961 43 44 http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'central nervous system malformation' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_309133 Metabolic disease due to other fatty acid oxidation disorder 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephalic primordial dwarfism' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'hereditary disorder of connective tissue' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_290839 Autoinflammatory syndrome with immune deficiency 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Autoinflammatory syndrome with immune deficiency' EquivalentTo 'autoinflammatory syndrome' and ('disease has feature' some 'primary immunodeficiency disease') 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'disease has feature' some 'primary immunodeficiency disease' 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'autoinflammatory syndrome' 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' SubClassOf 'has modifier' some 'congenital' 'familial thyroglossal duct cyst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019859 http://www.orpha.net/ORDO/Orphanet_179490 Obesity due to congenital leptin resistance 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic non-syndromic obesity' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Cardiac disease with cataract' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Cardiac disease with cataract' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' http://www.orpha.net/ORDO/Orphanet_1376 Congenital cataract - ichthyosis 'Congenital cataract - ichthyosis' SubClassOf 'Dentocutaneous disease with cataract' 'Congenital cataract - ichthyosis' SubClassOf 'Dentocutaneous disease with cataract' http://www.orpha.net/ORDO/Orphanet_1377 Cataract-microcornea syndrome 'Cataract-microcornea syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1305 Feingold syndrome 'Feingold syndrome' SubClassOf 'Syndrome with brachydactyly' 'Feingold syndrome' SubClassOf 'congenital limb malformation' 'Feingold syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_371157 Congenital disorder of glycosylation with hepatic involvement 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'has modifier' some 'rare' 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_1328 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1326 Camptodactyly syndrome, Guadalajara type 2 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'congenital limb malformation' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Dysostosis of genetic origin' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_371188 Congenital disorder of glycosylation with intestinal involvement 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_35858 Gräsbeck-Imerslund disease 'Gräsbeck-Imerslund disease' SubClassOf 'megaloblastic anemia' 'Gräsbeck-Imerslund disease' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Gräsbeck-Imerslund disease' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Gräsbeck-Imerslund disease' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidosis 'Chronic mucocutaneous candidosis' SubClassOf 'has modifier' some 'rare' 'Chronic mucocutaneous candidosis' SubClassOf 'genetic skin disease' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_371176 Congenital disorder of glycosylation with dilated cardiomyopathy 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_371200 Congenital disorder of glycosylation with skin involvement 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_108987 Syndromic developmental defect of the eye 'Syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Syndromic developmental defect of the eye' EquivalentTo 'Genetic developmental defect of the eye' and ('has modifier' some 'has a syndromic presentation') 'Syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Syndromic developmental defect of the eye' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_157946 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Huntington disease-like 3' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Huntington disease-like 3' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_157941 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like 1' SubClassOf 'Neurodegenerative disease with chorea' http://www.orpha.net/ORDO/Orphanet_35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_69028 Syndrome with brachydactyly 'Syndrome with brachydactyly' SubClassOf 'brachydactyly' 'Syndrome with brachydactyly' SubClassOf 'congenital limb malformation' 'Syndrome with brachydactyly' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_371235 Congenital disorder of glycosylation with developmental anomaly 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018549 http://www.ebi.ac.uk/efo/EFO_1000301 Inclusion Body Fibromatosis 'Inclusion Body Fibromatosis' SubClassOf 'fibromatosis' 'Inclusion Body Fibromatosis' SubClassOf 'fibromatosis' http://www.orpha.net/ORDO/Orphanet_1194 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_1195 Congenital atransferrinemia 'Congenital atransferrinemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Congenital atransferrinemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_69085 Limb-mammary syndrome 'Limb-mammary syndrome' SubClassOf 'congenital limb malformation' 'Limb-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1276 Brachydactyly - arterial hypertension 'Brachydactyly - arterial hypertension' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - arterial hypertension' SubClassOf 'congenital limb malformation' 'Brachydactyly - arterial hypertension' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1270 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Bowen-Conradi syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_1295 Brachytelephalangy - dysmorphism - Kallmann syndrome 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Syndrome with brachydactyly' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'congenital limb malformation' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1292 Brachymorphism - onychodysplasia - dysphalangism 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'congenital limb malformation' 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'Syndrome with brachydactyly' 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1256 