3.org/2001/XMLSchema#string + 'alpha- and gamma-adaptin binding protein' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Punctate palmoplantar keratoderma type 1' Class: http://www.orpha.net/ORDO/Orphanet_401959 Label: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'malformation syndrome' - 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Cerebral malformation with epilepsy' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120681 Label: cochlin - 'cochlin' SubClassOf 'gene' - 'cochlin' SubClassOf 'Major susceptibility factor in' some 'M�ni�re disease' - 'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'cochlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q11.2-q13"^^http://www.w3.org/2001/XMLSchema#string + 'cochlin' SubClassOf 'Major susceptibility factor in' some 'M�ni�re disease' + 'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'cochlin' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251852 Label: Embryonal tumor of the neuroepithelial tissue - 'Embryonal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' + 'Embryonal tumor of the neuroepithelial tissue' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401953 Label: Episodic ataxia with slurred speech - 'Episodic ataxia with slurred speech' SubClassOf 'part_of' some 'Hereditary episodic ataxia' - 'Episodic ataxia with slurred speech' SubClassOf 'disease' + 'Episodic ataxia with slurred speech' SubClassOf 'disease' + 'Episodic ataxia with slurred speech' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hereditary episodic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_120686 Label: component of oligomeric golgi complex 7 - 'component of oligomeric golgi complex 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG7-CDG' - 'component of oligomeric golgi complex 7' SubClassOf 'gene' + 'component of oligomeric golgi complex 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p12.2"^^http://www.w3.org/2001/XMLSchema#string + 'component of oligomeric golgi complex 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'COG7-CDG' + 'component of oligomeric golgi complex 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_90290 Label: CREST syndrome - 'CREST syndrome' SubClassOf 'part_of' some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' - 'CREST syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'CREST syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'CREST syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'CREST syndrome' SubClassOf 'clinical subtype' - 'CREST syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'CREST syndrome' SubClassOf 'part_of' some 'Systemic sclerosis' + 'CREST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic inflammatory disease associated with an acquired peripheral neuropathy' + 'CREST syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'CREST syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic sclerosis' + 'CREST syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.0"^^http://www.w3.org/2001/XMLSchema#string) + 'CREST syndrome' SubClassOf 'clinical subtype' + 'CREST syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'CREST syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_90291 Label: Systemic sclerosis - 'Systemic sclerosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Scleroderma' - 'Systemic sclerosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Systemic sclerosis' SubClassOf 'has_inheritance' some 'sporadic' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Systemic sclerosis' SubClassOf 'disease' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Systemic sclerosis' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic autoimmune disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C032 value "110.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Systemic sclerosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Systemic sclerosis' SubClassOf 'disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410066) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "13.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C032 value "204.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.6"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "27.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Scleroderma' + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410224) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "8.8"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410006) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "23.3"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C032 value "72.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare pulmonary disease' + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "30.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409980) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410198) and (http://www.orpha.net/ORDO/Orphanet_C032 value "230.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410076) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "15.4"^^http://www.w3.org/2001/XMLSchema#string) + 'Systemic sclerosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410031) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "44.3"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_120688 Label: collagen, type X, alpha 1 - 'collagen, type X, alpha 1' SubClassOf 'gene' - 'collagen, type X, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Schmid type' + 'collagen, type X, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'collagen, type X, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Schmid type' + 'collagen, type X, alpha 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6q21-q22"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_138376 Label: platelet-derived growth factor receptor, beta polypeptide - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRB rearrangement' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'gene' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' - 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Unclassified chronic myeloproliferative disease' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Myeloid neoplasm associated with PDGFRB rearrangement' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile myofibromatosis' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Idiopathic hypereosinophilic