Ontology Diff Summary Diff date: 2024/07/03 08:42:56 First ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/last_version/ORDO_en_4.4.owl Second ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/ORDO_ok/ORDO_en_4.5.owl Number of classes changed: 342 Number of classes added: 174 Number of classes deleted: 15 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_458827 Label(s): Vascular tumor with associated anomalies - 'Vascular tumor with associated anomalies' SubClassOf 'Rare vascular tumor' - 'Vascular tumor with associated anomalies' SubClassOf 'group of disorders' + 'Vascular tumor with associated anomalies' SubClassOf 'obsolete group of disorder' + 'Vascular tumor with associated anomalies' SubClassOf 'Referred to' some 'Rare vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_464329 Label(s): Kaposiform lymphangiomatosis - 'Kaposiform lymphangiomatosis' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Kaposiform lymphangiomatosis' SubClassOf 'part_of' some 'Rare lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_464318 Label(s): Verrucous hemangioma - 'Verrucous hemangioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Verrucous hemangioma' SubClassOf 'part_of' some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_120648 Label(s): CLN8 transmembrane ER and ERGIC protein - 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE : CLN8 disease' Class: http://www.orpha.net/ORDO/Orphanet_120643 Label(s): CLN6 transmembrane ER protein - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN6 disease' Class: http://www.orpha.net/ORDO/Orphanet_120641 Label(s): CLN5 intracellular trafficking protein - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' + 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_509080 Label(s): interleukin 6 cytokine family signal transducer - 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency' - 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Stüve-Wiedemann syndrome' - 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' + 'interleukin 6 cytokine family signal transducer' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120638 Label(s): CLN3 lysosomal/endosomal transmembrane protein, battenin - 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN3 disease' Class: http://www.orpha.net/ORDO/Orphanet_1680 Label(s): OBSOLETE: Spastic diplegia, infantile type + 'OBSOLETE: Spastic diplegia, infantile type' SubClassOf 'Referred to' some 'Rare movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_509088 Label(s): Janus kinase 1 + 'Janus kinase 1' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_667662 Class: http://www.orpha.net/ORDO/Orphanet_458775 Label(s): Congenital hemangioma - 'Congenital hemangioma' SubClassOf 'Rare vascular tumor' + 'Congenital hemangioma' SubClassOf http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_169142 Label(s): Recurrent infection due to specific granule deficiency - 'Recurrent infection due to specific granule deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Recurrent infection due to specific granule deficiency' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_458758 Label(s): Composite hemangioendothelioma - 'Composite hemangioendothelioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Composite hemangioendothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673473 Class: http://www.orpha.net/ORDO/Orphanet_140436 Label(s): Primary intraosseous venous malformation - 'Primary intraosseous venous malformation' SubClassOf 'part_of' some 'Infantile hemangioma of rare localization' + 'Primary intraosseous venous malformation' SubClassOf 'part_of' some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_656273 Label(s): Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'disorder' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic autonomic nervous system disorder' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'Clinical syndrome' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare autonomic nervous system disorder' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'obsolete disorder' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'Referred to' some 'Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_464297 Label(s): LEM domain nuclear envelope protein 2 + 'LEM domain nuclear envelope protein 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_659873 Class: http://www.orpha.net/ORDO/Orphanet_120593 Label(s): zinc finger E-box binding homeobox 2 + 'zinc finger E-box binding homeobox 2' SubClassOf 'part of a fusion gene in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_309239 Label(s): OBSELETE:Tay-Sachs disease, B1 variant + 'OBSELETE:Tay-Sachs disease, B1 variant' SubClassOf 'Referred to' some 'Tay-Sachs disease' Class: http://www.orpha.net/ORDO/Orphanet_286593 Label(s): complement factor H related 3 - 'complement factor H related 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_244395 Label(s): BMP binding endothelial regulator - 'BMP binding endothelial regulator' SubClassOf 'disease-causing germline mutation(s) in' some 'Ischiovertebral syndrome' Class: http://www.orpha.net/ORDO/Orphanet_255225 Label(s): OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy + 'OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'Referred to' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' Class: http://www.orpha.net/ORDO/Orphanet_122727 Label(s): Janus kinase 2 + 'Janus kinase 2' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_667662 Class: http://www.orpha.net/ORDO/Orphanet_286578 Label(s): complement factor H related 1 - 'complement factor H related 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_228343 Label(s): OBSOLETE: CLN4B disease - 'OBSOLETE: CLN4B disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN4B disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN4B disease' SubClassOf 'disease' + 'OBSOLETE: CLN4B disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'OBSOLETE: CLN4B disease' SubClassOf 'disorder' + 'OBSOLETE: CLN4B disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_324625 Label(s): Chikungunya - 'Chikungunya' SubClassOf 'part_of' some 'Arbovirus fever' + 'Chikungunya' SubClassOf 'part_of' some 'Infectious encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_225 Label(s): Maternally-inherited diabetes and deafness - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Maternally-inherited diabetes and deafness' SubClassOf 'disorder' - 'Maternally-inherited diabetes and deafness' SubClassOf 'disease' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited diabetes and deafness' SubClassOf 'part_of' some 'Other rare diabetes mellitus' + 'Maternally-inherited diabetes and deafness' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_1865 Label(s): Dyssegmental dysplasia, Silverman-Handmaker type - 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'part_of' some 'Perlecan-related bone disorder' + 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_1062 Label(s): Hereditary neurocutaneous malformation - 'Hereditary neurocutaneous malformation' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Hereditary neurocutaneous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_1063 Label(s): Tufted angioma - 'Tufted angioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Tufted angioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_169095 Label(s): Severe combined immunodeficiency due to FOXN1 deficiency - 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to absence of thymus' + 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_141330 Label(s): Orofaciodigital syndrome type 13 - 'Orofaciodigital syndrome type 13' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 13' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 13' SubClassOf 'disorder' + 'Orofaciodigital syndrome type 13' SubClassOf 'obsolete disorder' + 'Orofaciodigital syndrome type 13' SubClassOf 'Referred to' some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2122 Label(s): Kaposiform hemangioendothelioma - 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Kaposiform hemangioendothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673473 Class: http://www.orpha.net/ORDO/Orphanet_217059 Label(s): Isolated congenital digital clubbing - 'Isolated congenital digital clubbing' SubClassOf 'part_of' some 'Joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_317476 Label(s): X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664456 Class: http://www.orpha.net/ORDO/Orphanet_188809 Label(s): synaptic Ras GTPase activating protein 1 - 'synaptic Ras GTPase activating protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_84090 Label(s): Fibronectin glomerulopathy - 'Fibronectin glomerulopathy' SubClassOf 'part_of' some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Fibronectin glomerulopathy' SubClassOf 'part_of' some 'Glomerular disease' + 'Fibronectin glomerulopathy' SubClassOf 'part_of' some 'Genetic glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label(s): OBSOLETE: CLN5 disease - 'OBSOLETE: CLN5 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN5 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN5 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN5 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'OBSOLETE: CLN5 disease' SubClassOf 'disease' + 'OBSOLETE: CLN5 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_314629 Label(s): OBSOLETE: CLN11 disease - 'OBSOLETE: CLN11 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN11 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN11 disease' SubClassOf 'disease' + 'OBSOLETE: CLN11 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN11 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN11 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_440731 Label(s): L-ferritin deficiency + 'L-ferritin deficiency' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_358708 Label(s): heterogeneous nuclear ribonucleoprotein H1 - 'heterogeneous nuclear ribonucleoprotein H1' SubClassOf 'part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia' + 'heterogeneous nuclear ribonucleoprotein H1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_662207 Class: http://www.orpha.net/ORDO/Orphanet_538931 Label(s): X-linked lymphoproliferative disease due to SH2D1A deficiency + 'X-linked lymphoproliferative disease due to SH2D1A deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_123221 Label(s): midline 1 - 'midline 1' SubClassOf 'has_chromosomal location' value "Xp22" + 'midline 1' SubClassOf 'has_chromosomal location' value "Xp22.2" Class: http://www.orpha.net/ORDO/Orphanet_119953 Label(s): T-box transcription factor 1 + 'T-box transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Truncus arteriosus' Class: http://www.orpha.net/ORDO/Orphanet_121089 Label(s): DISC1 scaffold protein - 'DISC1 scaffold protein' SubClassOf 'candidate gene tested in' some 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' - 'DISC1 scaffold protein' SubClassOf 'gene with protein product' - 'DISC1 scaffold protein' SubClassOf 'has_chromosomal location' value "1q42.2" Class: http://www.orpha.net/ORDO/Orphanet_120380 Label(s): UDP glucuronosyltransferase family 1 member A1 - 'UDP glucuronosyltransferase family 1 member A1' SubClassOf 'gene with protein product' + 'UDP glucuronosyltransferase family 1 member A1' SubClassOf 'disorder-associated locus' Class: http://www.orpha.net/ORDO/Orphanet_1987 Label(s): Femoral agenesis/hypoplasia - 'Femoral agenesis/hypoplasia' SubClassOf 'malformation syndrome' + 'Femoral agenesis/hypoplasia' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_292693 Label(s): KiSS-1 metastasis suppressor - 'KiSS-1 metastasis suppressor' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic central precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_274222 Label(s): GATA binding protein 2 - 'GATA binding protein 2' SubClassOf 'major susceptibility factor in' some 'Deafness-lymphedema-leukemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457688 Label(s): EPH receptor A4 - 'EPH receptor A4' SubClassOf 'candidate gene tested in' some 'Amyotrophic lateral sclerosis' - 'EPH receptor A4' SubClassOf 'has_chromosomal location' value "2q36.1" - 'EPH receptor A4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_84087 Label(s): Collagen type III glomerulopathy - 'Collagen type III glomerulopathy' SubClassOf 'part_of' some 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Collagen type III glomerulopathy' SubClassOf 'part_of' some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_542301 Label(s): Combined immunodeficiency due to CARMIL2 deficiency - 'Combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664456 Class: http://www.orpha.net/ORDO/Orphanet_84064 Label(s): Syndromic diarrhea - 'Syndromic diarrhea' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_291819 Label(s): enhancer of zeste 2 polycomb repressive complex 2 subunit + 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_659387 Class: http://www.orpha.net/ORDO/Orphanet_476102 Label(s): Hereditary pediatric Behçet-like disease - 'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' - 'Hereditary pediatric Behçet-like disease' SubClassOf 'disease' - 'Hereditary pediatric Behçet-like disease' SubClassOf 'disorder' - 'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome of childhood' - 'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'Hereditary pediatric Behçet-like disease' SubClassOf 'obsolete disorder' + 'Hereditary pediatric Behçet-like disease' SubClassOf 'Referred to' some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168816 Label(s): Peritoneal cystic mesothelioma - 'Peritoneal cystic mesothelioma' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' + 'Peritoneal cystic mesothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_676030 Class: http://www.orpha.net/ORDO/Orphanet_3453 Label(s): Autoimmune polyendocrinopathy type 1 + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_470 Label(s): Lysinuric protein intolerance + 'Lysinuric protein intolerance' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664482 Class: http://www.orpha.net/ORDO/Orphanet_488265 Label(s): Osteofibrous dysplasia - 'Osteofibrous dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia' + 'Osteofibrous dysplasia' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_1240 Label(s): Metaphyseal acroscyphodysplasia - 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'disease' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'disorder' - 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'Moved to' some 'Acrodysostosis' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_628996 Label(s): Rac family small GTPase 3 + 'Rac family small GTPase 3' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_659609 Class: http://www.orpha.net/ORDO/Orphanet_521884 Label(s): RAS guanyl releasing protein 1 - 'RAS guanyl releasing protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'RAS guanyl releasing protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664699 Class: http://www.orpha.net/ORDO/Orphanet_232232 Label(s): myocyte enhancer factor 2C + 'myocyte enhancer factor 2C' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664416 Class: http://www.orpha.net/ORDO/Orphanet_79264 Label(s): Juvenile neuronal ceroid lipofuscinosis - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disorder' - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'obsolete disorder' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_484112 Label(s): ubiquitin specific peptidase 18 - 'ubiquitin specific peptidase 18' SubClassOf 'has_chromosomal location' value "22q11.2" + 'ubiquitin specific peptidase 18' SubClassOf 'has_chromosomal location' value "22q11.21" Class: http://www.orpha.net/ORDO/Orphanet_1855 Label(s): Spondyloenchondrodysplasia - 'Spondyloenchondrodysplasia' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_120236 Label(s): tripeptidyl peptidase 1 - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' + 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN2 disease' Class: http://www.orpha.net/ORDO/Orphanet_444077 Label(s): Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_291703 Label(s): proline rich transmembrane protein 2 + 'proline rich transmembrane protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' Class: http://www.orpha.net/ORDO/Orphanet_332077 Label(s): protein kinase C delta - 'protein kinase C delta' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autoimmune lymphoproliferative syndrome' + 'protein kinase C delta' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664711 Class: http://www.orpha.net/ORDO/Orphanet_540 Label(s): Familial hemophagocytic lymphohistiocytosis - 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some 'Primary hemophagocytic lymphohistiocytosis' + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664482 + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_487242 Label(s): embryonic ectoderm development - 'embryonic ectoderm development' SubClassOf 'disease-causing germline mutation(s) in' some 'Weaver syndrome' + 'embryonic ectoderm development' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_659396 + 'embryonic ectoderm development' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_659387 Class: http://www.orpha.net/ORDO/Orphanet_306550 Label(s): FADD-related immunodeficiency + 'FADD-related immunodeficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_271861 Label(s): Hereditary ATTR amyloidosis - 'Hereditary ATTR amyloidosis' SubClassOf 'Hereditary amyloidosis' - 'Hereditary ATTR amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' - 'Hereditary ATTR amyloidosis' SubClassOf 'Amyloidosis' - 'Hereditary ATTR amyloidosis' SubClassOf 'group of disorders' + 'Hereditary ATTR amyloidosis' SubClassOf 'disorder' + 'Hereditary ATTR amyloidosis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' + 'Hereditary ATTR amyloidosis' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' + 'Hereditary ATTR amyloidosis' SubClassOf 'part_of' some 'Hereditary amyloidosis' + 'Hereditary ATTR amyloidosis' SubClassOf 'disease' + 'Hereditary ATTR amyloidosis' SubClassOf 'part_of' some 'Amyloidosis' Class: http://www.orpha.net/ORDO/Orphanet_140047 Label(s): bone morphogenetic protein 4 + 'bone morphogenetic protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_431878 Label(s): testis expressed 11 - 'testis expressed 11' SubClassOf 'has_chromosomal location' value "Xp11" + 'testis expressed 11' SubClassOf 'has_chromosomal location' value "Xq13.1" Class: http://www.orpha.net/ORDO/Orphanet_228423 Label(s): Monocytopenia with susceptibility