Blepharophimosis - radioulnar synostosis 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'congenital limb malformation' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Proteasome disability syndrome' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Proteasome disability syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_35710 Glucose-galactose malabsorption 'Glucose-galactose malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_309324 Free sialic acid storage disease, infantile form 'Free sialic acid storage disease, infantile form' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'genetic skin disease' 'Combined immunodeficiency with skin granulomas' SubClassOf 'Genetic immune deficiency with skin involvement' 'Combined immunodeficiency with skin granulomas' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_157954 ANE syndrome 'ANE syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'ANE syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_104006 Congenital intestinal disease due to an enzymatic defect 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'has modifier' some 'rare' 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'has modifier' some 'congenital' 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_45358 Congenital fibrosis of extraocular muscles 'Congenital fibrosis of extraocular muscles' SubClassOf 'Syndrome with a symptomatic strabismus' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Myopathy with eye involvement' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_104013 Metabolic disease with intestinal involvement 'Metabolic disease with intestinal involvement' SubClassOf 'Inborn errors of metabolism' 'Metabolic disease with intestinal involvement' SubClassOf 'intestinal disease' 'Metabolic disease with intestinal involvement' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_324535 Combined oxidative phosphorylation defect type 11 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_263494 DPM3-CDG 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_263487 COG5-CDG 'COG5-CDG' SubClassOf 'congenital nervous system disorder' 'COG5-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.ebi.ac.uk/efo/EFO_0009054 Pulmonary arterial hypertension associated with congenital heart disease 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.orpha.net/ORDO/Orphanet_238455 Infantile dystonia-parkinsonism 'Infantile dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_238459 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'congenital nervous system disorder' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'proteostasis deficiencies' 'synucleinopathy' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_238468 Hypohidrotic ectodermal dysplasia 'Hypohidrotic ectodermal dysplasia' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_263440 Neuroacanthocytosis 'Neuroacanthocytosis' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neuroacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuroacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'central nervous system malformation' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_1566 Dandy-Walker malformation - postaxial polydactyly 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'central nervous system malformation' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_1532 Gómez-López-Hernández syndrome 'Gómez-López-Hernández syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gómez-López-Hernández syndrome' SubClassOf 'central nervous system malformation' 'Gómez-López-Hernández syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_1465 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'congenital limb malformation' 'Coffin-Siris syndrome' SubClassOf 'Syndrome with brachydactyly' 'Coffin-Siris syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_35909 Combined deficiency of factor V and factor VIII 'Combined deficiency of factor V and factor VIII' SubClassOf 'hemorrhagic disease' 'Combined deficiency of factor V and factor VIII' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.ebi.ac.uk/efo/EFO_1000062 lactose intolerance 'lactose intolerance' SubClassOf 'Metabolic disease with intestinal involvement' http://www.ebi.ac.uk/efo/EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_1422 Chondrodysplasia - disorder of sex development 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Chondrodysplasia - disorder of sex development' SubClassOf 'has modifier' some 'rare' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_371047 Congenital disorder of glycosylation with neurological involvement 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Neurometabolic disease' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'congenital nervous system disorder' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'genetic skin disease' 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'SRD5A3-CDG' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1429 Benign familial chorea 'Benign familial chorea' SubClassOf 'Neurodegenerative disease with chorea' http://www.orpha.net/ORDO/Orphanet_33364 Trichothiodystrophy 'Trichothiodystrophy' SubClassOf 'Autosomal ichthyosis syndrome' 'Trichothiodystrophy' SubClassOf 'male infertility' 'Trichothiodystrophy' SubClassOf 'Male infertility due to sperm disorder' 'Trichothiodystrophy' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Trichothiodystrophy' SubClassOf 'Male infertility due to sperm disorder' http://www.orpha.net/ORDO/Orphanet_1412 Tarsal-carpal coalition syndrome 'Tarsal-carpal coalition syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Tarsal-carpal coalition syndrome' SubClassOf 'congenital limb malformation' 'Tarsal-carpal coalition syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy 'Desminopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Desminopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'familial hemolytic anemia' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' http://www.ebi.ac.uk/efo/EFO_0009200 Eisenmenger syndrome 'Eisenmenger syndrome' SubClassOf 'Pulmonary arterial hypertension associated with congenital heart disease' 'Eisenmenger syndrome' SubClassOf 'Pulmonary arterial hypertension associated with congenital heart disease' http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some 