syndrome' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Chronic myelomonocytic leukemia' + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q33.1"^^http://www.w3.org/2001/XMLSchema#string + 'platelet-derived growth factor receptor, beta polypeptide' SubClassOf 'Part of a fusion gene in' some 'Unclassified chronic myeloproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_90287 Label: Maculopapular lupus rash - 'Maculopapular lupus rash' SubClassOf 'disease' - 'Maculopapular lupus rash' SubClassOf 'part_of' some 'Acute cutaneous lupus erythematosus' + 'Maculopapular lupus rash' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute cutaneous lupus erythematosus' + 'Maculopapular lupus rash' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90289 Label: Localized scleroderma - 'Localized scleroderma' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Localized scleroderma' SubClassOf 'part_of' some 'Scleroderma' - 'Localized scleroderma' SubClassOf 'disease' - 'Localized scleroderma' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Localized scleroderma' SubClassOf 'has_inheritance' some 'sporadic' + 'Localized scleroderma' SubClassOf 'disease' + 'Localized scleroderma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Scleroderma' + 'Localized scleroderma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Localized scleroderma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Localized scleroderma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) Class: http://www.orpha.net/ORDO/Orphanet_231494 Label: tumor necrosis factor receptor superfamily, member 13C - 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'gene' + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13.1-q13.3"^^http://www.w3.org/2001/XMLSchema#string + 'tumor necrosis factor receptor superfamily, member 13C' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_119300 Label: cyclin-dependent kinase inhibitor 1C (p57, Kip2) - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to a point mutation' - 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'IMAGe syndrome' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Silver-Russell syndrome due to a point mutation' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'IMAGe syndrome' Class: http://www.orpha.net/ORDO/Orphanet_317358 Label: host cell factor C1 - 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' - 'host cell factor C1' SubClassOf 'gene' - 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblX' + 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'host cell factor C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "Xq28"^^http://www.w3.org/2001/XMLSchema#string + 'host cell factor C1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Methylmalonic acidemia with homocystinuria, type cblX' + 'host cell factor C1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_325351 Label: 46,XY disorder of sex development of endocrine origin - '46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' + '46,XY disorder of sex development of endocrine origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_356638 Label: immunoglobulin heavy variable 4-34 - 'immunoglobulin heavy variable 4-34' SubClassOf 'gene' - 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia' - 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia variant' + 'immunoglobulin heavy variable 4-34' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.33"^^http://www.w3.org/2001/XMLSchema#string + 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia' + 'immunoglobulin heavy variable 4-34' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia variant' Class: http://www.orpha.net/ORDO/Orphanet_325357 Label: 46,XY disorder of sex development due to impaired androgen production - '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'group of disorders' + '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119306 Label: cyclin-dependent kinase inhibitor 2A - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melanoma and neural system tumor syndrome' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'gene' - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Melanoma-pancreatic cancer syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Melanoma and neural system tumor syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial pancreatic carcinoma' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'cyclin-dependent kinase inhibitor 2A' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p21"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atypical multiple mole melanoma syndrome' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Precursor B-cell acute lymphoblastic leukemia' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Melanoma-pancreatic cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251899 Label: Choroid plexus carcinoma - 'Choroid plexus carcinoma' SubClassOf 'part_of' some 'Choroid plexus tumor' - 'Choroid plexus carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Choroid plexus carcinoma' SubClassOf 'disease' - 'Choroid plexus carcinoma' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Choroid plexus carcinoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Choroid plexus tumor' + 'Choroid plexus carcinoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) + 'Choroid plexus carcinoma' SubClassOf 'disease' + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C027 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C030 value "0.35"^^http://www.w3.org/2001/XMLSchema#string) + 'Choroid plexus carcinoma' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409979) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.01"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_361085 Label: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa - 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'gene' - 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "17q11.1-q11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_371844 Label: solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'gene' - 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 6' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oculocutaneous albinism type 6' + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 5' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q21.