to infections - 'Monocytopenia with susceptibility to infections' SubClassOf 'part_of' some 'Quantitative and/or qualitative congenital phagocyte defect' + 'Monocytopenia with susceptibility to infections' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_2062 Label(s): Progressive non-infectious anterior vertebral fusion + 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_395954 Label(s): RELA proto-oncogene, NF-kB subunit - 'RELA proto-oncogene, NF-kB subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hereditary pediatric Behçet-like disease' - 'RELA proto-oncogene, NF-kB subunit' SubClassOf 'part of a fusion gene in' some 'Ependymoma' + 'RELA proto-oncogene, NF-kB subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to RELA haploinsufficiency' Class: http://www.orpha.net/ORDO/Orphanet_469950 Label(s): adaptor related protein complex 3 subunit delta 1 + 'adaptor related protein complex 3 subunit delta 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_664511 Class: http://www.orpha.net/ORDO/Orphanet_506368 Label(s): ARV1 homolog, fatty acid homeostasis modulator - 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'gene with protein product' - 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'has_chromosomal location' value "1q42.2" - 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'candidate gene tested in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_356180 Label(s): cathepsin F - 'cathepsin F' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' + 'cathepsin F' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN13 disease' Class: http://www.orpha.net/ORDO/Orphanet_1765 Label(s): Dyschondrosteosis-nephritis syndrome - 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'disorder' - 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' - 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'malformation syndrome' - 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'obsolete disorder' + 'Dyschondrosteosis-nephritis syndrome' SubClassOf 'Referred to' some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_324294 Label(s): T-cell immunodeficiency with epidermodysplasia verruciformis - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_514010 Label(s): MLX interacting protein like - 'MLX interacting protein like' SubClassOf 'gene with protein product' - 'MLX interacting protein like' SubClassOf 'has_chromosomal location' value "7q11.23" - 'MLX interacting protein like' SubClassOf 'candidate gene tested in' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168621 Label(s): Dysplasia of head of femur, Meyer type - 'Dysplasia of head of femur, Meyer type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Dysplasia of head of femur, Meyer type' SubClassOf 'part_of' some 'Rare bone disease' Class: http://www.orpha.net/ORDO/Orphanet_244206 Label(s): methyl-CpG binding domain protein 5 - 'methyl-CpG binding domain protein 5' SubClassOf 'has_chromosomal location' value "2q23.2" + 'methyl-CpG binding domain protein 5' SubClassOf 'has_chromosomal location' value "2q23.1" Class: http://www.orpha.net/ORDO/Orphanet_1455 Label(s): Autosomal dominant coarctation of aorta - 'Autosomal dominant coarctation of aorta' SubClassOf 'subtype of a disorder' - 'Autosomal dominant coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' + 'Autosomal dominant coarctation of aorta' SubClassOf 'Referred to' some 'Aorta coarctation' + 'Autosomal dominant coarctation of aorta' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_678 Label(s): Papillon-Lefèvre syndrome - 'Papillon-Lefèvre syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Papillon-Lefèvre syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674648 Class: http://www.orpha.net/ORDO/Orphanet_286604 Label(s): complement factor H related 5 - 'complement factor H related 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' Class: http://www.orpha.net/ORDO/Orphanet_363263 Label(s): neurotrophic receptor tyrosine kinase 2 + 'neurotrophic receptor tyrosine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_369146 Label(s): TNF alpha induced protein 3 - 'TNF alpha induced protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hereditary pediatric Behçet-like disease' + 'TNF alpha induced protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_674762 Class: http://www.orpha.net/ORDO/Orphanet_123269 Label(s): mutL homolog 3 - 'mutL homolog 3' SubClassOf 'modifying germline mutation in' some 'Lynch syndrome' - 'mutL homolog 3' SubClassOf 'gene with protein product' - 'mutL homolog 3' SubClassOf 'has_chromosomal location' value "14q24.3" Class: http://www.orpha.net/ORDO/Orphanet_653915 Label(s): zinc finger homeobox 2 + 'zinc finger homeobox 2' SubClassOf 'has_chromosomal location' value "14q11.2" Class: http://www.orpha.net/ORDO/Orphanet_447740 Label(s): Susceptibility to localized juvenile periodontitis - 'Susceptibility to localized juvenile periodontitis' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Susceptibility to localized juvenile periodontitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674648 Class: http://www.orpha.net/ORDO/Orphanet_264675 Label(s): Hereditary pulmonary alveolar proteinosis - 'Hereditary pulmonary alveolar proteinosis' SubClassOf 'part_of' some 'Quantitative and/or qualitative congenital phagocyte defect' + 'Hereditary pulmonary alveolar proteinosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_120088 Label(s): thrombomodulin - 'thrombomodulin' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with complement gene abnormality' + 'thrombomodulin' SubClassOf 'candidate gene tested in' some 'Atypical hemolytic uremic syndrome with complement gene abnormality' Class: http://www.orpha.net/ORDO/Orphanet_171866 Label(s): Spondyloepimetaphyseal dysplasia, aggrecan type - 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' + 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_69 Label(s): Amyloidosis - 'Amyloidosis' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_51 Label(s): Aicardi-Goutières syndrome - 'Aicardi-Goutières syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label(s): Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_453713 Label(s): ovo like zinc finger 2 - 'ovo like zinc finger 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital hereditary endothelial dystrophy type I' Class: http://www.orpha.net/ORDO/Orphanet_2114 Label(s): Hip dysplasia, Beukes type - 'Hip dysplasia, Beukes type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia and pseudoachondroplasia' + 'Hip dysplasia, Beukes type' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_538963 Label(s): Combined immunodeficiency due to ITK deficiency - 'Combined immunodeficiency due to ITK deficiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Combined immunodeficiency due to ITK deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Combined immunodeficiency due to ITK deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664456 Class: http://www.orpha.net/ORDO/Orphanet_210584 Label(s): Spindle cell hemangioma - 'Spindle cell hemangioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Spindle cell hemangioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_210589 Label(s): Infantile hemangioma of rare localization - 'Infantile hemangioma of rare localization' SubClassOf 'Rare vascular tumor' + 'Infantile hemangioma of rare localization' SubClassOf http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_2123 Label(s): Diffuse neonatal hemangiomatosis - 'Diffuse neonatal hemangiomatosis' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Diffuse neonatal hemangiomatosis' SubClassOf 'part_of' some 'Infantile hemangioma of rare localization' Class: http://www.orpha.net/ORDO/Orphanet_658805 Label(s): Greig cephalopolysyndactyly-contiguous gene syndrome - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'disease' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_266184 Label(s): lysyl-tRNA synthetase 1 + 'lysyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult-onset progressive leukoencephalopathy-early-onset deafness' Class: http://www.orpha.net/ORDO/Orphanet_304263 Label(s): ADAM metallopeptidase with thrombospondin type 1 motif 17 - 'ADAM metallopeptidase with thrombospondin type 1 motif 17' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif 17' SubClassOf 'role in the phenotype of' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif 17' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Weill-Marchesani syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268325 Label(s): tet methylcytosine dioxygenase 2 + 'tet methylcytosine dioxygenase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664729 Class: http://www.orpha.net/ORDO/Orphanet_83628 Label(s): LUMBAR syndrome - 'LUMBAR syndrome' SubClassOf 'part_of' some 'Vascular tumor with associated anomalies' + 'LUMBAR syndrome' SubClassOf 'part_of' some 'Infantile hemangioma of rare localization' Class: http://www.orpha.net/ORDO/Orphanet_168491 Label(s): Late infantile neuronal ceroid lipofuscinosis - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disorder' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_470996 Label(s): RAR related orphan receptor C - 'RAR related orphan receptor C' SubClassOf 'has_chromosomal location' value "1q21" + 'RAR related orphan receptor C' SubClassOf 'has_chromosomal location' value "1q21.3" Class: http://www.orpha.net/ORDO/Orphanet_171038 Label(s): DDB1 and CUL4 associated factor 17 - 'DDB1 and CUL4 associated factor 17' SubClassOf 'gene with protein product' - 'DDB1 and CUL4 associated factor 17' SubClassOf 'has_chromosomal location' value "2q31.1" - 'DDB1 and CUL4 associated factor 17' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_435804 Label(s): Short stature-advanced bone age-early-onset osteoarthritis syndrome - 'Short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' + 'Short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_435808 Label(s): OBSOLETE: ACAN-related skeletal dysplasia - 'OBSOLETE: ACAN-related skeletal dysplasia' SubClassOf 'Referred to' some 'Aggrecan-related bone disorder' + 'OBSOLETE: ACAN-related skeletal dysplasia' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_93569 Label(s): Polymyalgia rheumatica - 'Polymyalgia rheumatica' SubClassOf 'disorder' - 'Polymyalgia rheumatica' SubClassOf 'disease' - 'Polymyalgia rheumatica' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Polymyalgia rheumatica' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_93566 Label(s): OBSOLETE: Pediatric Sjögren syndrome + 'OBSOLETE: Pediatric Sjögren syndrome' SubClassOf 'Referred to' some 'Primary Sjögren syndrome' Class: http://www.orpha.net/ORDO/Orphanet_51636 Label(s): WHIM syndrome - 'WHIM syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' - 'WHIM syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'WHIM syndrome' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_171089 Label(s): myosin VB - 'myosin VB' SubClassOf 'has_chromosomal location' value "18q" + 'myosin VB' SubClassOf 'has_chromosomal location' value "18q21.1" Class: http://www.orpha.net/ORDO/Orphanet_811 Label(s): Shwachman-Diamond syndrome - 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Shwachman-Diamond syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_95455 Label(s): Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum + 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum' SubClassOf 'part_of' some 'Rare disorder with corneal involvement as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_431562 Label(s): APC regulator of WNT signaling pathway 2 + 'APC regulator of WNT signaling pathway 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Klippel-Trénaunay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98975 Label(s): Congenital hereditary endothelial dystrophy type I - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disease' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'part_of' some 'Posterior corneal dystrophy' - 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'disorder' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'deprecated disorder' + 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Moved to' some 'Posterior polymorphous corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_123161 Label(s): melanocortin 2 receptor - 'melanocortin 2 receptor' SubClassOf 'has_chromosomal location' value "18p11.2" + 'melanocortin 2 receptor' SubClassOf 'has_chromosomal location' value "18p11.21" Class: http://www.orpha.net/ORDO/Orphanet_171647 Label(s): PBX homeobox 1 + 'PBX homeobox 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1456 Label(s): Atypical coarctation of aorta - 'Atypical coarctation of aorta' SubClassOf 'part_of' some 'Aorta coarctation' - 'Atypical coarctation of aorta' SubClassOf 'subtype of a disorder' + 'Atypical coarctation of aorta' SubClassOf 'part_of' some 'Aortic malformation' + 'Atypical coarctation of aorta' SubClassOf 'disorder' + 'Atypical coarctation of aorta' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_950 Label(s): Acrodysostosis + 'Acrodysostosis' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Acrodysostosis' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_446811 Label(s): phosphoglucomutase 3 - 'phosphoglucomutase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1795 Label(s): OBSOLETE: Peripheral dysostosis + 'OBSOLETE: Peripheral dysostosis' SubClassOf 'Referred to' some 'Acrodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_138523 Label(s): signal transducer and activator of transcription 3 + 'signal transducer and activator of transcription 3' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_667662 Class: http://www.orpha.net/ORDO/Orphanet_183707 Label(s): Neutrophil immunodeficiency syndrome - 'Neutrophil immunodeficiency syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Neutrophil immunodeficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_79262 Label(s): Adult neuronal ceroid lipofuscinosis - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disorder' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_79263 Label(s): Infantile neuronal ceroid lipofuscinosis - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disorder' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Cerebral lipidosis with dementia' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'obsolete disorder' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_438159 Label(s): STAT3-related early-onset multisystem autoimmune disease - 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_471180 Label(s): TGF-beta activated kinase 1 (MAP3K7) binding protein 2 - 'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Polyvalvular heart disease syndrome' - 'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'role in the phenotype of' some 'Polyvalvular heart disease syndrome' + 'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_664404 + 'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664401 Class: http://www.orpha.net/ORDO/Orphanet_478263 Label(s): lysine demethylase 1A + 'lysine demethylase 1A' SubClassOf 'modifying germline mutation in' some 'Cushing syndrome due to bilateral macronodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_268114 Label(s): RAS-associated autoimmune leukoproliferative disease - 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_499085 Label(s): Chronic relapsing inflammatory optic neuropathy - 'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy' - 'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'disease' - 'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'disorder' + 'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'part_of' some 'Isolated optic neuritis' + 'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label(s): OBSOLETE: CLN2 disease - 'OBSOLETE: CLN2 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN2 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN2 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN2 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN2 disease' SubClassOf 'disease' + 'OBSOLETE: CLN2 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_91137 Label(s): Immunotactoid or fibrillary glomerulopathy - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'Non-genetic systemic disease with glomerulopathy as a major feature' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_138486 Label(s): mediator complex subunit 12 + 'mediator complex subunit 12' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Cholestasis-pigmentary retinopathy-cleft palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166011 Label(s): Multiple epiphyseal dysplasia, Beighton type - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Syndromic genetic cataract' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Type 2 collagen-related bone disorder' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'disorder' - 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'part_of' some 'Syndromic cataract' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Moved to' some 'Stickler syndrome' + 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_857 Label(s): Townes-Brocks syndrome - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Otomandibular dysplasia associated with monogenic syndromes' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Townes-Brocks syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_469968 Label(s): ATPase family AAA domain containing 3A + 'ATPase family AAA domain containing 3A' SubClassOf 'role in the phenotype of' some 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster' + 'ATPase family AAA domain containing 3A' SubClassOf 'disease-causing germline mutation(s) in' some 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation' + 'ATPase family AAA domain containing 3A' SubClassOf 'role in the phenotype of' some '1p36.33 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_800 Label(s): Schwartz-Jampel syndrome - 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some 'Perlecan-related bone disorder' + 'Schwartz-Jampel syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_117728 Label(s): angiotensin I converting enzyme - 'angiotensin I converting enzyme' SubClassOf 'candidate gene tested in' some 'Immunoglobulin A nephropathy' Class: http://www.orpha.net/ORDO/Orphanet_228384 Label(s): 5q14.3 microdeletion syndrome - '5q14.3 microdeletion syndrome' SubClassOf 'disorder' - '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '5q14.