'rare' 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0009194 Pulmonary arterial hypertension associated with HIV infection 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009196 Pulmonary arterial hypertension associated with connective tissue disease 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009197 Pulmonary arterial hypertension associated with portal hypertension 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009193 Pulmonary arterial hypertension associated with another disease 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'pulmonary arterial hypertension' 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'pulmonary arterial hypertension' http://www.ebi.ac.uk/efo/EFO_0009198 Pulmonary arterial hypertension associated with schistosomiasis 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease 'late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy-optic atrophy syndrome 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'Mitochondrial disease' 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'skin disease' 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'disease arises from feature' some 'Genetic neurodegenerative disease' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017641 and ('disease arises from feature' some 'Genetic neurodegenerative disease') 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 http://www.orpha.net/ORDO/Orphanet_98868 Southeast Asian ovalocytosis 'Southeast Asian ovalocytosis' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_98896 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'Myopathy with eye involvement' 'Duchenne muscular dystrophy' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'Syndrome with a symptomatic strabismus' 'Trisomy 13' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_3383 Humerus trochlea aplasia 'Humerus trochlea aplasia' SubClassOf 'congenital limb malformation' 'Humerus trochlea aplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Humerus trochlea aplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Genetic developmental defect of the eye' 'stromme syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Waardenburg syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_263516 Progressive myoclonic epilepsy type 3 'Progressive myoclonic epilepsy type 3' SubClassOf 'congenital nervous system disorder' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'congenital nervous system disorder' 'MOGS-CDG' SubClassOf 'Neurometabolic disease' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_263508 COG1-CDG 'COG1-CDG' SubClassOf 'congenital nervous system disorder' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_3474 CHIME syndrome 'CHIME syndrome' SubClassOf 'congenital nervous system disorder' 'CHIME syndrome' SubClassOf 'Genetic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://www.orpha.net/ORDO/Orphanet_3473 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zimmermann-Laband syndrome' SubClassOf 'genetic disorder' 'Zimmermann-Laband syndrome' SubClassOf 'has modifier' some 'rare' 'Zimmermann-Laband syndrome' SubClassOf 'congenital nervous system disorder' 'Zimmermann-Laband syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zimmermann-Laband syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3471 Young syndrome 'Young syndrome' SubClassOf 'has modifier' some 'rare' 'Young syndrome' SubClassOf 'male infertility' 'Young syndrome' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.orpha.net/ORDO/Orphanet_263501 COG4-CDG 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'COG4-CDG' SubClassOf 'congenital nervous system disorder' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XXXY syndrome' SubClassOf 'male infertility' '48,XXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '49,XXXXY syndrome' SubClassOf 'male infertility' '49,XXXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'congenital limb malformation' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Syndrome with brachydactyly' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Rare genetic neurological disorder' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_251510 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'female infertility' '46,XY partial gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'male infertility' '46,XY partial gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_202948 Syndromic microphthalmia 'Syndromic microphthalmia' SubClassOf 'syndromic disease' 'Syndromic microphthalmia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_397941 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'congenital nervous system disorder' 'MAN1B1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'developmental defect during embryogenesis' 'Hereditary neurocutaneous angioma' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary neurocutaneous angioma' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1069 Aniridia - absent patella 'Aniridia - absent patella' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'congenital limb malformation' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_275872 Frontotemporal dementia with motor neuron disease 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'Rare genetic neurological disorder' 'NDE1-related microhydranencephaly' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_275864 Behavioral variant of frontotemporal dementia 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Behavioral variant of frontotemporal dementia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.orpha.net/ORDO/Orphanet_1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_1112 Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'congenital limb malformation' 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Genetic syndrome with limb reduction defects' 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1113 Aphalangy - syndactyly - microcephaly 'Aphalangy - syndactyly - microcephaly' SubClassOf 'congenital limb malformation' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 http://www.orpha.net/ORDO/Orphanet_35656 Coenzyme Q10 deficiency 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_1027 Autosomal recessive amelia 'Autosomal recessive amelia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Autosomal