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_317387 Label: calmodulin 1 (phosphorylase kinase, delta) - 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'gene' + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "14q32.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178509 Label: Perry syndrome - 'Perry syndrome' SubClassOf 'disease' - 'Perry syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Perry syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Perry syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Perry syndrome' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Perry syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Perry syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Perry syndrome' SubClassOf 'disease' + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Perry syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Perry syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parkinsonian syndrome due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_377496 Label: LYR motif containing 7 - 'LYR motif containing 7' SubClassOf 'gene' - 'LYR motif containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'LYR motif containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'LYR motif containing 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' + 'LYR motif containing 7' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_231466 Label: Acute sensory ataxic neuropathy - 'Acute sensory ataxic neuropathy' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Acute sensory ataxic neuropathy' SubClassOf 'disease' - 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some 'sporadic' + 'Acute sensory ataxic neuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' + 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Acute sensory ataxic neuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Acute sensory ataxic neuropathy' SubClassOf 'disease' + 'Acute sensory ataxic neuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 Class: http://www.orpha.net/ORDO/Orphanet_312680 Label: branched chain ketoacid dehydrogenase kinase - 'branched chain ketoacid dehydrogenase kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' - 'branched chain ketoacid dehydrogenase kinase' SubClassOf 'gene' + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'branched chain ketoacid dehydrogenase kinase' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p11.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_178506 Label: Brain calcification, Rajab type - 'Brain calcification, Rajab type' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Brain calcification, Rajab type' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Brain calcification, Rajab type' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Brain calcification, Rajab type' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Brain calcification, Rajab type' SubClassOf 'disease' + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare neurologic disease' + 'Brain calcification, Rajab type' SubClassOf 'disease' + 'Brain calcification, Rajab type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Brain calcification, Rajab type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic neurological disorder' + 'Brain calcification, Rajab type' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) Class: http://www.orpha.net/ORDO/Orphanet_54370 Label: Primary membranoproliferative glomerulonephritis - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "16.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_201770 Label: activating transcription factor 1 - 'activating transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' - 'activating transcription factor 1' SubClassOf 'gene' + 'activating transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "12q13"^^http://www.w3.org/2001/XMLSchema#string + 'activating transcription factor 1' SubClassOf 'Part of a fusion gene in' some 'Melanoma of soft parts' + 'activating transcription factor 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_307871 Label: Disease with focal palmoplantar keratoderma as a major feature - 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' + 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_269879 Label: surfactant protein A2 - 'surfactant protein A2' SubClassOf 'gene' - 'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string + 'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis' + 'surfactant protein A2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_163703 Label: Febrile infection-related epilepsy syndrome - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Febrile infection-related epilepsy syndrome' SubClassOf 'disease' + 'Febrile infection-related epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Febrile infection-related epilepsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410073) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Febrile infection-related epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Febrile infection-related epilepsy syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "1.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Febrile infection-related epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Febrile infection-related epilepsy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254698 Label: Epithelioid trophoblastic tumor - 'Epithelioid trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Epithelioid trophoblastic tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Epithelioid trophoblastic tumor' SubClassOf 'disease' - 'Epithelioid trophoblastic tumor' SubClassOf 'part_of' some 'Gestational trophoblastic neoplasm' - 'Epithelioid trophoblastic tumor' SubClassOf 'has_prevalence' some 'Unknown' + 'Epithelioid trophoblastic tumor' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Epithelioid trophoblastic tumor' SubClassOf 'disease' + 'Epithelioid trophoblastic tumor' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Epithelioid trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Gestational trophoblastic neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_2700 Label: Noma - 'Noma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Noma' SubClassOf 'disease' - 'Noma' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Noma' SubClassOf 'has_prevalence' some 'Unknown' + 