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664410 + '5q14.3 microdeletion syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_306189 Label(s): E74 like ETS transcription factor 4 - 'E74 like ETS transcription factor 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary pediatric Behçet-like disease' Class: http://www.orpha.net/ORDO/Orphanet_311649 Label(s): collagen type XIV alpha 1 chain - 'collagen type XIV alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Punctate palmoplantar keratoderma type 1' + 'collagen type XIV alpha 1 chain' SubClassOf 'candidate gene tested in' some 'Punctate palmoplantar keratoderma type 1' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label(s): OBSOLETE: CLN7 disease - 'OBSOLETE: CLN7 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN7 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN7 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN7 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN7 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'OBSOLETE: CLN7 disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label(s): OBSOLETE: CLN6 disease - 'OBSOLETE: CLN6 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN6 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN6 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN6 disease' SubClassOf 'disease' + 'OBSOLETE: CLN6 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN6 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_471078 Label(s): solute carrier family 27 member 5 - 'solute carrier family 27 member 5' SubClassOf 'gene with protein product' - 'solute carrier family 27 member 5' SubClassOf 'candidate gene tested in' some 'Bile acid CoA ligase deficiency and defective amidation' - 'solute carrier family 27 member 5' SubClassOf 'has_chromosomal location' value "19q13.43" Class: http://www.orpha.net/ORDO/Orphanet_228354 Label(s): OBSOLETE : CLN8 disease - 'OBSOLETE : CLN8 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE : CLN8 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE : CLN8 disease' SubClassOf 'disorder' + 'OBSOLETE : CLN8 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE : CLN8 disease' SubClassOf 'disease' + 'OBSOLETE : CLN8 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label(s): OBSOLETE: CLN3 disease - 'OBSOLETE: CLN3 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN3 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN3 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN3 disease' SubClassOf 'disease' + 'OBSOLETE: CLN3 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'OBSOLETE: CLN3 disease' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_471062 Label(s): SIN3 transcription regulator family member A - 'SIN3 transcription regulator family member A' SubClassOf 'disease-causing germline mutation(s) in' some 'Witteveen-Kolk syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label(s): OBSOLETE: CLN10 disease - 'OBSOLETE: CLN10 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN10 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN10 disease' SubClassOf 'disease' + 'OBSOLETE: CLN10 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_165976 Label(s): calcium/calmodulin dependent serine protein kinase + 'calcium/calmodulin dependent serine protein kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2406 Label(s): Locked-in syndrome - 'Locked-in syndrome' SubClassOf 'disease' + 'Locked-in syndrome' SubClassOf 'Clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label(s): OBSOLETE: CLN1 disease - 'OBSOLETE: CLN1 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN1 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN1 disease' SubClassOf 'disease' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN1 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_353516 Label(s): DNA topoisomerase II alpha - 'DNA topoisomerase II alpha' SubClassOf 'biomarker tested in' some 'Neuroblastoma' - 'DNA topoisomerase II alpha' SubClassOf 'gene with protein product' - 'DNA topoisomerase II alpha' SubClassOf 'has_chromosomal location' value "17q21.2" Class: http://www.orpha.net/ORDO/Orphanet_118532 Label(s): sodium channel epithelial 1 subunit alpha - 'sodium channel epithelial 1 subunit alpha' SubClassOf 'has_chromosomal location' value "12p13" + 'sodium channel epithelial 1 subunit alpha' SubClassOf 'has_chromosomal location' value "12p13.31" Class: http://www.orpha.net/ORDO/Orphanet_168073 Label(s): granulin precursor - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' + 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN11 disease' Class: http://www.orpha.net/ORDO/Orphanet_93283 Label(s): Spondyloepiphyseal dysplasia, Kimberley type - 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' + 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_377752 Label(s): 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 'has_chromosomal location' value "1p33" - 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_138376 Label(s): platelet derived growth factor receptor beta - 'platelet derived growth factor receptor beta' SubClassOf 'part of a fusion gene in' some 'Chronic myelomonocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_619953 Label(s): Familial hyperinflammatory lymphoproliferative immunodeficiency - 'Familial hyperinflammatory lymphoproliferative immunodeficiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_619941 Label(s): Immune deficiency due to impaired neutrophil phagocytosis and migration - 'Immune deficiency due to impaired neutrophil phagocytosis and migration' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Immune deficiency due to impaired neutrophil phagocytosis and migration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_303805 Label(s): cullin 3 + 'cullin 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_707 Label(s): Plague - 'Plague' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Plague' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659712 Class: http://www.orpha.net/ORDO/Orphanet_353497 Label(s): G protein subunit alpha q + 'G protein subunit alpha q' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_675359 Class: http://www.orpha.net/ORDO/Orphanet_3446 Label(s): Weaver-like syndrome - 'Weaver-like syndrome' SubClassOf 'Moved to' some 'Weaver syndrome' + 'Weaver-like syndrome' SubClassOf 'Moved to' some http://www.orpha.net/ORDO/Orphanet_659387 Class: http://www.orpha.net/ORDO/Orphanet_3447 Label(s): Weaver syndrome - 'Weaver syndrome' SubClassOf 'part_of' some 'Overgrowth or tall stature syndrome with skeletal involvement' - 'Weaver syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' - 'Weaver syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Weaver syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Weaver syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659387 Class: http://www.orpha.net/ORDO/Orphanet_436159 Label(s): Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' Class: http://www.orpha.net/ORDO/Orphanet_121796 Label(s): fibroblast growth factor 14 + 'fibroblast growth factor 14' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_675216 Class: http://www.orpha.net/ORDO/Orphanet_118536 Label(s): sodium channel epithelial 1 subunit beta - 'sodium channel epithelial 1 subunit beta' SubClassOf 'has_chromosomal location' value "16p12.2-p12.1" + 'sodium channel epithelial 1 subunit beta' SubClassOf 'has_chromosomal location' value "16p12.2" Class: http://www.orpha.net/ORDO/Orphanet_650061 Label(s): AFG2 AAA ATPase homolog B + 'AFG2 AAA ATPase homolog B' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_659975 Class: http://www.orpha.net/ORDO/Orphanet_123996 Label(s): OPA1 mitochondrial dynamin like GTPase + 'OPA1 mitochondrial dynamin like GTPase' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: Behr syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123920 Label(s): nuclear receptor subfamily 3 group C member 2 - 'nuclear receptor subfamily 3 group C member 2' SubClassOf 'has_chromosomal location' value "4q31" + 'nuclear receptor subfamily 3 group C member 2' SubClassOf 'has_chromosomal location' value "4q31.23" Class: http://www.orpha.net/ORDO/Orphanet_369992 Label(s): Severe dermatitis-multiple allergies-metabolic wasting syndrome - 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85453 Label(s): X-linked reticulate pigmentary disorder - 'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some 'Rare systemic disease' + 'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_85451 Label(s): ATTRV122I amyloidosis - 'ATTRV122I amyloidosis' SubClassOf 'disease' - 'ATTRV122I amyloidosis' SubClassOf 'disorder' + 'ATTRV122I amyloidosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_85447 Label(s): ATTRV30M amyloidosis - 'ATTRV30M amyloidosis' SubClassOf 'disorder' - 'ATTRV30M amyloidosis' SubClassOf 'disease' + 'ATTRV30M amyloidosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_118613 Label(s): serpin family E member 1 + 'serpin family E member 1' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_673556 Class: http://www.orpha.net/ORDO/Orphanet_123201 Label(s): MET proto-oncogene, receptor tyrosine kinase - 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'has_chromosomal location' value "7q31" + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'has_chromosomal location' value "7q31.2" Class: http://www.orpha.net/ORDO/Orphanet_699 Label(s): Pearson syndrome - 'Pearson syndrome' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_657 Label(s): Congenital isolated hyperinsulinism + 'Congenital isolated hyperinsulinism' SubClassOf 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_331176 Label(s): Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency + 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_139778 Label(s): melanocortin 1 receptor - 'melanocortin 1 receptor' SubClassOf 'modifying germline mutation in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_118697 Label(s): SH3 and multiple ankyrin repeat domains 3 - 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'role in the phenotype of' some 'Monosomy 22q13.3' + 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_662169 + 'SH3 and multiple ankyrin repeat domains 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_662172 Class: http://www.orpha.net/ORDO/Orphanet_658946 Label(s): Early-onset autoimmune disorder due to DOCK11 partial deficiency - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_619363 Label(s): Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 - 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'part_of' some 'Secondary hemophagocytic lymphohistiocytosis' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664482 Class: http://www.orpha.net/ORDO/Orphanet_65250 Label(s): Perineural cyst - 'Perineural cyst' SubClassOf 'disease' - 'Perineural cyst' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Perineural cyst' SubClassOf 'disorder' + 'Perineural cyst' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_275517 Label(s): Autoimmune lymphoproliferative syndrome with recurrent viral infections - 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_321364 Label(s): transmembrane protein 231 - 'transmembrane protein 231' SubClassOf 'disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 3' + 'transmembrane protein 231' SubClassOf 'disease-causing germline mutation(s) in' some 'Orofaciodigital syndrome type 6' Class: http://www.orpha.net/ORDO/Orphanet_431102 Label(s): WW domain containing transcription regulator 1 + 'WW domain containing transcription regulator 1' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_673556 Class: http://www.orpha.net/ORDO/Orphanet_361071 Label(s): nuclear receptor subfamily 4 group A member 3 - 'nuclear receptor subfamily 4 group A member 3' SubClassOf 'has_chromosomal location' value "9q22" + 'nuclear receptor subfamily 4 group A member 3' SubClassOf 'has_chromosomal location' value "9q31.1" Class: http://www.orpha.net/ORDO/Orphanet_3261 Label(s): Autoimmune lymphoproliferative syndrome - 'Autoimmune lymphoproliferative syndrome' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Autoimmune lymphoproliferative syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_652816 Label(s): serine/arginine repetitive matrix 2 + 'serine/arginine repetitive matrix 2' SubClassOf 'has_chromosomal location' value "16p13.3" Class: http://www.orpha.net/ORDO/Orphanet_3226 Label(s): Deafness-lymphedema-leukemia syndrome - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'malformation syndrome' - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'part_of' some 'Late-onset primary lymphedema without systemic or visceral involvement' - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'disorder' - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' - 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'part_of' some 'Tumor of hematopoietic and lymphoid tissues' + 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'Moved to' some 'Monocytopenia with susceptibility to infections' + 'Deafness-lymphedema-leukemia syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_3210 Label(s): Summitt syndrome - 'Summitt syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Summitt syndrome' SubClassOf 'disorder' - 'Summitt syndrome' SubClassOf 'malformation syndrome' + 'Summitt syndrome' SubClassOf 'deprecated disorder' + 'Summitt syndrome' SubClassOf 'Moved to' some 'Carpenter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_423384 Label(s): Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency + 'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_103912 Label(s): OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome + 'OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'Referred to' some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_85191 Label(s): Singleton-Merten dysplasia - 'Singleton-Merten dysplasia' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_431087 Label(s): SUZ12 polycomb repressive complex 2 subunit + 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_659463 + 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_659387 Class: http://www.orpha.net/ORDO/Orphanet_123797 Label(s): NK2 homeobox 5 - 'NK2 homeobox 5' SubClassOf 'has_chromosomal location' value "5q34" + 'NK2 homeobox 5' SubClassOf 'has_chromosomal location' value "5q35.1" Class: http://www.orpha.net/ORDO/Orphanet_437674 Label(s): protein phosphatase, Mg2+/Mn2+ dependent 1D - 'protein phosphatase, Mg2+/Mn2+ dependent 1D' SubClassOf 'candidate gene tested in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_600946 Label(s): fibroblast growth factor 13 - 'fibroblast growth factor 13' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'fibroblast growth factor 13' SubClassOf 'disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus' Class: http://www.orpha.net/ORDO/Orphanet_443197 Label(s): X-linked erythropoietic protoporphyria - 'X-linked erythropoietic protoporphyria' SubClassOf 'part_of' some 'Porphyria' - 'X-linked erythropoietic protoporphyria' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'X-linked erythropoietic protoporphyria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659681 Class: http://www.orpha.net/ORDO/Orphanet_121844 Label(s): filaggrin - 'filaggrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Recessive X-linked ichthyosis' + 'filaggrin' SubClassOf 'modifying germline mutation in' some 'Recessive X-linked ichthyosis' Class: http://www.orpha.net/ORDO/Orphanet_599201 Label(s): BAF chromatin remodeling complex subunit BCL7B - 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'gene with protein product' - 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'has_chromosomal location' value "7q11.23" - 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'candidate gene tested in' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_592885 Label(s): Isolated optic neuritis without anti-MOG antibodies - 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'part_of' some 'Isolated optic neuritis' - 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'subtype of a disorder' + 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'Referred to' some 'Isolated optic neuritis' + 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_487237 Label(s): inositol polyphosphate-5-phosphatase K - 'inositol polyphosphate-5-phosphatase K' SubClassOf 'disease-causing germline mutation(s) in' some 'Marinesco-Sjögren syndrome' + 'inositol polyphosphate-5-phosphatase K' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_662184 Class: http://www.orpha.net/ORDO/Orphanet_95159 Label(s): Hepatoerythropoietic porphyria - 'Hepatoerythropoietic porphyria' SubClassOf 'part_of' some 'Chronic hepatic porphyria' + 'Hepatoerythropoietic porphyria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659681 Class: http://www.orpha.net/ORDO/Orphanet_95157 Label(s): Acute hepatic porphyria - 'Acute hepatic porphyria' SubClassOf 'Rare metabolic liver disease' - 'Acute hepatic porphyria' SubClassOf 'Porphyria' + 'Acute hepatic porphyria' SubClassOf 'Rare disorder potentially indicated for liver transplant' + 'Acute hepatic porphyria' SubClassOf http://www.orpha.net/ORDO/Orphanet_659694 Class: http://www.orpha.net/ORDO/Orphanet_295219 Label(s): Radio-ulnar synostosis, bilateral - 'Radio-ulnar synostosis, bilateral' SubClassOf 'subtype of a disorder' - 'Radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Congenital radioulnar synostosis' + 'Radio-ulnar synostosis, bilateral' SubClassOf 'obsolete subtype of disorder' + 'Radio-ulnar synostosis, bilateral' SubClassOf 'Referred to' some 'Congenital radioulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_295215 Label(s): Humero-ulnar synostosis, bilateral - 'Humero-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' - 'Humero-ulnar synostosis, bilateral' SubClassOf 'subtype of a disorder' + 'Humero-ulnar synostosis, bilateral' SubClassOf 'Referred to' some 'Humero-ulnar synostosis' + 'Humero-ulnar synostosis, bilateral' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_295213 Label(s): Humero-ulnar synostosis, unilateral - 'Humero-ulnar synostosis, unilateral' SubClassOf 'subtype of a disorder' - 'Humero-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-ulnar synostosis' + 'Humero-ulnar synostosis, unilateral' SubClassOf 'Referred to' some 'Humero-ulnar synostosis' + 'Humero-ulnar synostosis, unilateral' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_141327 Label(s): Orofaciodigital syndrome type 12 - 'Orofaciodigital syndrome type 12' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 12' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 12' SubClassOf 'disorder' + 'Orofaciodigital syndrome type 12' SubClassOf 'Referred to' some 'Orofaciodigital syndrome' + 'Orofaciodigital syndrome