recessive amelia' SubClassOf 'congenital limb malformation' 'Autosomal recessive amelia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1001 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'Syndrome with brachydactyly' '2q37 microdeletion syndrome' SubClassOf 'syndromic disease' '2q37 microdeletion syndrome' SubClassOf 'congenital limb malformation' '2q37 microdeletion syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1003 Scalp defects - postaxial polydactyly 'Scalp defects - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Scalp defects - postaxial polydactyly' SubClassOf 'congenital limb malformation' 'Scalp defects - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_238744 Mammary-digital-nail syndrome 'Mammary-digital-nail syndrome' SubClassOf 'congenital limb malformation' 'Mammary-digital-nail syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Mammary-digital-nail syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_280663 Hermansky-Pudlak syndrome type 9 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' http://www.orpha.net/ORDO/Orphanet_79387 Metabolic disease with skin involvement 'Metabolic disease with skin involvement' SubClassOf 'metabolic disease' 'Metabolic disease with skin involvement' SubClassOf 'genetic skin disease' 'Metabolic disease with skin involvement' SubClassOf 'Inborn errors of metabolism' 'Metabolic disease with skin involvement' SubClassOf 'skin disease' 'Metabolic disease with skin involvement' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'congenital nervous system disorder' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/HP_0002605 Hepatic necrosis 'Hepatic necrosis' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/MONDO_0018750 obsolete class I glucose-6-phosphate dehydrogenase deficiency 'obsolete class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing 'obsolete class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf 'Disorder of glycolysis' 'obsolete class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010480 'obsolete class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_79 Congenital alpha2 antiplasmin deficiency 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'hemorrhagic disease' 'Congenital alpha2 antiplasmin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_71 Chylomicron retention disease 'Chylomicron retention disease' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fanconi anemia' SubClassOf 'Hematological disorder with renal involvement' 'Fanconi anemia' SubClassOf 'kidney disease' 'Fanconi anemia' SubClassOf 'congenital limb malformation' 'Fanconi anemia' SubClassOf 'Hematological disorder with renal involvement' 'Fanconi anemia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_314585 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'Overgrowth syndrome' '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_56 Alkaptonuria 'Alkaptonuria' SubClassOf 'Metabolic disease with skin involvement' 'Alkaptonuria' SubClassOf 'genetic skin disease' 'Alkaptonuria' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_57 Glycogen storage disease due to aldolase A deficiency 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy 'obsolete acute and subacute inflammatory demyelinating polyneuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing 'obsolete acute and subacute inflammatory demyelinating polyneuropathy' SubClassOf 'acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with cataract' 'Alpha-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Alpha-mannosidosis' SubClassOf 'Cataract associated with a metabolic disease' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with cataract' 'Alpha-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Alpha-mannosidosis' SubClassOf 'Cataract associated with a metabolic disease' http://www.orpha.net/ORDO/Orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'Renal disease with cataract' 'Alport syndrome' SubClassOf 'Renal disease with cataract' http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'genetic skin disease' 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with skin involvement' 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with intestinal involvement' 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_31 Oxoglutaricaciduria 'Oxoglutaricaciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'Oxoglutaricaciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Oxoglutaricaciduria' SubClassOf 'metabolic epilepsy' 'Oxoglutaricaciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens 'Congenital bilateral absence of vas deferens' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' 'Congenital bilateral absence of vas deferens' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Metabolic disease with dementia' 'X-linked adrenoleukodystrophy' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'Abetalipoproteinemia' SubClassOf 'familial hemolytic anemia' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with intestinal involvement' 'Abetalipoproteinemia' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' http://www.orpha.net/ORDO/Orphanet_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Fumaric aciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'Fumaric aciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_28 Vitamin B12-responsive methylmalonic acidemia 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_29 Mevalonic aciduria 'Mevalonic aciduria' SubClassOf 'Metabolic disease with cataract' 'Mevalonic aciduria' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_363528 Intellectual disability-strabismus syndrome 'Intellectual disability-strabismus syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Intellectual disability-strabismus syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_79444 Pseudohypoparathyroidism type 1C 'Pseudohypoparathyroidism type 1C' SubClassOf 'Musculoskeletal disease with cataract' http://www.orpha.net/ORDO/Orphanet_79445 Pseudopseudohypoparathyroidism 'Pseudopseudohypoparathyroidism' SubClassOf 'Musculoskeletal disease with cataract' http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' SubClassOf 'interstitial lung disease specific to adulthood' 'pulmonary sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017028 