'Noma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare bacterial infectious disease' + 'Noma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Noma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2701 Label: Noonan syndrome-like disorder with loose anagen hair - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'malformation syndrome' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Alopecia' - 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'part_of' some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Noonan syndrome and Noonan-related syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'malformation syndrome' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic developmental defect of the eye' + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_317382 Label: potassium channel, subfamily T, member 1 - 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' - 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' - 'potassium channel, subfamily T, member 1' SubClassOf 'gene' + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'potassium channel, subfamily T, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q34.3"^^http://www.w3.org/2001/XMLSchema#string + 'potassium channel, subfamily T, member 1' SubClassOf http://www.orpha.net/ORDO/Orphanet_410296 some 'Malignant migrating partial seizures of infancy' Class: http://www.orpha.net/ORDO/Orphanet_163708 Label: Cryptogenic late-onset epileptic spasms - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Cryptogenic late-onset epileptic spasms' SubClassOf 'disease' + 'Cryptogenic late-onset epileptic spasms' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Cryptogenic late-onset epileptic spasms' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Cryptogenic late-onset epileptic spasms' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254693 Label: Partial hydatidiform mole - 'Partial hydatidiform mole' SubClassOf 'has_prevalence' some 'Unknown' - 'Partial hydatidiform mole' SubClassOf 'clinical subtype' - 'Partial hydatidiform mole' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Partial hydatidiform mole' SubClassOf 'part_of' some 'Hydatidiform mole' - 'Partial hydatidiform mole' SubClassOf 'has_inheritance' some 'sporadic' + 'Partial hydatidiform mole' SubClassOf 'clinical subtype' + 'Partial hydatidiform mole' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Hydatidiform mole' + 'Partial hydatidiform mole' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Partial hydatidiform mole' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_355507 Label: interleukin 2 receptor, beta - 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' - 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' - 'interleukin 2 receptor, beta' SubClassOf 'gene' + 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Juvenile rheumatoid factor-negative polyarthritis' + 'interleukin 2 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 2 receptor, beta' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile arthritis' + 'interleukin 2 receptor, beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "22q13"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_284155 Label: interleukin 11 receptor, alpha - 'interleukin 11 receptor, alpha' SubClassOf 'gene' - 'interleukin 11 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis and dental anomalies' + 'interleukin 11 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9p13"^^http://www.w3.org/2001/XMLSchema#string + 'interleukin 11 receptor, alpha' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'interleukin 11 receptor, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniosynostosis and dental anomalies' Class: http://www.orpha.net/ORDO/Orphanet_178512 Label: Folliculotropic mycosis fungoides - 'Folliculotropic mycosis fungoides' SubClassOf 'disease' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_inheritance' some 'sporadic' - 'Folliculotropic mycosis fungoides' SubClassOf 'part_of' some 'Mycosis fungoides and variants' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Folliculotropic mycosis fungoides' SubClassOf 'has_prevalence' some 'Unknown' + 'Folliculotropic mycosis fungoides' SubClassOf 'disease' + 'Folliculotropic mycosis fungoides' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Folliculotropic mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Mycosis fungoides and variants' + 'Folliculotropic mycosis fungoides' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_54368 Label: Sarcocystosis - 'Sarcocystosis' SubClassOf 'part_of' some 'Rare parasitic disease' - 'Sarcocystosis' SubClassOf 'disease' + 'Sarcocystosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare parasitic disease' + 'Sarcocystosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_361071 Label: nuclear receptor subfamily 4, group A, member 3 - 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' - 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'gene' + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "9q22"^^http://www.w3.org/2001/XMLSchema#string + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'nuclear receptor subfamily 4, group A, member 3' SubClassOf 'Part of a fusion gene in' some 'Extraskeletal myxoid chondrosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_85436 Label: Juvenile psoriatic arthritis - 'Juvenile psoriatic arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Juvenile psoriatic arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Juvenile psoriatic arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile psoriatic arthritis' SubClassOf 'disease' + 'Juvenile psoriatic arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) + 'Juvenile psoriatic arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Juvenile psoriatic arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile psoriatic arthritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85435 Label: Juvenile rheumatoid factor-positive polyarthritis - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'disease' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'part_of' some 'Juvenile polyarthritis' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'disease' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile polyarthritis' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.2"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85438 Label: Enthesitis-related arthritis - 'Enthesitis-related arthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' - 'Enthesitis-related arthritis' SubClassOf 'malformation syndrome' - 'Enthesitis-related arthritis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Enthesitis-related arthritis' SubClassOf 'part_of' some 'Systemic diseases with anterior uveitis' - 'Enthesitis-related arthritis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Enthesitis-related arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Systemic diseases with anterior uveitis' + 'Enthesitis-related arthritis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + 'Enthesitis-related arthritis' SubClassOf 'malformation syndrome' + 'Enthesitis-related arthritis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "5.