type 12' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_95161 Label(s): Chronic hepatic porphyria - 'Chronic hepatic porphyria' SubClassOf 'group of disorders' - 'Chronic hepatic porphyria' SubClassOf 'Rare metabolic liver disease' - 'Chronic hepatic porphyria' SubClassOf 'Porphyria' + 'Chronic hepatic porphyria' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_659694 + 'Chronic hepatic porphyria' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_85200 Label(s): Ischiovertebral syndrome - 'Ischiovertebral syndrome' SubClassOf 'malformation syndrome' - 'Ischiovertebral syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'Ischiovertebral syndrome' SubClassOf 'disorder' + 'Ischiovertebral syndrome' SubClassOf 'deprecated disorder' + 'Ischiovertebral syndrome' SubClassOf 'Moved to' some 'Diaphanospondylodysostosis' Class: http://www.orpha.net/ORDO/Orphanet_279781 Label(s): DnaJ heat shock protein family (Hsp40) member C5 - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' + 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN4B disease' Class: http://www.orpha.net/ORDO/Orphanet_279771 Label(s): kinesin family member 1A - 'kinesin family member 1A' SubClassOf 'disease-causing germline mutation(s) in' some 'PEHO syndrome' + 'kinesin family member 1A' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_662367 Class: http://www.orpha.net/ORDO/Orphanet_275523 Label(s): Dianzani autoimmune lymphoproliferative disease - 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_121474 Label(s): ATM serine/threonine kinase + 'ATM serine/threonine kinase' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_247871 Label(s): OBSOLETE: Vitiligo-associated autoimmune disease + 'OBSOLETE: Vitiligo-associated autoimmune disease' SubClassOf 'Referred to' some 'Autoimmune disease with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_477268 Label(s): G protein subunit alpha 14 + 'G protein subunit alpha 14' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_675359 Class: http://www.orpha.net/ORDO/Orphanet_629504 Label(s): protocadherin gamma subfamily C, 4 - 'protocadherin gamma subfamily C, 4' SubClassOf 'gene with protein product' + 'protocadherin gamma subfamily C, 4' SubClassOf 'disorder-associated locus' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label(s): Vasculitis due to ADA2 deficiency - 'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_619948 Label(s): Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome - 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 Class: http://www.orpha.net/ORDO/Orphanet_525273 Label(s): rabenosyn, RAB effector - 'rabenosyn, RAB effector' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital neutropenia-myelofibrosis-nephromegaly syndrome' + 'rabenosyn, RAB effector' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_675782 + 'rabenosyn, RAB effector' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_675775 Class: http://www.orpha.net/ORDO/Orphanet_171081 Label(s): transient receptor potential cation channel subfamily V member 4 - 'transient receptor potential cation channel subfamily V member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Parastremmatic dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_118111 Label(s): phosphoserine phosphatase + 'phosphoserine phosphatase' SubClassOf 'disease-causing germline mutation(s) in' some 'Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_65798 Label(s): Goodman syndrome - 'Goodman syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Goodman syndrome' SubClassOf 'disorder' - 'Goodman syndrome' SubClassOf 'malformation syndrome' - 'Goodman syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' - 'Goodman syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Goodman syndrome' SubClassOf 'Moved to' some 'Carpenter syndrome' + 'Goodman syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_168486 Label(s): Congenital neuronal ceroid lipofuscinosis - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disorder' - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_295217 Label(s): Radio-ulnar synostosis, unilateral - 'Radio-ulnar synostosis, unilateral' SubClassOf 'subtype of a disorder' - 'Radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Congenital radioulnar synostosis' + 'Radio-ulnar synostosis, unilateral' SubClassOf 'obsolete subtype of disorder' + 'Radio-ulnar synostosis, unilateral' SubClassOf 'Referred to' some 'Congenital radioulnar synostosis' Class: http://www.orpha.net/ORDO/Orphanet_379 Label(s): Chronic granulomatous disease - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Chronic granulomatous disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_99647 Label(s): Cheirospondyloenchondromatosis - 'Cheirospondyloenchondromatosis' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Cheirospondyloenchondromatosis' SubClassOf 'disease' - 'Cheirospondyloenchondromatosis' SubClassOf 'disorder' + 'Cheirospondyloenchondromatosis' SubClassOf 'Moved to' some 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' + 'Cheirospondyloenchondromatosis' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_344 Label(s): Arbovirus fever - 'Arbovirus fever' SubClassOf 'Rare viral disease' - 'Arbovirus fever' SubClassOf 'group of disorders' + 'Arbovirus fever' SubClassOf 'obsolete group of disorder' + 'Arbovirus fever' SubClassOf 'Referred to' some 'Rare viral disease' Class: http://www.orpha.net/ORDO/Orphanet_157791 Label(s): Epithelioid hemangioendothelioma - 'Epithelioid hemangioendothelioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Epithelioid hemangioendothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673466 Class: http://www.orpha.net/ORDO/Orphanet_592888 Label(s): Isolated optic neuritis with anti-MOG antibodies - 'Isolated optic neuritis with anti-MOG antibodies' SubClassOf 'subtype of a disorder' - 'Isolated optic neuritis with anti-MOG antibodies' SubClassOf 'part_of' some 'Isolated optic neuritis' + 'Isolated optic neuritis with anti-MOG antibodies' SubClassOf 'obsolete subtype of disorder' + 'Isolated optic neuritis with anti-MOG antibodies' SubClassOf 'Referred to' some 'Isolated optic neuritis' Class: http://www.orpha.net/ORDO/Orphanet_594670 Label(s): SAM and SH3 domain containing 3 - 'SAM and SH3 domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked combined immunodeficiency due to SASH3 deficiency' + 'SAM and SH3 domain containing 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'X-linked combined immunodeficiency due to SASH3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_308 Label(s): Progressive myoclonic epilepsy type 1 - 'Progressive myoclonic epilepsy type 1' SubClassOf 'malformation syndrome' + 'Progressive myoclonic epilepsy type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_302 Label(s): Epidermodysplasia verruciformis - 'Epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Other immunodeficiency syndromes due to defects in innate immunity' + 'Epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_33276 Label(s): Kaposi sarcoma - 'Kaposi sarcoma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Kaposi sarcoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673473 Class: http://www.orpha.net/ORDO/Orphanet_263516 Label(s): Progressive myoclonic epilepsy type 3 - 'Progressive myoclonic epilepsy type 3' SubClassOf 'subtype of a disorder' - 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Infantile neuronal ceroid lipofuscinosis' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'disorder' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251262 Label(s): Familial osteochondritis dissecans - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Aggrecan-related bone disorder' + 'Familial osteochondritis dissecans' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_121374 Label(s): adaptor related protein complex 3 subunit beta 1 - 'adaptor related protein complex 3 subunit beta 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Hermansky-Pudlak syndrome due to AP-3 deficiency' + 'adaptor related protein complex 3 subunit beta 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664500 Class: http://www.orpha.net/ORDO/Orphanet_317704 Label(s): SRY-box transcription factor 5 + 'SRY-box transcription factor 5' SubClassOf 'part of a fusion gene in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_364817 Label(s): Aggrecan-related bone disorder - 'Aggrecan-related bone disorder' SubClassOf 'group of disorders' - 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' + 'Aggrecan-related bone disorder' SubClassOf 'obsolete group of disorder' + 'Aggrecan-related bone disorder' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_178493 Label(s): Myopic macular degeneration - 'Myopic macular degeneration' SubClassOf 'part_of' some 'Rare macular disorder' - 'Myopic macular degeneration' SubClassOf 'disease' - 'Myopic macular degeneration' SubClassOf 'disorder' + 'Myopic macular degeneration' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_171220 Label(s): Rectal duplication - 'Rectal duplication' SubClassOf 'part_of' some 'Intestinal malformation' + 'Rectal duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_295000 Label(s): Constriction rings syndrome + 'Constriction rings syndrome' SubClassOf 'part_of' some 'Congenital primary lymphedema without systemic or visceral involvement' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label(s): Nasal ganglioglioma - 'Nasal ganglioglioma' SubClassOf 'subtype of a disorder' + 'Nasal ganglioglioma' SubClassOf 'disorder' + 'Nasal ganglioglioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263413 Label(s): Angiosarcoma - 'Angiosarcoma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Angiosarcoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673466 Class: http://www.orpha.net/ORDO/Orphanet_238 Label(s): Digestive duplication - 'Digestive duplication' SubClassOf 'disorder' - 'Digestive duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' - 'Digestive duplication' SubClassOf 'Morphological anomaly' + 'Digestive duplication' SubClassOf 'obsolete disorder' + 'Digestive duplication' SubClassOf 'Referred to' some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_117978 Label(s): palmitoyl-protein thioesterase 1 - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN1 disease' Class: http://www.orpha.net/ORDO/Orphanet_510728 Label(s): linker for activation of T cells - 'linker for activation of T cells' SubClassOf 'has_chromosomal location' value "16q13" + 'linker for activation of T cells' SubClassOf 'has_chromosomal location' value "16p11.2" Class: http://www.orpha.net/ORDO/Orphanet_213 Label(s): Cystinosis + 'Cystinosis' SubClassOf 'part_of' some 'Hypophosphatemic rickets' Class: http://www.orpha.net/ORDO/Orphanet_79477 Label(s): Griscelli syndrome type 2 - 'Griscelli syndrome type 2' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_445038 Label(s): 3-methylglutaconic aciduria type 7 + '3-methylglutaconic aciduria type 7' SubClassOf 'part_of' some 'Constitutional neutropenia with extra-hematopoietic manifestations' Class: http://www.orpha.net/ORDO/Orphanet_120204 Label(s): tumor protein p53 + 'tumor protein p53' SubClassOf 'major susceptibility factor in' some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2587 Label(s): Myeloperoxidase deficiency - 'Myeloperoxidase deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Myeloperoxidase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674896 Class: http://www.orpha.net/ORDO/Orphanet_2653 Label(s): Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome - 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' - 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'malformation syndrome' - 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'disorder' + 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'Referred to' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_101330 Label(s): Porphyria cutanea tarda - 'Porphyria cutanea tarda' SubClassOf 'part_of' some 'Chronic hepatic porphyria' + 'Porphyria cutanea tarda' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659698 Class: http://www.orpha.net/ORDO/Orphanet_99828 Label(s): Dengue fever - 'Dengue fever' SubClassOf 'part_of' some 'Arbovirus fever' + 'Dengue fever' SubClassOf 'part_of' some 'Viral hemorrhagic fever' Class: http://www.orpha.net/ORDO/Orphanet_99829 Label(s): Yellow fever - 'Yellow fever' SubClassOf 'part_of' some 'Arbovirus fever' Class: http://www.orpha.net/ORDO/Orphanet_167 Label(s): Chédiak-Higashi syndrome - 'Chédiak-Higashi syndrome' SubClassOf 'part_of' some 'Functional neutrophil defect' Class: http://www.orpha.net/ORDO/Orphanet_163 Label(s): Hereditary hyperferritinemia-cataract syndrome + 'Hereditary hyperferritinemia-cataract syndrome' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_263508 Label(s): COG1-CDG - 'COG1-CDG' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' - 'COG1-CDG' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'COG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with deafness as a major feature' - 'COG1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with cardiac malformation as a major feature' + 'COG1-CDG' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'COG1-CDG' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_71213 Label(s): Retinal capillary malformation - 'Retinal capillary malformation' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Retinal capillary malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673470 Class: http://www.orpha.net/ORDO/Orphanet_594489 Label(s): interleukin 6 receptor - 'interleukin 6 receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency' + 'interleukin 6 receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' Class: http://www.orpha.net/ORDO/Orphanet_458763 Label(s): Retiform hemangioendothelioma - 'Retiform hemangioendothelioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Retiform hemangioendothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673473 Class: http://www.orpha.net/ORDO/Orphanet_458768 Label(s): Primary intralymphatic angioendothelioma - 'Primary intralymphatic angioendothelioma' SubClassOf 'part_of' some 'Rare vascular tumor' + 'Primary intralymphatic angioendothelioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_673473 Class: http://www.orpha.net/ORDO/Orphanet_228340 Label(s): OBSOLETE: CLN4A disease - 'OBSOLETE: CLN4A disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN4A disease' SubClassOf 'Referred to' some 'OBSOLETE: CLN6 disease' Class: http://www.orpha.net/ORDO/Orphanet_425120 Label(s): STING-associated vasculopathy with onset in infancy - 'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_1562 Label(s): Dacryocystitis-osteopoikilosis syndrome - 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'malformation syndrome' - 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'part_of' some 'Syndromic lacrimal system disorder' - 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'disorder' + 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'obsolete disorder' + 'Dacryocystitis-osteopoikilosis syndrome' SubClassOf 'Referred to' some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_159893 Label(s): actin beta + 'actin beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_674653 + 'actin beta' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_673556 Class: http://www.orpha.net/ORDO/Orphanet_289375 Label(s): SRY-box transcription factor 17 + 'SRY-box transcription factor 17' SubClassOf 'major susceptibility factor in' some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_220922 Label(s): dedicator of cytokinesis 8 - 'dedicator of cytokinesis 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120309 Label(s): TSC complex subunit 1 - 'TSC complex subunit 1' SubClassOf 'has_chromosomal location' value "9q34" + 'TSC complex subunit 1' SubClassOf 'has_chromosomal location' value "9q34.13" Class: http://www.orpha.net/ORDO/Orphanet_217601 Label(s): OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training + 'OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'Referred to' some 'Non-familial hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_48652 Label(s): Monosomy 22q13.3 - 'Monosomy 22q13.3' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 22' Class: http://www.orpha.net/ORDO/Orphanet_99932 Label(s): Heiner syndrome - 'Heiner syndrome' SubClassOf 'subtype of a disorder' - 'Heiner syndrome' SubClassOf 'part_of' some 'Secondary pulmonary hemosiderosis' + 'Heiner syndrome' SubClassOf 'disease' + 'Heiner syndrome' SubClassOf 'part_of' some 'Secondary interstitial lung disease in childhood and adulthood' + 'Heiner syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_352709 Label(s): OBSOLETE: CLN13 disease - 'OBSOLETE: CLN13 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN13 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN13 disease' SubClassOf 'disorder' + 'OBSOLETE: CLN13 disease' SubClassOf 'disease' + 'OBSOLETE: CLN13 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN13 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_470228 Label(s): doublesex and mab-3 related transcription factor 3 - 'doublesex and mab-3 related transcription factor 3' SubClassOf 'candidate gene tested in' some '46,XY partial gonadal dysgenesis' - 'doublesex and mab-3 related transcription factor 3' SubClassOf 'has_chromosomal location' value "9p24.3" - 'doublesex and mab-3 related transcription factor 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_79278 Label(s): Autosomal erythropoietic protoporphyria - 'Autosomal erythropoietic protoporphyria' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Autosomal erythropoietic protoporphyria' SubClassOf 'part_of' some 'Porphyria' + 'Autosomal erythropoietic protoporphyria' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to an enzyme disorder' + 'Autosomal erythropoietic protoporphyria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659681 Class: http://www.orpha.net/ORDO/Orphanet_79277 Label(s): Congenital erythropoietic porphyria - 'Congenital erythropoietic porphyria' SubClassOf 'part_of' some 'Porphyria' + 'Congenital erythropoietic porphyria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659681 Class: http://www.orpha.net/ORDO/Orphanet_1239 Label(s): OBSOLETE: Behr syndrome - 'OBSOLETE: Behr syndrome' SubClassOf 'obsolete disorder' - 'OBSOLETE: Behr syndrome' SubClassOf 'Referred to' some 'Syndromic hereditary optic neuropathy' + 'OBSOLETE: Behr syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' + 'OBSOLETE: Behr syndrome' SubClassOf 'malformation syndrome' + 'OBSOLETE: Behr syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Behr syndrome' SubClassOf 'part_of' some 'Rare hereditary neurologic disease with peripheral neuropathy' + 'OBSOLETE: Behr syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'OBSOLETE: Behr syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_456990 Label(s): lipoyl(octanoyl) transferase 2 - 'lipoyl(octanoyl) transferase 2' SubClassOf 'gene with protein product' - 'lipoyl(octanoyl) transferase 2' SubClassOf 'candidate gene tested in' some 'Lipoyl transferase 2 deficiency' - 'lipoyl(octanoyl) transferase 2' SubClassOf 'has_chromosomal location' value "11q13.4" Class: http://www.orpha.net/ORDO/Orphanet_2646 Label(s): Parastremmatic dwarfism - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'TRPV4-related bone disorder' - 'Parastremmatic dwarfism' SubClassOf 'part_of' some 'Campomelic dysplasia and related disorders' - 'Parastremmatic dwarfism' SubClassOf 'malformation syndrome' - 'Parastremmatic dwarfism' SubClassOf 'disorder' + 'Parastremmatic dwarfism' SubClassOf 'Moved to' some 'Spondyloepiphyseal dysplasia, Maroteaux type' + 'Parastremmatic dwarfism' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_160020 Label(s): ALK receptor tyrosine kinase + 'ALK receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_412839 Label(s): SET domain containing 2, histone lysine methyltransferase - 'SET domain containing 2, histone lysine methyltransferase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Sotos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_566703 Label(s): nuclear receptor subfamily 4 group A member 2 - 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'has_chromosomal location' value "2q22-q23" + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_660012 + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'has_chromosomal location' value "2q24.1" + 'nuclear receptor subfamily 4 group A member 2' SubClassOf 'role in the phenotype of' some '2q24 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2729 Label(s): Okamoto syndrome - 'Okamoto syndrome' SubClassOf 'disorder' - 'Okamoto syndrome' SubClassOf 'malformation syndrome' - 'Okamoto syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Okamoto syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Okamoto syndrome' SubClassOf 'Moved to' some 'Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome' + 'Okamoto syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_122795 Label(s): potassium calcium-activated channel subfamily M alpha 1 - 'potassium calcium-activated channel subfamily M alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Zimmermann-Laband syndrome' + 'potassium calcium-activated channel subfamily M alpha 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_664438 Class: http://www.orpha.net/ORDO/Orphanet_420573 Label(s): Severe combined immunodeficiency due to CTPS1 deficiency + 'Severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664456 Class: http://www.orpha.net/ORDO/Orphanet_2755 Label(s): Orofaciodigital syndrome type 8 - 'Orofaciodigital syndrome type 8' SubClassOf 'part_of' some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_99097 Label(s): OBSOLETE: Single ventricular septal defect + 'OBSOLETE: Single ventricular septal defect' SubClassOf 'Referred to' some 'Rare congenital anomaly of ventricular septum' Class: http://www.orpha.net/ORDO/Orphanet_99096 Label(s): OBSOLETE: Multiple ventricular septal defects + 'OBSOLETE: Multiple ventricular septal defects' SubClassOf 'Referred to' some 'Rare congenital anomaly of ventricular septum' Class: http://www.orpha.net/ORDO/Orphanet_93424 Label(s): Perlecan-related bone disorder - 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' - 'Perlecan-related bone disorder' SubClassOf 'group of disorders' + 'Perlecan-related bone disorder' SubClassOf 'obsolete group of disorder' + 'Perlecan-related bone disorder' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_674499 Class: http://www.orpha.net/ORDO/Orphanet_470170 Label(s): death domain associated protein - 'death domain associated protein' SubClassOf 'gene with protein product' - 'death domain associated protein' SubClassOf 'has_chromosomal location' value "6p21.32" - 'death domain associated protein' SubClassOf 'candidate gene tested in' some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_1617 Label(s): 2q24 microdeletion syndrome - '2q24 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q24 microdeletion syndrome' SubClassOf 'disorder' - '2q24 microdeletion syndrome' SubClassOf 'part_of' some 'Chromosomal anomaly with cataract' + '2q24 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_660017 + '2q24 microdeletion syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_280379 Label(s): Erythropoietic uroporphyria associated with myeloid malignancy - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'part_of' some 'Porphyria' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_659681 Class: http://www.orpha.net/ORDO/Orphanet_42775 Label(s): PHACE syndrome - 'PHACE syndrome' SubClassOf 'part_of' some 'Vascular tumor with associated anomalies' + 'PHACE syndrome' SubClassOf 'part_of' some 'Infantile hemangioma of rare localization' Class: http://www.orpha.net/ORDO/Orphanet_470128 Label(s): coenzyme Q7, hydroxylase + 'coenzyme Q7, hydroxylase' SubClassOf 'disease-causing germline mutation(s) in' some 'COQ7-related distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_119027 Label(s): brain derived neurotrophic factor - 'brain derived neurotrophic factor' SubClassOf 'modifying germline mutation in' some 'WAGR syndrome' + 'brain derived neurotrophic factor' SubClassOf 'role in the phenotype of' some 'WAGR syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2752 Label(s): Orofaciodigital syndrome type 3 - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Rare genetic disorder of the pupil' - 'Orofaciodigital syndrome type 3' SubClassOf 'disorder' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Rare disorder of the pupil' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Orofaciodigital syndrome type 3' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Orofaciodigital syndrome type 3' SubClassOf 'malformation syndrome' + 'Orofaciodigital syndrome type 3' SubClassOf 'Moved to' some 'Orofaciodigital syndrome type 6' + 'Orofaciodigital syndrome type 3' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_159048 Label(s): TNF superfamily member 11 - 'TNF superfamily member 11' SubClassOf 'has_chromosomal location' value "13q14" + 'TNF superfamily member 11' SubClassOf 'has_chromosomal location' value "13q14.11" Class: http://www.orpha.net/ORDO/Orphanet_159521 Label(s): major facilitator superfamily domain containing 8 - 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN7 disease' Class: http://www.orpha.net/ORDO/Orphanet_329481 Label(s): Lipoprotein glomerulopathy - 'Lipoprotein glomerulopathy' SubClassOf 'part_of' some 'Genetic systemic disease with glomerulopathy as a major feature' + 'Lipoprotein glomerulopathy' SubClassOf 'part_of' some 'Genetic glomerular disease' + 'Lipoprotein glomerulopathy' SubClassOf 'part_of' some 'Glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_2878 Label(s): Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'part_of' some 'Ectrodactyly with and without other manifestations' - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects' - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'malformation syndrome' - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'disorder' - 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects' + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'Referred to' some 'Syndrome with limb reduction defects' + 'Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_502623 Label(s): signal recognition particle 54 - 'signal recognition particle 54' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' - 'signal recognition particle 54' SubClassOf 'disease-causing germline mutation(s) in' some 'Shwachman-Diamond syndrome' + 'signal recognition particle 54' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_675767 Class: http://www.orpha.net/ORDO/Orphanet_238505 Label(s): Combined immunodeficiency due to CD27 deficiency - 'Combined immunodeficiency due to CD27 deficiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Combined immunodeficiency due to CD27 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Combined immunodeficiency due to CD27 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to CD27 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664734 Class: http://www.orpha.net/ORDO/Orphanet_2756 Label(s): Orofaciodigital syndrome type 10 - 'Orofaciodigital syndrome type 10' SubClassOf 'disorder' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Orofaciodigital syndrome' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Orofaciodigital syndrome type 10' SubClassOf 'malformation syndrome' - 'Orofaciodigital syndrome type 10' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofaciodigital syndrome type 10' SubClassOf 'obsolete disorder' + 'Orofaciodigital syndrome type 10' SubClassOf 'Referred to' some 'Orofaciodigital syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238510 Label(s): Lymphoproliferative syndrome - 'Lymphoproliferative syndrome' SubClassOf 'group of disorders' - 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' - 'Lymphoproliferative syndrome' SubClassOf 'Rare disorder potentially indicated for hematopoietic stem cell transplant' - 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' + 'Lymphoproliferative syndrome' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Lymphoproliferative syndrome' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_474489 Label(s): complement factor H related 4 - 'complement factor H related 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' - 'complement factor H related 4' SubClassOf 'has_chromosomal location' value "1q31.3" - 'complement factor H related 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_617916 Label(s): Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia - 'Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood' + 'Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia' SubClassOf 'part_of' some 'Rare bronchopulmonary tumor' Class: http://www.orpha.net/ORDO/Orphanet_159489 Label(s): cathepsin D - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' + 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN10 disease' Class: http://www.orpha.net/ORDO/Orphanet_509260 Label(s): spen family transcriptional repressor - 'spen family transcriptional repressor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some '1p36 deletion syndrome' + 'spen family transcriptional repressor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_662234 Class: http://www.orpha.net/ORDO/Orphanet_470022 Label(s): cilia and flagella associated protein 410 + 'cilia and flagella associated protein 410' SubClassOf 'disease-causing germline mutation(s) in' some 'Cone rod dystrophy-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159118 Label(s): zinc finger protein 41 - 'zinc finger protein 41' SubClassOf 'gene with protein product' - 'zinc finger protein 41' SubClassOf 'has_chromosomal location' value "Xp11.3" - 'zinc finger protein 41' SubClassOf 'candidate gene tested in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_402744 Label(s): protein tyrosine phosphatase non-receptor type 3 - 'protein tyrosine phosphatase non-receptor type 3' SubClassOf 'has_chromosomal location' value "9q31" + 'protein tyrosine phosphatase non-receptor type 3' SubClassOf 'has_chromosomal location' value "9q31.3" Class: http://www.orpha.net/ORDO/Orphanet_360224 Label(s): G protein subunit alpha 11 + 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_675359 Class: http://www.orpha.net/ORDO/Orphanet_308114 Label(s): FANCD2 and FANCI associated nuclease 1 - 'FANCD2 and FANCI associated nuclease 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Lynch syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364602 Label(s): growth differentiation factor 2 + 'growth differentiation factor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Heritable pulmonary arterial hypertension' Class: http://www.orpha.net/ORDO/Orphanet_90079 Label(s): OBSOLETE: Anthracycline extravasation + 'OBSOLETE: Anthracycline extravasation' SubClassOf 'Referred to' some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_2442 Label(s): X-linked lymphoproliferative disease - 'X-linked lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' - 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' + 'X-linked lymphoproliferative disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_664734 Class: http://www.orpha.net/ORDO/Orphanet_538958 Label(s): Combined immunodeficiency due to CD70 deficiency - 'Combined immunodeficiency due to CD70 deficiency' SubClassOf 'part_of' some 'Lymphoproliferative syndrome' + 'Combined immunodeficiency due to CD70 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to CD70 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664450 + 'Combined immunodeficiency due to CD70 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_664456 Class: http://www.orpha.net/ORDO/Orphanet_329324 Label(s): Inverse Klippel-Trénaunay syndrome - 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'part_of' some 'Vascular tumor with associated anomalies' + 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_330232 Label(s): immunoglobulin superfamily member 1 - 'immunoglobulin superfamily member 1' SubClassOf 'has_chromosomal location' value "Xq25" + 'immunoglobulin superfamily member 1' SubClassOf 'has_chromosomal location' value "Xq26.1" Class: http://www.orpha.net/ORDO/Orphanet_2968 Label(s): Leukocyte adhesion deficiency - 'Leukocyte adhesion deficiency' SubClassOf 'part_of' some 'Functional neutrophil defect' + 'Leukocyte adhesion deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_674648 Class: http://www.orpha.net/ORDO/Orphanet_120783 Label(s): coproporphyrinogen oxidase + 'coproporphyrinogen oxidase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_659672 Class: http://www.orpha.net/ORDO/Orphanet_189135 Label(s): membrane bound transcription factor peptidase, site 2 + 'membrane bound transcription factor peptidase, site 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 4' + 'membrane bound transcription factor peptidase, site 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Osteogenesis imperfecta type 3' Class: http://www.orpha.net/ORDO/Orphanet_120716 Label(s): collagen type IV alpha 1 chain - 'collagen type IV alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Walker-Warburg syndrome' + 'collagen type IV alpha 1 chain' SubClassOf 'candidate gene tested in' some 'Walker-Warburg syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120710 Label(s): collagen type II alpha 1 chain - 'collagen type II alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Multiple epiphyseal dysplasia, Beighton type' Class: http://www.orpha.net/ORDO/Orphanet_364577 Label(s): Intellectual disability-brachydactyly-Pierre Robin syndrome - 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_101096 Label(s): Aregenerative anemia - 'Aregenerative anemia' SubClassOf 'part_of' some 'Refractory cytopenia with multilineage dysplasia' - 'Aregenerative anemia' SubClassOf 'disease' - 'Aregenerative anemia' SubClassOf 'disorder' + 'Aregenerative anemia' SubClassOf 'obsolete disorder' + 'Aregenerative anemia' SubClassOf 'Referred to' some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52430 Label(s): Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' Class: http://www.orpha.net/ORDO/Orphanet_329475 Label(s): Spastic paraplegia-Paget disease of bone syndrome - 'Spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with disorganized development of skeletal components' Class: http://www.orpha.net/ORDO/Orphanet_2308 Label(s): Jacobsen syndrome + 'Jacobsen syndrome' SubClassOf 'part_of' some 'Immunodeficiency due to absence of thymus' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_676489 Label(s): RNA binding motif protein X-linked + 'RNA binding motif protein X-linked' SubClassOf 'gene with protein product' + 'RNA binding motif protein X-linked' SubClassOf 'has_chromosomal location' value "Xq26.3" + 'RNA binding motif protein X-linked' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Shashi type' Class: http://www.orpha.net/ORDO/Orphanet_659908 Label(s): Glanders + 'Glanders' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Glanders' SubClassOf 'disease' + 'Glanders' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_663918 Label(s): ATPase H+ transporting V0 subunit a1 + 'ATPase H+ transporting V0 subunit a1' SubClassOf 'gene with protein product' + 'ATPase H+ transporting V0 subunit a1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'ATPase H+ transporting V0 subunit a1' SubClassOf 'has_chromosomal location' value "17q21.2" Class: http://www.orpha.net/ORDO/Orphanet_663910 Label(s): ciliated left-right organizer metallopeptidase + 'ciliated left-right organizer metallopeptidase' SubClassOf 'has_chromosomal location' value "14q11.2" + 'ciliated left-right organizer metallopeptidase' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' + 'ciliated left-right organizer metallopeptidase' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs inversus totalis' + 'ciliated left-right organizer metallopeptidase' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_663850 Label(s): N-ribosyldihydronicotinamide:quinone dehydrogenase 2 + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'gene with protein product' + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'has_chromosomal location' value "6p25.2" Class: http://www.orpha.net/ORDO/Orphanet_673585 Label(s): Pilocytic astrocytoma with histological features of anaplasia + 'Pilocytic astrocytoma with histological features of anaplasia' SubClassOf 'part_of' some 'Pilocytic astrocytoma' + 'Pilocytic astrocytoma with histological features of anaplasia' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_673580 Label(s): Classic pilocytic astrocytoma + 'Classic pilocytic astrocytoma' SubClassOf 'subtype of a disorder' + 'Classic pilocytic astrocytoma' SubClassOf 'part_of' some 'Pilocytic astrocytoma' Class: http://www.orpha.net/ORDO/Orphanet_673574 Label(s): Reactive angioendotheliomatosis + 'Reactive angioendotheliomatosis' SubClassOf 'disorder' + 'Reactive angioendotheliomatosis' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Reactive angioendotheliomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_673568 Label(s): Eccrine angiomatous hamartoma + 'Eccrine