http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_182083 Channelopathy with epilepsy 'Channelopathy with epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Channelopathy with epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Channelopathy with epilepsy' SubClassOf 'channelopathy' http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis 'Alymphoid cystic thymic dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_182076 Syndromic neurometabolic disease with X-linked intellectual disability 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'Neurometabolic disease' 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic neurometabolic disease with X-linked intellectual disability' EquivalentTo 'Neurometabolic disease' and 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_182073 Syndromic neurometabolic disease with non-X-linked intellectual disability 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'Neurometabolic disease' 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'syndromic intellectual disability' 'Syndromic neurometabolic disease with non-X-linked intellectual disability' DisjointWith 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'corticobasal syndrome' SubClassOf 'movement disorder' 'corticobasal syndrome' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'corticobasal syndrome' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.orpha.net/ORDO/Orphanet_314667 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'congenital nervous system disorder' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Aspartylglucosaminuria' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_231500 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'interstitial lung disease specific to childhood' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_363654 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_79333 COG7-CDG 'COG7-CDG' SubClassOf 'congenital nervous system disorder' 'COG7-CDG' SubClassOf 'genetic skin disease' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://www.orpha.net/ORDO/Orphanet_79332 B4GALT1-CDG 'B4GALT1-CDG' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'B4GALT1-CDG' SubClassOf 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'congenital nervous system disorder' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'B4GALT1-CDG' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_79319 MPI-CDG 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_79327 ALG1-CDG 'ALG1-CDG' SubClassOf 'congenital nervous system disorder' 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79326 ALG2-CDG 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG2-CDG' SubClassOf 'congenital nervous system disorder' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79329 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'congenital nervous system disorder' 'MGAT2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'MGAT2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79328 ALG9-CDG 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG9-CDG' SubClassOf 'congenital nervous system disorder' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79323 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'congenital nervous system disorder' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'MPDU1-CDG' SubClassOf 'genetic skin disease' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'congenital nervous system disorder' 'DPM1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79325 ALG8-CDG 'ALG8-CDG' SubClassOf 'congenital nervous system disorder' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_79324 ALG12-CDG 'ALG12-CDG' SubClassOf 'congenital nervous system disorder' 'ALG12-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG12-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79321 ALG3-CDG 'ALG3-CDG' SubClassOf 'congenital nervous system disorder' 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79318 PMM2-CDG 'PMM2-CDG' SubClassOf 'congenital nervous system disorder' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'PMM2-CDG' SubClassOf 'genetic skin disease' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://purl.obolibrary.org/obo/HP_0012234 Agranulocytosis 'Agranulocytosis' SubClassOf 'Granulocytopenia' 'Agranulocytosis' SubClassOf 'Abnormal leukocyte morphology' http://www.orpha.net/ORDO/Orphanet_169464 Primary CD59 deficiency 'Primary CD59 deficiency' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Primary CD59 deficiency' SubClassOf 'familial hemolytic anemia' 'Primary CD59 deficiency' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_79665 Gardner syndrome 'Gardner syndrome' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' http://www.orpha.net/ORDO/Orphanet_79477 Griscelli disease type 2 'Griscelli disease type 2' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Griscelli disease type 2' SubClassOf 'Genetic immune deficiency with skin involvement' 'Griscelli disease type 2' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Griscelli disease type 2' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_228169 Autosomal dominant striatal neurodegeneration 'Autosomal dominant striatal neurodegeneration' SubClassOf 'parkinsonian disorder' 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_169361 Immune dysregulation disease with immunodeficiency 'Immune dysregulation disease with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immune dysregulation disease with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.orpha.net/ORDO/Orphanet_169355 Immunodeficiency syndrome with autoimmunity 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_1000965 Henoch-Schoenlein purpura 'Henoch-Schoenlein purpura' SubClassOf 'hypersensitivity reaction disease' 'Henoch-Schoenlein purpura' SubClassOf 'hypersensitivity vasculitis' http://www.orpha.net/ORDO/Orphanet_363417 Temtamy preaxial brachydactyly syndrome 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital limb malformation' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndrome with brachydactyly' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndrome with brachydactyly' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Leukodystrophy' 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_289499 Congenital cataract microcornea with corneal