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Enthesitis-related arthritis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Juvenile idiopathic arthritis' + 'Enthesitis-related arthritis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 Class: http://www.orpha.net/ORDO/Orphanet_163721 Label: Rolandic epilepsy - speech dyspraxia - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'disease' - 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'X-linked syndromic intellectual disability' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Rolandic epilepsy - speech dyspraxia' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284160 Label: 8q21.11 microdeletion syndrome - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 8' - '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '8q21.11 microdeletion syndrome' SubClassOf 'malformation syndrome' - '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - '8q21.11 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '8q21.11 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + '8q21.11 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '8q21.11 microdeletion syndrome' SubClassOf 'malformation syndrome' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the long arm of chromosome 8' + '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic intellectual disability with developmental anomaly' + '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '8q21.11 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_406905 Label: KIAA0226 - 'KIAA0226' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' - 'KIAA0226' SubClassOf 'gene' + 'KIAA0226' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'KIAA0226' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' + 'KIAA0226' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "3q29"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_85442 Label: Short stature - pituitary and cerebellar defects - small sella turcica - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'disease' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409991) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'disease' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_85443 Label: AL amyloidosis - 'AL amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'AL amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'AL amyloidosis' SubClassOf 'disease' - 'AL amyloidosis' SubClassOf 'part_of' some 'Plasma cell tumor' - 'AL amyloidosis' SubClassOf 'part_of' some 'Rare familial disorder with hypertrophic cardiomyopathy' - 'AL amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'AL amyloidosis' SubClassOf 'part_of' some 'Acquired amyloid peripheral neuropathy' - 'AL amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired amyloid peripheral neuropathy' + 'AL amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410225) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.9"^^http://www.w3.org/2001/XMLSchema#string) + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Plasma cell tumor' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'AL amyloidosis' SubClassOf 'disease' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare familial disorder with hypertrophic cardiomyopathy' + 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'AL amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) and (http://www.orpha.net/ORDO/Orphanet_C028 value "11.0"^^http://www.w3.org/2001/XMLSchema#string) + 'AL amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_163717 Label: Benign familial mesial temporal lobe epilepsy - 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'disease' + 'Benign familial mesial temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial partial epilepsy' + 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85445 Label: Secondary amyloidosis - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Secondary amyloidosis' SubClassOf 'disease' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' - 'Secondary amyloidosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' - 'Secondary amyloidosis' SubClassOf 'part_of' some 'Acquired amyloid peripheral neuropathy' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Non-familial restrictive cardiomyopathy' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Acquired amyloid peripheral neuropathy' + 'Secondary amyloidosis' SubClassOf 'disease' + 'Secondary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Secondary amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Secondary amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409975) Class: http://www.orpha.net/ORDO/Orphanet_284169 Label: 10p11.21p12.31 microdeletion syndrome - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some 'sporadic' - '10p11.21p12.31 microdeletion syndrome' SubClassOf 'malformation syndrome' + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409939 + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Partial deletion of the short arm of chromosome 10' + '10p11.21p12.31 microdeletion syndrome' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409979) + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + '10p11.21p12.31 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138359 Label: NME/NM23 family member 8 - 'NME/NM23 family member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'NME/NM23 family member 8' SubClassOf 'gene' + 'NME/NM23 family member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'NME/NM23 family