angiomatous hamartoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Eccrine angiomatous hamartoma' SubClassOf 'disease' + 'Eccrine angiomatous hamartoma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Eccrine angiomatous hamartoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_675359 Label(s): Anastomosing haemangioma + 'Anastomosing haemangioma' SubClassOf 'disorder' + 'Anastomosing haemangioma' SubClassOf 'part_of' some 'Rare genetic vascular tumor' + 'Anastomosing haemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Anastomosing haemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_675362 Label(s): Hobnail hemangioma + 'Hobnail hemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Hobnail hemangioma' SubClassOf 'disorder' + 'Hobnail hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_673543 Label(s): Papillary hemangioma + 'Papillary hemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Papillary hemangioma' SubClassOf 'disorder' + 'Papillary hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_673538 Label(s): Littoral cell hemangioma of the spleen + 'Littoral cell hemangioma of the spleen' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Littoral cell hemangioma of the spleen' SubClassOf 'disorder' + 'Littoral cell hemangioma of the spleen' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_494899 Label(s): EBF transcription factor 3 + 'EBF transcription factor 3' SubClassOf 'has_chromosomal location' value "10q26.3" + 'EBF transcription factor 3' SubClassOf 'gene with protein product' + 'EBF transcription factor 3' SubClassOf 'role in the phenotype of' some 'Distal deletion 10q' + 'EBF transcription factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_673525 Label(s): Intravascular papillary endothelial hyperplasia + 'Intravascular papillary endothelial hyperplasia' SubClassOf 'disease' + 'Intravascular papillary endothelial hyperplasia' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Intravascular papillary endothelial hyperplasia' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Intravascular papillary endothelial hyperplasia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_675396 Label(s): Epithelioid hemangioma + 'Epithelioid hemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Epithelioid hemangioma' SubClassOf 'disorder' + 'Epithelioid hemangioma' SubClassOf 'part_of' some 'Rare genetic vascular tumor' + 'Epithelioid hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_659873 Label(s): Wormian bones-micrognathia-abnormal dentition-progeroid syndrome + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'malformation syndrome' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'disorder' + 'Wormian bones-micrognathia-abnormal dentition-progeroid syndrome' SubClassOf 'part_of' some 'Genetic progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_572421 Label(s): heterogeneous nuclear ribonucleoprotein H2 + 'heterogeneous nuclear ribonucleoprotein H2' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurodevelopmental delay-intellectual disability-skeletal defects syndrome' + 'heterogeneous nuclear ribonucleoprotein H2' SubClassOf 'has_chromosomal location' value "Xq22.1" + 'heterogeneous nuclear ribonucleoprotein H2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_594394 Label(s): dedicator of cytokinesis 11 + 'dedicator of cytokinesis 11' SubClassOf 'gene with protein product' + 'dedicator of cytokinesis 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency' + 'dedicator of cytokinesis 11' SubClassOf 'has_chromosomal location' value "Xq24" Class: http://www.orpha.net/ORDO/Orphanet_469958 Label(s): archain 1 + 'archain 1' SubClassOf 'has_chromosomal location' value "11q23.3" + 'archain 1' SubClassOf 'gene with protein product' + 'archain 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' Class: http://www.orpha.net/ORDO/Orphanet_673473 Label(s): Borderline vascular tumor + 'Borderline vascular tumor' SubClassOf 'Rare vascular tumor' + 'Borderline vascular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_673470 Label(s): Benign vascular tumor + 'Benign vascular tumor' SubClassOf 'Rare vascular tumor' + 'Benign vascular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_673466 Label(s): Malignant vascular tumor + 'Malignant vascular tumor' SubClassOf 'Rare vascular tumor' + 'Malignant vascular tumor' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_659759 Label(s): Verruga peruana + 'Verruga peruana' SubClassOf 'part_of' some 'Bartonella bacilliformis infection' + 'Verruga peruana' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_659756 Label(s): Oroya fever + 'Oroya fever' SubClassOf 'part_of' some 'Bartonella bacilliformis infection' + 'Oroya fever' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_659712 Label(s): Rare yersiniosis + 'Rare yersiniosis' SubClassOf 'group of disorders' + 'Rare yersiniosis' SubClassOf 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_659707 Label(s): Yersinia pseudotuberculosis infection + 'Yersinia pseudotuberculosis infection' SubClassOf 'disease' + 'Yersinia pseudotuberculosis infection' SubClassOf 'disorder' + 'Yersinia pseudotuberculosis infection' SubClassOf 'part_of' some 'Rare yersiniosis' Class: http://www.orpha.net/ORDO/Orphanet_600297 Label(s): heterogeneous nuclear ribonucleoprotein R + 'heterogeneous nuclear ribonucleoprotein R' SubClassOf 'gene with protein product' + 'heterogeneous nuclear ribonucleoprotein R' SubClassOf 'has_chromosomal location' value "1p36.12" + 'heterogeneous nuclear ribonucleoprotein R' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_659698 Label(s): Hepatic cutaneous porphyria + 'Hepatic cutaneous porphyria' SubClassOf 'group of disorders' + 'Hepatic cutaneous porphyria' SubClassOf 'Hepatic porphyria' Class: http://www.orpha.net/ORDO/Orphanet_659694 Label(s): Hepatic porphyria + 'Hepatic porphyria' SubClassOf 'Porphyria' + 'Hepatic porphyria' SubClassOf 'Rare metabolic liver disease' + 'Hepatic porphyria' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_659681 Label(s): Erythropoietic porphyria + 'Erythropoietic porphyria' SubClassOf 'group of disorders' + 'Erythropoietic porphyria' SubClassOf 'Porphyria' Class: http://www.orpha.net/ORDO/Orphanet_659672 Label(s): Harderoporphyria + 'Harderoporphyria' SubClassOf 'disorder' + 'Harderoporphyria' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to an enzyme disorder' + 'Harderoporphyria' SubClassOf 'part_of' some 'Erythropoietic porphyria' + 'Harderoporphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_597042 Label(s): ribosomal protein L13 + 'ribosomal protein L13' SubClassOf 'gene with protein product' + 'ribosomal protein L13' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Spondyloepimetaphyseal dysplasia, Isidor-Toutain type' + 'ribosomal protein L13' SubClassOf 'has_chromosomal location' value "16q24.3" Class: http://www.orpha.net/ORDO/Orphanet_659642 Label(s): Rauch-Steindl syndrome + 'Rauch-Steindl syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Rauch-Steindl syndrome' SubClassOf 'subtype of a disorder' + 'Rauch-Steindl syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Rauch-Steindl syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Rauch-Steindl syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Rauch-Steindl syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_659626 Label(s): Single isolated optic neuritis + 'Single isolated optic neuritis' SubClassOf 'part_of' some 'Isolated optic neuritis' + 'Single isolated optic neuritis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_675976 Label(s): Adenomatoid tumour of the peritoneum + 'Adenomatoid tumour of the peritoneum' SubClassOf 'disorder' + 'Adenomatoid tumour of the peritoneum' SubClassOf 'part_of' some 'Primary benign peritoneal tumor' + 'Adenomatoid tumour of the peritoneum' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_659609 Label(s): Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'disorder' + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_674653 Label(s): Actinomyopathy-associated syndromic thrombocytopenia + 'Actinomyopathy-associated syndromic thrombocytopenia' SubClassOf 'disorder' + 'Actinomyopathy-associated syndromic thrombocytopenia' SubClassOf 'disease' + 'Actinomyopathy-associated syndromic thrombocytopenia' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Actinomyopathy-associated syndromic thrombocytopenia' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' + 'Actinomyopathy-associated syndromic thrombocytopenia' SubClassOf 'part_of' some 'Syndrome with congenital phagocyte functional defect as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_600559 Label(s): zinc finger protein 142 + 'zinc finger protein 142' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger protein 142' SubClassOf 'gene with protein product' + 'zinc finger protein 142' SubClassOf 'has_chromosomal location' value "2q35" Class: http://www.orpha.net/ORDO/Orphanet_660763 Label(s): angiomotin like 1 + 'angiomotin like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' + 'angiomotin like 1' SubClassOf 'gene with protein product' + 'angiomotin like 1' SubClassOf 'has_chromosomal location' value "11q21" Class: http://www.orpha.net/ORDO/Orphanet_676039 Label(s): Combined immunodeficiency due to FOXN1 haploinsufficiency + 'Combined immunodeficiency due to FOXN1 haploinsufficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to FOXN1 haploinsufficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to FOXN1 haploinsufficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_676036 Label(s): Peritoneal mesothelioma in situ + 'Peritoneal mesothelioma in situ' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' + 'Peritoneal mesothelioma in situ' SubClassOf 'disease' + 'Peritoneal mesothelioma in situ' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_676030 Label(s): Primary benign peritoneal tumor + 'Primary benign peritoneal tumor' SubClassOf 'group of disorders' + 'Primary benign peritoneal tumor' SubClassOf 'Primary peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_664787 Label(s): Nicolau syndrome + 'Nicolau syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Nicolau syndrome' SubClassOf 'disorder' + 'Nicolau syndrome' SubClassOf 'Clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600435 Label(s): POU class 3 homeobox 3 + 'POU class 3 homeobox 3' SubClassOf 'has_chromosomal location' value "2q12.1" + 'POU class 3 homeobox 3' SubClassOf 'gene with protein product' + 'POU class 3 homeobox 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-cupped ears syndrome' Class: http://www.orpha.net/ORDO/Orphanet_675841 Label(s): Pleural mesothelioma in situ + 'Pleural mesothelioma in situ' SubClassOf 'subtype of a disorder' + 'Pleural mesothelioma in situ' SubClassOf 'part_of' some 'Pleural mesothelioma' Class: http://www.orpha.net/ORDO/Orphanet_529660 Label(s): ATPase family AAA domain containing 3B + 'ATPase family AAA domain containing 3B' SubClassOf 'gene with protein product' + 'ATPase family AAA domain containing 3B' SubClassOf 'role in the phenotype of' some '1p36.33 duplication syndrome' + 'ATPase family AAA domain containing 3B' SubClassOf 'has_chromosomal location' value "1p36.33" Class: http://www.orpha.net/ORDO/Orphanet_675833 Label(s): Localized pleural mesothelioma + 'Localized pleural mesothelioma' SubClassOf 'part_of' some 'Pleural mesothelioma' + 'Localized pleural mesothelioma' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_471090 Label(s): solute carrier family 4 member 10 + 'solute carrier family 4 member 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome' + 'solute carrier family 4 member 10' SubClassOf 'gene with protein product' + 'solute carrier family 4 member 10' SubClassOf 'has_chromosomal location' value "2q24.2" Class: http://www.orpha.net/ORDO/Orphanet_675775 Label(s): Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'disorder' + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'disease' + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'part_of' some 'Metabolic neurotransmission anomaly with epilepsy' + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'part_of' some 'Myeloproliferative neoplasm' + 'Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_659463 Label(s): Imagawa-Matsumoto syndrome + 'Imagawa-Matsumoto syndrome' SubClassOf 'malformation syndrome' + 'Imagawa-Matsumoto syndrome' SubClassOf 'disorder' + 'Imagawa-Matsumoto syndrome' SubClassOf 'part_of' some 'PRC-2 complex-related overgrowth spectrum' Class: http://www.orpha.net/ORDO/Orphanet_600449 Label(s): proline rich 12 + 'proline rich 12' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' + 'proline rich 12' SubClassOf 'has_chromosomal location' value "19q13.33" + 'proline rich 12' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_675767 Label(s): Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency + 'Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency' SubClassOf 'part_of' some 'Syndrome with congenital neutropenia as a major feature' + 'Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency' SubClassOf 'disorder' + 'Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_659904 Label(s): Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'disorder' + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'malformation syndrome' + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Structural developmental eye defect of genetic origin' + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Structural developmental eye defect' + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_661526 Label(s): MBD4-related tumor predisposition syndrome + 'MBD4-related tumor predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'MBD4-related tumor predisposition syndrome' SubClassOf 'disease' + 'MBD4-related tumor predisposition syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_663458 Label(s): chromodomain helicase DNA binding protein 6 + 'chromodomain helicase DNA binding protein 6' SubClassOf 'has_chromosomal location' value "20q12" + 'chromodomain helicase DNA binding protein 6' SubClassOf 'gene with protein product' + 'chromodomain helicase DNA binding protein 6' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hallermann-Streiff syndrome' Class: http://www.orpha.net/ORDO/Orphanet_664923 Label(s): Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'disorder' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'disease' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_665058 Label(s): Common arterial trunk with pulmonary dominance and interrupted aortic arch + 'Common arterial trunk with pulmonary dominance and interrupted aortic arch' SubClassOf 'part_of' some 'Common arterial trunk' + 'Common arterial trunk with pulmonary dominance and interrupted aortic arch' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_672979 Label(s): Craniosynostosis-facial dysmorphism-brachydactyly syndrome + 'Craniosynostosis-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' + 'Craniosynostosis-facial dysmorphism-brachydactyly syndrome' SubClassOf 'disorder' + 'Craniosynostosis-facial dysmorphism-brachydactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_672985 Label(s): Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome + 'Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome' SubClassOf 'disorder' + 'Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome' SubClassOf 'malformation syndrome' + 'Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_673556 Label(s): Pseudomyogenic hemangioendothelioma + 'Pseudomyogenic hemangioendothelioma' SubClassOf 'part_of' some 'Rare genetic vascular tumor' + 'Pseudomyogenic hemangioendothelioma' SubClassOf 'part_of' some 'Borderline vascular tumor' + 'Pseudomyogenic hemangioendothelioma' SubClassOf 'disorder' + 'Pseudomyogenic hemangioendothelioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_674930 Label(s): Perifoveal exudative vascular anomalous complex + 'Perifoveal exudative vascular anomalous complex' SubClassOf 'disease' + 'Perifoveal exudative vascular anomalous complex' SubClassOf 'disorder' + 'Perifoveal exudative vascular anomalous complex' SubClassOf 'part_of' some 'Rare retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_675628 Label(s): TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome + 'TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome' SubClassOf 'part_of' some 'Syndrome with congenital neutropenia as a major feature' + 'TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome' SubClassOf 'disease' + 'TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome' SubClassOf 'part_of' some 'Immunodeficiency-associated lymphoproliferative disease' + 'TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_676125 Label(s): X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'disorder' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_682951 Label(s): toll like receptor 8 + 'toll like receptor 8' SubClassOf 'has_chromosomal location' value "Xp22.2" + 'toll like receptor 8' SubClassOf 'gene with protein product' + 'toll like receptor 8' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_675782 Label(s): Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + 'Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN' SubClassOf 'disease' + 'Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN' SubClassOf 'disorder' + 'Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN' SubClassOf 'part_of' some 'Disorder of lysosomal-related organelles' Class: http://www.orpha.net/ORDO/Orphanet_584317 Label(s): ceramide transporter 1 + 'ceramide transporter 1' SubClassOf 'has_chromosomal location' value "5q13.3" + 'ceramide transporter 1' SubClassOf 'gene with protein product' + 'ceramide transporter 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_675814 Label(s): Adenomatoid tumour of the pleura + 'Adenomatoid tumour of the pleura' SubClassOf 'part_of' some 'Rare bronchopulmonary and pleural cavity tumors' + 'Adenomatoid tumour of the pleura' SubClassOf 'disorder' + 'Adenomatoid tumour of the pleura' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_659396 Label(s): Cohen-Gibson syndrome + 'Cohen-Gibson syndrome' SubClassOf 'part_of' some 'PRC-2 complex-related overgrowth spectrum' + 'Cohen-Gibson syndrome' SubClassOf 'disorder' + 'Cohen-Gibson syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_659387 Label(s): PRC-2 complex-related overgrowth spectrum + 'PRC-2 complex-related overgrowth spectrum' SubClassOf 'Overgrowth syndrome' + 'PRC-2 complex-related overgrowth spectrum' SubClassOf 'Overgrowth or tall stature syndrome with skeletal involvement' + 'PRC-2 complex-related