opacity 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'metabolic epilepsy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_300305 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'Overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with C1Inh deficiency 'hereditary angioedema with C1Inh deficiency' EquivalentTo 'Hereditary angioedema' and ('disease has feature' some http://purl.obolibrary.org/obo/MONDO_0027751) 'hereditary angioedema with C1Inh deficiency' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0027751 http://www.ebi.ac.uk/efo/EFO_1000660 acanthosis nigricans 'acanthosis nigricans' SubClassOf 'pigmentation disease' 'acanthosis nigricans' SubClassOf 'Genetic pigmentation anomaly of the skin' http://purl.obolibrary.org/obo/MONDO_0018335 obsolete deep dermatophytosis 'obsolete deep dermatophytosis' SubClassOf http://www.w3.org/2002/07/owl#Thing 'obsolete deep dermatophytosis' SubClassOf 'fungal infectious disease' 'obsolete deep dermatophytosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_1742 Trisomy 5p 'Trisomy 5p' SubClassOf 'Overgrowth syndrome' 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_399998 Male infertility due to obstructive azoospermia of genetic origin 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020091 http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'male infertility' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_289377 Early-onset myopathy with fatal cardiomyopathy 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'neuromuscular disease' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.ebi.ac.uk/efo/EFO_1000750 perinatal jaundice due to hepatocellular damage 'perinatal jaundice due to hepatocellular damage' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_1670 Chronic diarrhea with villous atrophy 'Chronic diarrhea with villous atrophy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Chronic diarrhea with villous atrophy' SubClassOf 'Metabolic disease with intestinal involvement' 'Chronic diarrhea with villous atrophy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_300536 DDOST-CDG 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'DDOST-CDG' SubClassOf 'congenital nervous system disorder' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_1617 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf 'Male infertility with spermatogenesis disorder' 'Partial chromosome Y deletion' SubClassOf 'male infertility' 'Partial chromosome Y deletion' SubClassOf 'Male infertility with spermatogenesis disorder' http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Distal monosomy 9p' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_1940 Shoulder and thorax deformity - congenital heart disease 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'congenital limb malformation' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Genetic syndrome with limb reduction defects' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_79145 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'has modifier' some 'rare' 'Dowling-Degos disease' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Dowling-Degos disease' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://www.orpha.net/ORDO/Orphanet_79124 Hepatic veno-occlusive disease - immunodeficiency 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_1972 Lethal faciocardiomelic dysplasia 'Lethal faciocardiomelic dysplasia' SubClassOf 'congenital limb malformation' 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'central nervous system malformation' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'hemorrhagic disease' 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_1988 Femoral-facial syndrome 'Femoral-facial syndrome' SubClassOf 'congenital limb malformation' 'Femoral-facial syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Femoral-facial syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1986 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'Genetic syndrome with limb reduction defects' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' 'Gollop-Wolfgang complex' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_399775 Male infertility with spermatogenesis disorder 'Male infertility with spermatogenesis disorder' SubClassOf 'Male infertility due to sperm disorder' 'Male infertility with spermatogenesis disorder' SubClassOf 'disorder of development or morphogenesis' 'Male infertility with spermatogenesis disorder' SubClassOf 'Male infertility due to sperm disorder' http://www.orpha.net/ORDO/Orphanet_399771 Male infertility due to sperm disorder 'Male infertility due to sperm disorder' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' 'Male infertility due to sperm disorder' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' http://www.orpha.net/ORDO/Orphanet_399786 Male infertility with spermatogenesis disorder due to single gene mutation 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder' 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder' http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' http://www.orpha.net/ORDO/Orphanet_399764 Male infertility due to gonadal dysgenesis or sperm disorder 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'male infertility' 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_67036 Autosomal dominant optic atrophy and cataract 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_67041 Hyaluronidase deficiency 'Hyaluronidase deficiency' SubClassOf 'has modifier' some 'rare' 'Hyaluronidase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Hyaluronidase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_1839 Hereditary mucoepithelial dysplasia 'Hereditary mucoepithelial dysplasia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_399813 Male infertility due to sperm motility disorder 'Male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm disorder' 'Male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm disorder' http://www.orpha.net/ORDO/Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_1804 Dyssegmental dysplasia - glaucoma 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Dysostosis of genetic origin' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'congenital limb malformation' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' SubClassOf 