member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "7p15.2"^^http://www.w3.org/2001/XMLSchema#string + 'NME/NM23 family member 8' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_317370 Label: peroxisomal biogenesis factor 11 beta - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' - 'peroxisomal biogenesis factor 11 beta' SubClassOf 'gene' + 'peroxisomal biogenesis factor 11 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "1q21"^^http://www.w3.org/2001/XMLSchema#string + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neonatal adrenoleukodystrophy' + 'peroxisomal biogenesis factor 11 beta' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zellweger syndrome' + 'peroxisomal biogenesis factor 11 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile Refsum disease' Class: http://www.orpha.net/ORDO/Orphanet_276525 Label: Familial hyperinsulinism - 'Familial hyperinsulinism' SubClassOf 'group of disorders' + 'Familial hyperinsulinism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_317373 Label: leucine rich repeat containing 6 - 'leucine rich repeat containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' - 'leucine rich repeat containing 6' SubClassOf 'gene' + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Primary ciliary dyskinesia' + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "8q24"^^http://www.w3.org/2001/XMLSchema#string + 'leucine rich repeat containing 6' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_406901 Label: tyrosyl-DNA phosphodiesterase 2 - 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'gene' - 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "6p22.3-p22.1"^^http://www.w3.org/2001/XMLSchema#string + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' Class: http://www.orpha.net/ORDO/Orphanet_123393 Label: adenomatous polyposis coli - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'APC-related attenuated familial adenomatous polyposis' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gardner syndrome' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Turcot syndrome with polyposis' - 'adenomatous polyposis coli' SubClassOf 'Role in the phenotype of' some 'Familial adenomatous polyposis due to 5q22.2 microdeletion' - 'adenomatous polyposis coli' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' - 'adenomatous polyposis coli' SubClassOf 'gene' + 'adenomatous polyposis coli' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "5q21-q22"^^http://www.w3.org/2001/XMLSchema#string + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'APC-related attenuated familial adenomatous polyposis' + 'adenomatous polyposis coli' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gardner syndrome' + 'adenomatous polyposis coli' SubClassOf 'Disease-causing germline mutation(s) in' some 'Turcot syndrome with polyposis' + 'adenomatous polyposis coli' SubClassOf 'Role in the phenotype of' some 'Familial adenomatous polyposis due to 5q22.2 microdeletion' + 'adenomatous polyposis coli' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Desmoid tumor' Class: http://www.orpha.net/ORDO/Orphanet_371861 Label: Genetic hyperaldosteronism - 'Genetic hyperaldosteronism' SubClassOf 'group of disorders' + 'Genetic hyperaldosteronism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251877 Label: Ganglioneuroblastoma - 'Ganglioneuroblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Ganglioneuroblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ganglioneuroblastoma' SubClassOf 'disease' + 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Ganglioneuroblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Ganglioneuroblastoma' SubClassOf 'disease' + 'Ganglioneuroblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 Class: http://www.orpha.net/ORDO/Orphanet_231445 Label: Paraparetic variant of Guillain-Barr� syndrome - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'part_of' some 'Functional variant of Guillain-Barr� syndrome' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'disease' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409931 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'disease' + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Paraparetic variant of Guillain-Barr� syndrome' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Functional variant of Guillain-Barr� syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85448 Label: Familial amyloidosis, Finnish type - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Rare hereditary systemic disease with peripheral neuropathy' - 'Familial amyloidosis, Finnish type' SubClassOf 'disease' - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Amyloidosis' - 'Familial amyloidosis, Finnish type' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial amyloidosis, Finnish type' SubClassOf 'disease' + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409930 + 'Familial amyloidosis, Finnish type' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial amyloidosis, Finnish type' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_85447 Label: Familial amyloid polyneuropathy - 'Familial amyloid polyneuropathy' SubClassOf 'disease' - 'Familial amyloid polyneuropathy' SubClassOf 'part_of' some 'Familial transthyretin-related amyloidosis' - 'Familial amyloid polyneuropathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Familial amyloid polyneuropathy' SubClassOf 'part_of' some 'Rare hereditary systemic disease with peripheral neuropathy' - 'Familial amyloid polyneuropathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial amyloid polyneuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial amyloid polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial transthyretin-related amyloidosis' + 'Familial amyloid polyneuropathy' SubClassOf 'disease' + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C032 value "0.69"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410049) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "3.7"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Familial amyloid polyneuropathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial amyloid polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare hereditary systemic disease with peripheral neuropathy' + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410102) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409976) and (http://www.orpha.net/ORDO/Orphanet_C028 value "0.1"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410169) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "90.0"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C020 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C032 value "3.75"^^http://www.w3.org/2001/XMLSchema#string) + 'Familial amyloid polyneuropathy' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_410204) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409978) and (http://www.orpha.net/ORDO/Orphanet_C028 value "97.5"^^http://www.w3.org/2001/XMLSchema#string) Class: http://www.orpha.net/ORDO/Orphanet_85446 Label: Dialysis-related amyloidosis - 'Dialysis-related amyloidosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Dialysis-related amyloidosis' SubClassOf 'disease' - 'Dialysis-related amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Dialysis-related amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Dialysis-related amyloidosis' SubClassOf 'has_inheritance' some 'sporadic' + 'Dialysis-related amyloidosis' SubClassOf (http://www.orpha.net/ORDO/Orphanet_C022 some http://www.orpha.net/ORDO/Orphanet_409984) and (http://www.orpha.net/ORDO/Orphanet_C025 some http://www.orpha.net/ORDO/Orphanet_409977) and (http://www.orpha.net/ORDO/Orphanet_C028 value "4.5"^^http://www.w3.org/2001/XMLSchema#string) + 'Dialysis-related amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Dialysis-related amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Dialysis-related amyloidosis' SubClassOf 'disease' + 'Dialysis-related amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 Class: http://www.orpha.net/ORDO/Orphanet_163727 Label: Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp - 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'disease' + 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Childhood-onset epilepsy syndrome' + 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85453 Label: X-linked reticulate pigmentary disorder with systemic manifestations - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Rare systemic disease' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'disease' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Syndromic corneal dystrophy' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare genetic systemic or rheumatologic disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'disease' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic hyperpigmentation of the skin' + 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Rare systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_85451 Label: Transthyretin-related familial amyloid cardiomyopathy - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'disease' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'part_of' some 'Familial transthyretin-related amyloidosis' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'disease' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409948 + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial transthyretin-related amyloidosis' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_85450 Label: Familial renal amyloidosis - 'Familial renal amyloidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Genetic glomerular disease' - 'Familial renal amyloidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' - 'Familial renal amyloidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial renal amyloidosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Familial renal amyloidosis' SubClassOf 'disease' + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Genetic glomerular disease' + 'Familial renal amyloidosis' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409929 + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Amyloidosis' + 'Familial renal amyloidosis' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409950 + 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Secondary glomerular disease' + 'Familial renal amyloidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251883 Label: Medulloepithelioma - 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Medulloepithelioma' SubClassOf 'has_inheritance' some 'sporadic' - 'Medulloepithelioma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Medulloepithelioma' SubClassOf 'disease' + 'Medulloepithelioma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' + 'Medulloepithelioma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409946 + 'Medulloepithelioma' SubClassOf 'disease' + 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 Class: http://www.orpha.net/ORDO/Orphanet_404774 Label: presequence translocase-associated motor 16 homolog (S. cerevisiae) - 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' - 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'gene' + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_304263 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 17 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'gene' - 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295 some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_C040 value "15q24"^^http://www.w3.org/2001/XMLSchema#string + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 Class: http://www.orpha.net/ORDO/Orphanet_251880 Label: Ependymoblastoma - 'Ependymoblastoma' SubClassOf 'has_inheritance' some 'sporadic' - 'Ependymoblastoma' SubClassOf 'disease' - 'Ependymoblastoma' SubClassOf 'part_of' some 'Central nervous system primitive neuroectodermal tumor' - 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409945 + 'Ependymoblastoma' SubClassOf 'disease' + 'Ependymoblastoma' SubClassOf 'has_inheritance' some http://www.orpha.net/ORDO/Orphanet_409941 + 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some http://www.orpha.net/ORDO/Orphanet_409944 + 'Ependymoblastoma' SubClassOf http://purl.obolibrary.org/obo/http://www.obofoundry.org/ro/ro.owl#part_of some 'Central nervous system primitive neuroectodermal tumor' Class: http://www.orpha.net/ORDO/Orphanet_365159 Label: seryl-tRNA synthetase 2, mitochondrial - 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene' - 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' + 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410298 + 'seryl-tRNA synthetase 2, mitochondrial' SubClassOf http://www.orpha.net/ORDO/Orphanet_410295