overgrowth spectrum' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PRC-2 complex-related overgrowth spectrum' SubClassOf 'group of disorders' + 'PRC-2 complex-related overgrowth spectrum' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_672842 Label(s): guided entry of tail-anchored proteins factor 3, ATPase + 'guided entry of tail-anchored proteins factor 3, ATPase' SubClassOf 'gene with protein product' + 'guided entry of tail-anchored proteins factor 3, ATPase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated dilated cardiomyopathy' + 'guided entry of tail-anchored proteins factor 3, ATPase' SubClassOf 'has_chromosomal location' value "19p13.13" Class: http://www.orpha.net/ORDO/Orphanet_675822 Label(s): Well-differentiated papillary mesothelial tumour of the pleura + 'Well-differentiated papillary mesothelial tumour of the pleura' SubClassOf 'part_of' some 'Rare bronchopulmonary and pleural cavity tumors' + 'Well-differentiated papillary mesothelial tumour of the pleura' SubClassOf 'disease' + 'Well-differentiated papillary mesothelial tumour of the pleura' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_675216 Label(s): Spinocerebellar ataxia type 27B + 'Spinocerebellar ataxia type 27B' SubClassOf 'disease' + 'Spinocerebellar ataxia type 27B' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type I' + 'Spinocerebellar ataxia type 27B' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_675837 Label(s): Diffused pleural mesothelioma + 'Diffused pleural mesothelioma' SubClassOf 'subtype of a disorder' + 'Diffused pleural mesothelioma' SubClassOf 'part_of' some 'Pleural mesothelioma' Class: http://www.orpha.net/ORDO/Orphanet_659634 Label(s): Relapsing isolated optic neuritis + 'Relapsing isolated optic neuritis' SubClassOf 'subtype of a disorder' + 'Relapsing isolated optic neuritis' SubClassOf 'part_of' some 'Isolated optic neuritis' Class: http://www.orpha.net/ORDO/Orphanet_676033 Label(s): Well-differentiated papillary mesothelial tumour of the peritoneum + 'Well-differentiated papillary mesothelial tumour of the peritoneum' SubClassOf 'disease' + 'Well-differentiated papillary mesothelial tumour of the peritoneum' SubClassOf 'disorder' + 'Well-differentiated papillary mesothelial tumour of the peritoneum' SubClassOf 'part_of' some 'Primary benign peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_663289 Label(s): actin related protein 2/3 complex subunit 4 + 'actin related protein 2/3 complex subunit 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' + 'actin related protein 2/3 complex subunit 4' SubClassOf 'gene with protein product' + 'actin related protein 2/3 complex subunit 4' SubClassOf 'has_chromosomal location' value "3p25.3" Class: http://www.orpha.net/ORDO/Orphanet_659702 Label(s): Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'disorder' + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'malformation syndrome' + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_659744 Label(s): Ocular surface squamous neoplasia + 'Ocular surface squamous neoplasia' SubClassOf 'disorder' + 'Ocular surface squamous neoplasia' SubClassOf 'part_of' some 'Rare eye tumor' + 'Ocular surface squamous neoplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_683067 Label(s): mab-21 like 1 + 'mab-21 like 1' SubClassOf 'has_chromosomal location' value "13q13.3" + 'mab-21 like 1' SubClassOf 'gene with protein product' + 'mab-21 like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600070 Label(s): ATPase family AAA domain containing 3C + 'ATPase family AAA domain containing 3C' SubClassOf 'gene with protein product' + 'ATPase family AAA domain containing 3C' SubClassOf 'has_chromosomal location' value "1p36.33" + 'ATPase family AAA domain containing 3C' SubClassOf 'role in the phenotype of' some '1p36.33 duplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_663868 Label(s): potassium voltage-gated channel subfamily C member 2 + 'potassium voltage-gated channel subfamily C member 2' SubClassOf 'gene with protein product' + 'potassium voltage-gated channel subfamily C member 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific early-onset epileptic encephalopathy' + 'potassium voltage-gated channel subfamily C member 2' SubClassOf 'has_chromosomal location' value "12q21.1" Class: http://www.orpha.net/ORDO/Orphanet_660012 Label(s): Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation' SubClassOf 'subtype of a disorder' + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation' SubClassOf 'part_of' some 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_600904 Label(s): Sp6 transcription factor + 'Sp6 transcription factor' SubClassOf 'has_chromosomal location' value "17q21.32" + 'Sp6 transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' + 'Sp6 transcription factor' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_600936 Label(s): ubiquitin like with PHD and ring finger domains 1 + 'ubiquitin like with PHD and ring finger domains 1' SubClassOf 'has_chromosomal location' value "19p13.3" + 'ubiquitin like with PHD and ring finger domains 1' SubClassOf 'disease-causing germline mutation(s) in' some 'ICF syndrome' + 'ubiquitin like with PHD and ring finger domains 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_675369 Label(s): Microvenular haemangioma + 'Microvenular haemangioma' SubClassOf 'disease' + 'Microvenular haemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Microvenular haemangioma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_660053 Label(s): Psittacosis + 'Psittacosis' SubClassOf 'disorder' + 'Psittacosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Psittacosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_662829 Label(s): Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' SubClassOf 'disorder' + 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_664699 Label(s): EBV-induced lymphoproliferative disease due to RASGRP1 deficiency + 'EBV-induced lymphoproliferative disease due to RASGRP1 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' + 'EBV-induced lymphoproliferative disease due to RASGRP1 deficiency' SubClassOf 'disorder' + 'EBV-induced lymphoproliferative disease due to RASGRP1 deficiency' SubClassOf 'disease' + 'EBV-induced lymphoproliferative disease due to RASGRP1 deficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_659975 Label(s): Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome + 'Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome' SubClassOf 'disorder' + 'Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_508946 Label(s): BCL11 transcription factor B + 'BCL11 transcription factor B' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' + 'BCL11 transcription factor B' SubClassOf 'gene with protein product' + 'BCL11 transcription factor B' SubClassOf 'has_chromosomal location' value "14q32.2" Class: http://www.orpha.net/ORDO/Orphanet_662762 Label(s): Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome + 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' SubClassOf 'disorder' + 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_662721 Label(s): Placenta accreta spectrum disorder + 'Placenta accreta spectrum disorder' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Placenta accreta spectrum disorder' SubClassOf 'disorder' + 'Placenta accreta spectrum disorder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_470292 Label(s): erbb2 interacting protein + 'erbb2 interacting protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' + 'erbb2 interacting protein' SubClassOf 'gene with protein product' + 'erbb2 interacting protein' SubClassOf 'has_chromosomal location' value "5q12.3" Class: http://www.orpha.net/ORDO/Orphanet_661412 Label(s): Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency + 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'disease' + 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' + 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' + 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_660030 Label(s): PR/SET domain 10 + 'PR/SET domain 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Birt-Hogg-Dubé syndrome' + 'PR/SET domain 10' SubClassOf 'gene with protein product' + 'PR/SET domain 10' SubClassOf 'has_chromosomal location' value "11q24.3" Class: http://www.orpha.net/ORDO/Orphanet_509262 Label(s): speckle type BTB/POZ protein + 'speckle type BTB/POZ protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome' + 'speckle type BTB/POZ protein' SubClassOf 'has_chromosomal location' value "17q21.33" + 'speckle type BTB/POZ protein' SubClassOf 'gene with protein product' + 'speckle type BTB/POZ protein' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_660021 Label(s): Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome + 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' SubClassOf 'disorder' + 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' + 'Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_660017 Label(s): Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome' SubClassOf 'disorder' + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome' SubClassOf 'disease' + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome' SubClassOf 'part_of' some 'Rare disorder with dystonia and other neurologic or systemic manifestation' Class: http://www.orpha.net/ORDO/Orphanet_674968 Label(s): Bilateral diffuse uveal melanocytic proliferation disease + 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'disorder' + 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_674965 Label(s): Choroidal osteoma + 'Choroidal osteoma' SubClassOf 'part_of' some 'Rare eye tumor' + 'Choroidal osteoma' SubClassOf 'disease' + 'Choroidal osteoma' SubClassOf 'disorder' + 'Choroidal osteoma' SubClassOf 'part_of' some 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_674958 Label(s): Stellate multiform amelanotic choroidopathy + 'Stellate multiform amelanotic choroidopathy' SubClassOf 'disease' + 'Stellate multiform amelanotic choroidopathy' SubClassOf 'disorder' + 'Stellate multiform amelanotic choroidopathy' SubClassOf 'part_of' some 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_674953 Label(s): Multiple evanescent white dot syndrome + 'Multiple evanescent white dot syndrome' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Multiple evanescent white dot syndrome' SubClassOf 'disease' + 'Multiple evanescent white dot syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_674947 Label(s): Diffuse unilateral subacute neuroretinitis + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'disorder' + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_674943 Label(s): Isolated angioid streaks + 'Isolated angioid streaks' SubClassOf 'disease' + 'Isolated angioid streaks' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Isolated angioid streaks' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_674935 Label(s): Torpedo Maculopathy + 'Torpedo Maculopathy' SubClassOf 'disorder' + 'Torpedo Maculopathy' SubClassOf 'disease' + 'Torpedo Maculopathy' SubClassOf 'part_of' some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_470116 Label(s): collagen beta(1-O)galactosyltransferase 1 + 'collagen beta(1-O)galactosyltransferase 1' SubClassOf 'has_chromosomal location' value "19p13.11" + 'collagen beta(1-O)galactosyltransferase 1' SubClassOf 'gene with protein product' + 'collagen beta(1-O)galactosyltransferase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial porencephaly' Class: http://www.orpha.net/ORDO/Orphanet_470064 Label(s): cadherin EGF LAG seven-pass G-type receptor 1 + 'cadherin EGF LAG seven-pass G-type receptor 1' SubClassOf 'has_chromosomal location' value "22q13.31" + 'cadherin EGF LAG seven-pass G-type receptor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'CELSR1-related late-onset primary lymphedema' + 'cadherin EGF LAG seven-pass G-type receptor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_664401 Label(s): Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + 'Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation' SubClassOf 'subtype of a disorder' + 'Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation' SubClassOf 'part_of' some 'Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_664404 Label(s): 6q25.1 microdeletion syndrome + '6q25.1 microdeletion syndrome' SubClassOf 'subtype of a disorder' + '6q25.1 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 6' + '6q25.1 microdeletion syndrome' SubClassOf 'part_of' some 'Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_664416 Label(s): Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation' SubClassOf 'subtype of a disorder' + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation' SubClassOf 'part_of' some 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_664450 Label(s): Inherited cancer-predisposing lymphoproliferative syndrome + 'Inherited cancer-predisposing lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' + 'Inherited cancer-predisposing lymphoproliferative syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_662480 Label(s): Jujeno-ileal duplication + 'Jujeno-ileal duplication' SubClassOf 'subtype of a disorder' + 'Jujeno-ileal duplication' SubClassOf 'part_of' some 'Small intestine duplication' Class: http://www.orpha.net/ORDO/Orphanet_662473 Label(s): Duodenal duplication + 'Duodenal duplication' SubClassOf 'subtype of a disorder' + 'Duodenal duplication' SubClassOf 'part_of' some 'Small intestine duplication' Class: http://www.orpha.net/ORDO/Orphanet_674762 Label(s): Early-onset autoinflammatory syndrome due to A20 haploinsufficiency + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'disease' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'disorder' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome of childhood' Class: http://www.orpha.net/ORDO/Orphanet_662456 Label(s): Small intestine duplication + 'Small intestine duplication' SubClassOf 'disorder' + 'Small intestine duplication' SubClassOf 'Morphological anomaly' + 'Small intestine duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_674734 Label(s): lysine methyltransferase 5B + 'lysine methyltransferase 5B' SubClassOf 'has_chromosomal location' value "11q13.2" + 'lysine methyltransferase 5B' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'lysine methyltransferase 5B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_471244 Label(s): TNF receptor superfamily member 9 + 'TNF receptor superfamily member 9' SubClassOf 'gene with protein product' + 'TNF receptor superfamily member 9' SubClassOf 'has_chromosomal location' value "1p36.23" + 'TNF receptor superfamily member 9' SubClassOf 'disease-causing germline mutation(s) in' some 'EBV-induced lymphoproliferative disease due to CD137 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label(s): OBSOLETE: Primary peritoneal serous/papillary carcinoma + 'OBSOLETE: Primary peritoneal serous/papillary carcinoma' SubClassOf 'obsolete disorder' + 'OBSOLETE: Primary peritoneal serous/papillary carcinoma' SubClassOf 'Referred to' some 'Primary peritoneal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_662405 Label(s): Pyloric duplication + 'Pyloric duplication' SubClassOf 'disorder' + 'Pyloric duplication' SubClassOf 'part_of' some 'Non-syndromic gastroduodenal malformation' + 'Pyloric duplication' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_664511 Label(s): Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + 'Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency' SubClassOf 'subtype of a disorder' + 'Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency' SubClassOf 'Hermansky-Pudlak syndrome due to AP-3 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_664456 Label(s): Immune dysregulation disease with immunodeficiency associated with EBV susceptibility + 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' SubClassOf 'Immune dysregulation disease with immunodeficiency' + 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_470724 Label(s): N-alpha-acetyltransferase 15, NatA auxiliary subunit + 'N-alpha-acetyltransferase 15, NatA auxiliary subunit' SubClassOf 'has_chromosomal location' value "4q31.1" + 'N-alpha-acetyltransferase 15, NatA auxiliary subunit' SubClassOf 'gene with protein product' + 'N-alpha-acetyltransferase 15, NatA auxiliary subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_662392 Label(s): Colonic duplication + 'Colonic duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' + 'Colonic duplication' SubClassOf 'disorder' + 'Colonic duplication' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_662376 Label(s): Gastric duplication + 'Gastric duplication' SubClassOf 'Morphological anomaly' + 'Gastric duplication' SubClassOf 'part_of' some 'Non-syndromic gastroduodenal malformation' + 'Gastric duplication' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662367 Label(s): NESCAV syndrome + 'NESCAV syndrome' SubClassOf 'disease' + 'NESCAV syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'NESCAV syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_664901 Label(s): Trigeminal trophic syndrome + 'Trigeminal trophic syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Trigeminal trophic syndrome' SubClassOf 'part_of' some 'Cranial neuralgia' + 'Trigeminal trophic syndrome' SubClassOf 'disorder' + 'Trigeminal trophic syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_676458 Label(s): FosB proto-oncogene, AP-1 transcription factor subunit + 'FosB proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'part of a fusion gene in' some 'Pseudomyogenic hemangioendothelioma' + 'FosB proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'has_chromosomal location' value "19q13.32" + 'FosB proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_662255 Label(s): Grisel syndrome + 'Grisel syndrome' SubClassOf 'Clinical syndrome' + 'Grisel syndrome' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder' + 'Grisel syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_675380 Label(s): Isolated segmental infantile hemangioma + 'Isolated segmental infantile hemangioma' SubClassOf 'disease' + 'Isolated segmental infantile hemangioma' SubClassOf 'part_of' some 'Rare infantile hemangioma' + 'Isolated segmental infantile hemangioma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662240 Label(s): Frey syndrome + 'Frey syndrome' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' + 'Frey syndrome' SubClassOf 'Clinical syndrome' + 'Frey syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662234 Label(s): Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome + 'Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662229 