'genetic skin disease' 'familial acanthosis nigricans' SubClassOf 'Genetic pigmentation anomaly of the skin' 'familial acanthosis nigricans' SubClassOf 'dermatitis' http://www.orpha.net/ORDO/Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'disease has feature' some 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1858 Skeletal dysplasia - epilepsy - short stature 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'Syndrome with brachydactyly' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'congenital limb malformation' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_399877 Female infertility due to gonadal dysgenesis 'Female infertility due to gonadal dysgenesis' SubClassOf 'female infertility' 'Female infertility due to gonadal dysgenesis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1891 Intellectual disability - spasticity - ectrodactyly 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Dysostosis of genetic origin' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'congenital limb malformation' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1897 EEM syndrome 'EEM syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEM syndrome' SubClassOf 'congenital limb malformation' 'EEM syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'congenital limb malformation' 'EEC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.ebi.ac.uk/efo/EFO_0020897 citrus intake measurement 'citrus intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020898 skeletal age 'skeletal age' SubClassOf 'radiologic finding' http://www.ebi.ac.uk/efo/EFO_0020899 filaggrin gene expression measurement 'filaggrin gene expression measurement' SubClassOf 'gene expression measurement' http://purl.obolibrary.org/obo/MONDO_0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Dysostosis of genetic origin' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'congenital limb malformation' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_163937 X-linked intellectual disability, Najm type 'X-linked intellectual disability, Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability, Najm type' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability, Najm type' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability, Najm type' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_53697 Gnathodiaphyseal dysplasia 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0007832 single cell sequencing 'single cell sequencing' EquivalentTo 'assay by sequencer' and ('has_input' some 'single cell specimen') 'single cell sequencing' SubClassOf 'assay by sequencer' 'single cell sequencing' SubClassOf 'has_input' some 'single cell specimen' 'single cell sequencing' SubClassOf 'transcription profiling by high throughput sequencing' 'single cell sequencing' EquivalentTo 'transcription profiling by high throughput sequencing' and ('has_input' some 'single cell specimen') http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity disease 'type IV hypersensitivity disease' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_207028 Cerebellar ataxia with peripheral neuropathy 'Cerebellar ataxia with peripheral neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.ebi.ac.uk/EFO/EFO_0020908 low density lipoprotein particle size change measurement 'low density lipoprotein particle size change measurement' SubClassOf 'low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020905 free cholesterol change measurement 'free cholesterol change measurement' SubClassOf 'free cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020904 esterified cholesterol change measurement 'esterified cholesterol change measurement' SubClassOf 'esterified cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020907 very low density lipoprotein particle size change measurement 'very low density lipoprotein particle size change measurement' SubClassOf 'very low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020906 intermediate density lipoprotein change measurement 'intermediate density lipoprotein change measurement' SubClassOf 'intermediate density lipoprotein measurement' http://www.ebi.ac.uk/EFO/EFO_0020901 chylomicron change measurement 'chylomicron change measurement' SubClassOf 'chylomicron measurement' http://www.ebi.ac.uk/EFO/EFO_0020903 phospholipid change measurement 'phospholipid change measurement' SubClassOf 'phospholipid measurement' http://www.orpha.net/ORDO/Orphanet_244310 RFT1-CDG 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'RFT1-CDG' SubClassOf 'congenital nervous system disorder' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_209981 IRIDA syndrome 'IRIDA syndrome' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'IRIDA syndrome' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://www.orpha.net/ORDO/Orphanet_391320 East Texas bleeding disorder 'East Texas bleeding disorder' SubClassOf 'hemorrhagic disease' 'East Texas bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_51208 Formiminoglutamic aciduria 'Formiminoglutamic aciduria' SubClassOf 'megaloblastic anemia' 'Formiminoglutamic aciduria' SubClassOf 'vitamin metabolic disorder' 'Formiminoglutamic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Formiminoglutamic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_391351 SURF1-related Charcot-Marie-Tooth disease type 4 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_317473 Pancytopenia due to IKZF1 mutations 'Pancytopenia due to IKZF1 mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_209905 Brain-lung-thyroid syndrome 'Brain-lung-thyroid syndrome' SubClassOf 'Neurodegenerative disease with chorea' 'Brain-lung-thyroid syndrome' SubClassOf 'Neurodegenerative disease with chorea' http://www.orpha.net/ORDO/Orphanet_391417 HSD10 disease 'HSD10 disease' SubClassOf 'X-linked syndromic intellectual disability' 'HSD10 disease' SubClassOf 'Neurometabolic disease' 'HSD10 disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_391411 Atypical juvenile parkinsonism 'Atypical juvenile parkinsonism' SubClassOf 'parkinsonian disorder' 'Atypical juvenile parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_281238 Autosomal ichthyosis syndrome with prominent neurologics signs 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Autosomal ichthyosis syndrome' http://www.orpha.net/ORDO/Orphanet_281241 