Label(s): Episodic memory defect leukoencephalopathy + 'Episodic memory defect leukoencephalopathy' SubClassOf 'disease' + 'Episodic memory defect leukoencephalopathy' SubClassOf 'part_of' some 'Leukodystrophy' + 'Episodic memory defect leukoencephalopathy' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662222 Label(s): arylsulfatase family member K + 'arylsulfatase family member K' SubClassOf 'gene with protein product' + 'arylsulfatase family member K' SubClassOf 'has_chromosomal location' value "5q15" + 'arylsulfatase family member K' SubClassOf 'disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis type 10' Class: http://www.orpha.net/ORDO/Orphanet_662216 Label(s): Mucopolysaccharidosis type 10 + 'Mucopolysaccharidosis type 10' SubClassOf 'part_of' some 'Mucopolysaccharidosis' + 'Mucopolysaccharidosis type 10' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Mucopolysaccharidosis type 10' SubClassOf 'part_of' some 'Lysosomal storage disease with skeletal involvement' + 'Mucopolysaccharidosis type 10' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mucopolysaccharidosis type 10' SubClassOf 'disease' + 'Mucopolysaccharidosis type 10' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662207 Label(s): Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome + 'Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome' SubClassOf 'disorder' + 'Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_665044 Label(s): Common arterial trunk with aortic dominance + 'Common arterial trunk with aortic dominance' SubClassOf 'part_of' some 'Common arterial trunk' + 'Common arterial trunk with aortic dominance' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_664711 Label(s): EBV-induced lymphoproliferative disease due to PRKCD deficiency + 'EBV-induced lymphoproliferative disease due to PRKCD deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' + 'EBV-induced lymphoproliferative disease due to PRKCD deficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' + 'EBV-induced lymphoproliferative disease due to PRKCD deficiency' SubClassOf 'disease' + 'EBV-induced lymphoproliferative disease due to PRKCD deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_677320 Label(s): cyclin dependent kinase 8 + 'cyclin dependent kinase 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'cyclin dependent kinase 8' SubClassOf 'has_chromosomal location' value "13q12.13" + 'cyclin dependent kinase 8' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_664729 Label(s): EBV-induced lymphoproliferative disease due to TET2 deficiency + 'EBV-induced lymphoproliferative disease due to TET2 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' + 'EBV-induced lymphoproliferative disease due to TET2 deficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' + 'EBV-induced lymphoproliferative disease due to TET2 deficiency' SubClassOf 'disease' + 'EBV-induced lymphoproliferative disease due to TET2 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_667678 Label(s): Intraoral basal cell carcinoma + 'Intraoral basal cell carcinoma' SubClassOf 'disorder' + 'Intraoral basal cell carcinoma' SubClassOf 'part_of' some 'Rare odontogenic tumor' + 'Intraoral basal cell carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_667662 Label(s): Breast implant-associated anaplastic large cell lymphoma + 'Breast implant-associated anaplastic large cell lymphoma' SubClassOf 'disease' + 'Breast implant-associated anaplastic large cell lymphoma' SubClassOf 'disorder' + 'Breast implant-associated anaplastic large cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_662198 Label(s): Neurodevelopmental delay-intellectual disability-skeletal defects syndrome + 'Neurodevelopmental delay-intellectual disability-skeletal defects syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental delay-intellectual disability-skeletal defects syndrome' SubClassOf 'disorder' + 'Neurodevelopmental delay-intellectual disability-skeletal defects syndrome' SubClassOf 'malformation syndrome' + 'Neurodevelopmental delay-intellectual disability-skeletal defects syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_662194 Label(s): heterogeneous nuclear ribonucleoprotein C + 'heterogeneous nuclear ribonucleoprotein C' SubClassOf 'gene with protein product' + 'heterogeneous nuclear ribonucleoprotein C' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'heterogeneous nuclear ribonucleoprotein C' SubClassOf 'has_chromosomal location' value "14q11.2" Class: http://www.orpha.net/ORDO/Orphanet_662189 Label(s): Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome + 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' SubClassOf 'disorder' + 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' SubClassOf 'malformation syndrome' + 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_662184 Label(s): Congenital muscular dystrophy-cataract-intellectual disability syndrome + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'disorder' + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'part_of' some 'Congenital muscular dystrophy' + 'Congenital muscular dystrophy-cataract-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_662179 Label(s): Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662175 Label(s): Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome + 'Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_662172 Label(s): Phelan-McDermid syndrome due to SHANK3 mutation + 'Phelan-McDermid syndrome due to SHANK3 mutation' SubClassOf 'subtype of a disorder' + 'Phelan-McDermid syndrome due to SHANK3 mutation' SubClassOf 'part_of' some 'Phelan-McDermid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_662169 Label(s): Phelan-McDermid syndrome due to 22q13.3 deletion + 'Phelan-McDermid syndrome due to 22q13.3 deletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 22' + 'Phelan-McDermid syndrome due to 22q13.3 deletion' SubClassOf 'part_of' some 'Phelan-McDermid syndrome' + 'Phelan-McDermid syndrome due to 22q13.3 deletion' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_674499 Label(s): Proteoglycan-related bone disorder + 'Proteoglycan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' + 'Proteoglycan-related bone disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_664734 Label(s): EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature + 'EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature' SubClassOf 'group of disorders' + 'EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature' SubClassOf 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' Class: http://www.orpha.net/ORDO/Orphanet_664726 Label(s): EBV-induced lymphoproliferative disease due to CD137 deficiency + 'EBV-induced lymphoproliferative disease due to CD137 deficiency' SubClassOf 'disease' + 'EBV-induced lymphoproliferative disease due to CD137 deficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' + 'EBV-induced lymphoproliferative disease due to CD137 deficiency' SubClassOf 'disorder' + 'EBV-induced lymphoproliferative disease due to CD137 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency associated with EBV susceptibility' Class: http://www.orpha.net/ORDO/Orphanet_667589 Label(s): Isolated congenital femoral bifurcation + 'Isolated congenital femoral bifurcation' SubClassOf 'disorder' + 'Isolated congenital femoral bifurcation' SubClassOf 'Morphological anomaly' + 'Isolated congenital femoral bifurcation' SubClassOf 'part_of' some 'Non-syndromic intercalary limb defects' Class: http://www.orpha.net/ORDO/Orphanet_470826 Label(s): prolyl 4-hydroxylase, transmembrane + 'prolyl 4-hydroxylase, transmembrane' SubClassOf 'gene with protein product' + 'prolyl 4-hydroxylase, transmembrane' SubClassOf 'has_chromosomal location' value "3p21.31" + 'prolyl 4-hydroxylase, transmembrane' SubClassOf 'disease-causing germline mutation(s) in' some 'HIDEA syndrome' Class: http://www.orpha.net/ORDO/Orphanet_675597 Label(s): Acquired elastotic haemangioma + 'Acquired elastotic haemangioma' SubClassOf 'disorder' + 'Acquired elastotic haemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Acquired elastotic haemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_664912 Label(s): Neonatal renal venous thrombosis + 'Neonatal renal venous thrombosis' SubClassOf 'part_of' some 'Rare renal disease' + 'Neonatal renal venous thrombosis' SubClassOf 'disorder' + 'Neonatal renal venous thrombosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_662388 Label(s): Gallbladder duplication + 'Gallbladder duplication' SubClassOf 'Morphological anomaly' + 'Gallbladder duplication' SubClassOf 'part_of' some 'Rare biliary tract disease' + 'Gallbladder duplication' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' + 'Gallbladder duplication' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_470992 Label(s): RAR related orphan receptor A + 'RAR related orphan receptor A' SubClassOf 'gene with protein product' + 'RAR related orphan receptor A' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'RAR related orphan receptor A' SubClassOf 'has_chromosomal location' value "15q22.2" Class: http://www.orpha.net/ORDO/Orphanet_674648 Label(s): Syndrome with congenital phagocyte functional defect as a major feature + 'Syndrome with congenital phagocyte functional defect as a major feature' SubClassOf 'group of disorders' + 'Syndrome with congenital phagocyte functional defect as a major feature' SubClassOf 'Congenital functional phagocyte defect' Class: http://www.orpha.net/ORDO/Orphanet_664438 Label(s): Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'disorder' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Neurological channelopathy of the central nervous system due to a genetic potassium channel defect' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_664430 Label(s): Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome + 'Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome' SubClassOf 'disorder' + 'Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_664410 Label(s): Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' SubClassOf 'disorder' + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_138561 Label(s): methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'has_chromosomal location' value "14q23.3" + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'gene with protein product' + 'methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_674896 Label(s): Non-syndromic congenital phagocyte functional defect + 'Non-syndromic congenital phagocyte functional defect' SubClassOf 'group of disorders' + 'Non-syndromic congenital phagocyte functional defect' SubClassOf 'Congenital functional phagocyte defect' Class: http://www.orpha.net/ORDO/Orphanet_512501 Label(s): cytochrome c oxidase assembly factor COX16 + 'cytochrome c oxidase assembly factor COX16' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'cytochrome c oxidase assembly factor COX16' SubClassOf 'gene with protein product' + 'cytochrome c oxidase assembly factor COX16' SubClassOf 'has_chromosomal location' value "14q24.2" Class: http://www.orpha.net/ORDO/Orphanet_664377 Label(s): MGP-related spondyloepiphyseal dysplasia + 'MGP-related spondyloepiphyseal dysplasia' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'MGP-related spondyloepiphyseal dysplasia' SubClassOf 'disorder' + 'MGP-related spondyloepiphyseal dysplasia' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'MGP-related spondyloepiphyseal dysplasia' SubClassOf 'malformation syndrome' + 'MGP-related spondyloepiphyseal dysplasia' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_664372 Label(s): Soft and hard cleft palate + 'Soft and hard cleft palate' SubClassOf 'disorder' + 'Soft and hard cleft palate' SubClassOf 'Morphological anomaly' + 'Soft and hard cleft palate' SubClassOf 'part_of' some 'Cleft palate' Class: http://www.orpha.net/ORDO/Orphanet_664482 Label(s): Primary hemophagocytic lymphohistiocytosis without hypopigmentation + 'Primary hemophagocytic lymphohistiocytosis without hypopigmentation' SubClassOf 'group of disorders' + 'Primary hemophagocytic lymphohistiocytosis without hypopigmentation' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_675404 Label(s): May-Thurner syndrome + 'May-Thurner syndrome' SubClassOf 'disease' + 'May-Thurner syndrome' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' + 'May-Thurner syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_674924 Label(s): Isolated retinal racemose hemangioma + 'Isolated retinal racemose hemangioma' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Isolated retinal racemose hemangioma' SubClassOf 'disorder' + 'Isolated retinal racemose hemangioma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_662934 Label(s): Acute megakaryoblastic leukemia in adult + 'Acute megakaryoblastic leukemia in adult' SubClassOf 'subtype of a disorder' + 'Acute megakaryoblastic leukemia in adult' SubClassOf 'part_of' some 'Acute megakaryoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_662786 Label(s): Vasa previa + 'Vasa previa' SubClassOf 'disorder' + 'Vasa previa' SubClassOf 'disease' + 'Vasa previa' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_664500 Label(s): Hermansky-Pudlak syndrome due to AP3B1 deficiency + 'Hermansky-Pudlak syndrome due to AP3B1 deficiency' SubClassOf 'Hermansky-Pudlak syndrome due to AP-3 deficiency' + 'Hermansky-Pudlak syndrome due to AP3B1 deficiency' SubClassOf 'subtype of a disorder' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_121089 Label(s): DISC1 scaffold protein + 'DISC1 scaffold protein' SubClassOf 'candidate gene tested in' some 'Microcephaly-polymicrogyria-corpus callosum agenesis syndrome' + 'DISC1 scaffold protein' SubClassOf 'gene with protein product' + 'DISC1 scaffold protein' SubClassOf 'has_chromosomal location' value "1q42.2" Class: http://www.orpha.net/ORDO/Orphanet_457688 Label(s): EPH receptor A4 + 'EPH receptor A4' SubClassOf 'candidate gene tested in' some 'Amyotrophic lateral sclerosis' + 'EPH receptor A4' SubClassOf 'has_chromosomal location' value "2q36.1" + 'EPH receptor A4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_506368 Label(s): ARV1 homolog, fatty acid homeostasis modulator + 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'gene with protein product' + 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'has_chromosomal location' value "1q42.2" + 'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'candidate gene tested in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_514010 Label(s): MLX interacting protein like + 'MLX interacting protein like' SubClassOf 'gene with protein product' + 'MLX interacting protein like' SubClassOf 'has_chromosomal location' value "7q11.23" + 'MLX interacting protein like' SubClassOf 'candidate gene tested in' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123269 Label(s): mutL homolog 3 + 'mutL homolog 3' SubClassOf 'modifying germline mutation in' some 'Lynch syndrome' + 'mutL homolog 3' SubClassOf 'gene with protein product' + 'mutL homolog 3' SubClassOf 'has_chromosomal location' value "14q24.3" Class: http://www.orpha.net/ORDO/Orphanet_171038 Label(s): DDB1 and CUL4 associated factor 17 + 'DDB1 and CUL4 associated factor 17' SubClassOf 'gene with protein product' + 'DDB1 and CUL4 associated factor 17' SubClassOf 'has_chromosomal location' value "2q31.1" + 'DDB1 and CUL4 associated factor 17' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Woodhouse-Sakati syndrome' Class: http://www.orpha.net/ORDO/Orphanet_471078 Label(s): solute carrier family 27 member 5 + 'solute carrier family 27 member 5' SubClassOf 'gene with protein product' + 'solute carrier family 27 member 5' SubClassOf 'candidate gene tested in' some 'Bile acid CoA ligase deficiency and defective amidation' + 'solute carrier family 27 member 5' SubClassOf 'has_chromosomal location' value "19q13.43" Class: http://www.orpha.net/ORDO/Orphanet_353516 Label(s): DNA topoisomerase II alpha + 'DNA topoisomerase II alpha' SubClassOf 'biomarker tested in' some 'Neuroblastoma' + 'DNA topoisomerase II alpha' SubClassOf 'gene with protein product' + 'DNA topoisomerase II alpha' SubClassOf 'has_chromosomal location' value "17q21.2" Class: http://www.orpha.net/ORDO/Orphanet_377752 Label(s): 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 'has_chromosomal location' value "1p33" + 'ATP synthase mitochondrial F1 complex assembly factor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_599201 Label(s): BAF chromatin remodeling complex subunit BCL7B + 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'gene with protein product' + 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'has_chromosomal location' value "7q11.23" + 'BAF chromatin remodeling complex subunit BCL7B' SubClassOf 'candidate gene tested in' some 'Williams syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470228 Label(s): doublesex and mab-3 related transcription factor 3 + 'doublesex and mab-3 related transcription factor 3' SubClassOf 'candidate gene tested in' some '46,XY partial gonadal dysgenesis' + 'doublesex and mab-3 related transcription factor 3' SubClassOf 'has_chromosomal location' value "9p24.3" + 'doublesex and mab-3 related transcription factor 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_456990 Label(s): lipoyl(octanoyl) transferase 2 + 'lipoyl(octanoyl) transferase 2' SubClassOf 'gene with protein product' + 'lipoyl(octanoyl) transferase 2' SubClassOf 'candidate gene tested in' some 'Lipoyl transferase 2 deficiency' + 'lipoyl(octanoyl) transferase 2' SubClassOf 'has_chromosomal location' value "11q13.4" Class: http://www.orpha.net/ORDO/Orphanet_470170 Label(s): death domain associated protein + 'death domain associated protein' SubClassOf 'gene with protein product' + 'death domain associated protein' SubClassOf 'has_chromosomal location' value "6p21.32" + 'death domain associated protein' SubClassOf 'candidate gene tested in' some 'Neuroendocrine tumor of stomach' Class: http://www.orpha.net/ORDO/Orphanet_474489 Label(s): complement factor H related 4 + 'complement factor H related 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Atypical hemolytic uremic syndrome with anti-factor H antibodies' + 'complement factor H related 4' SubClassOf 'has_chromosomal location' value "1q31.3" + 'complement factor H related 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_159118 Label(s): zinc finger protein 41 + 'zinc finger protein 41' SubClassOf 'gene with protein product' + 'zinc finger protein 41' SubClassOf 'has_chromosomal location' value "Xp11.3" + 'zinc finger protein 41' SubClassOf 'candidate gene tested in' some 'X-linked non-syndromic intellectual disability'