Autosomal ichthyosis syndrome with fatal disease course 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Autosomal ichthyosis syndrome' http://www.orpha.net/ORDO/Orphanet_281222 Autosomal ichthyosis syndrome with prominent hair abnormalities 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0016641 limb transversal defect-cardiac anomaly syndrome 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'congenital limb malformation' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_53719 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'genetic skin disease' 'Wyburn-Mason syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'Wyburn-Mason syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia - epilepsy 'Hyperekplexia - epilepsy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.ebi.ac.uk/efo/EFO_0020919 subacute myelo-opticoneuropathy 'subacute myelo-opticoneuropathy' SubClassOf 'nervous system disease' 'subacute myelo-opticoneuropathy' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0020915 uterine hyperstimulation 'uterine hyperstimulation' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_0020916 performance enhancing product use 'performance enhancing product use' SubClassOf 'drug misuse' http://www.ebi.ac.uk/efo/EFO_0020917 oculomucocutaneous syndrome 'oculomucocutaneous syndrome' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0020918 non-allergic anaphylaxis 'non-allergic anaphylaxis' SubClassOf 'anaphylaxis' 'non-allergic anaphylaxis' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0020911 overdose 'overdose' SubClassOf 'drug misuse' http://www.ebi.ac.uk/efo/EFO_0020912 decreased kidney function 'decreased kidney function' SubClassOf 'Abnormality of the kidney' http://www.orpha.net/ORDO/Orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 http://www.ebi.ac.uk/efo/EFO_0020913 electrocardiogram repolarisation abnormality 'electrocardiogram repolarisation abnormality' SubClassOf 'Abnormal EKG' http://www.ebi.ac.uk/efo/EFO_0020914 disorientation 'disorientation' SubClassOf 'psychiatric disorder' http://www.ebi.ac.uk/efo/EFO_0020910 thermal burn 'thermal burn' SubClassOf 'burn' http://www.ebi.ac.uk/efo/EFO_0020909 impaired psychomotor skills 'impaired psychomotor skills' SubClassOf 'Poor motor coordination' http://www.ebi.ac.uk/efo/EFO_0020902 bombay phenotype 'bombay phenotype' SubClassOf 'blood group' http://www.ebi.ac.uk/efo/EFO_0020930 immune-mediated adverse reaction 'immune-mediated adverse reaction' SubClassOf 'adverse effect' http://www.ebi.ac.uk/efo/EFO_0020926 noninfective encephalitis 'noninfective encephalitis' SubClassOf 'encephalitis' 'noninfective encephalitis' SubClassOf 'infectious encephalitis' http://www.ebi.ac.uk/efo/EFO_0020927 skin reaction 'skin reaction' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0020928 occular toxicity 'occular toxicity' SubClassOf 'eye disease' 'occular toxicity' SubClassOf 'toxicity' http://www.ebi.ac.uk/efo/EFO_0020929 electrocardiogram PR prolongation 'electrocardiogram PR prolongation' SubClassOf 'PR interval' 'electrocardiogram PR prolongation' SubClassOf 'PR segment' http://www.ebi.ac.uk/efo/EFO_0020922 hospitalisation 'hospitalisation' SubClassOf 'treatment' http://www.ebi.ac.uk/efo/EFO_0020923 accidental overdose 'accidental overdose' SubClassOf 'overdose' http://www.ebi.ac.uk/efo/EFO_0020924 intentional overdose 'intentional overdose' SubClassOf 'overdose' http://www.ebi.ac.uk/efo/EFO_0020925 angina unstable 'angina unstable' SubClassOf 'Abnormality of the cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0020920 hepatic lesion 'hepatic lesion' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0020921 hemorrhagic stroke 'hemorrhagic stroke' SubClassOf 'stroke' http://purl.obolibrary.org/obo/MONDO_0016707 astroblastoma 'astroblastoma' SubClassOf 'glioma' 'astroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016704 http://www.orpha.net/ORDO/Orphanet_90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' http://www.orpha.net/ORDO/Orphanet_90787 46,XY disorder of sex development due to testicular steroidogenesis defect '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' http://www.orpha.net/ORDO/Orphanet_90783 46,XY disorder of sex development due to testosterone synthesis defect '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'steroid metabolism disease' '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria 'homocystinuria' DisjointWith 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_99135 6-phosphogluconate dehydrogenase deficiency '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0004582 rheumatic myocarditis 'rheumatic myocarditis' SubClassOf 'myocarditis' 'rheumatic myocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022519 http://www.orpha.net/ORDO/Orphanet_401901 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Neurodegenerative disease with chorea' http://www.ebi.ac.uk/efo/EFO_0003030 abscess 'abscess' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type 3' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'central nervous system malformation' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_65285 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Lhermitte-Duclos disease' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_65284 Biotin-responsive basal ganglia disease 'Biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' http://www.orpha.net/ORDO/Orphanet_77259 Gaucher disease type 1 'Gaucher disease type 1' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_220493 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with ocular defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'Syndrome with a symptomatic strabismus' 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with ocular defect' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_90045 Hereditary folate malabsorption 'Hereditary folate malabsorption' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Hereditary folate malabsorption' SubClassOf 'megaloblastic anemia' 'Hereditary folate malabsorption' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Hereditary folate malabsorption' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Hereditary folate malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_90044 Familial pseudohyperkalemia 'Familial pseudohyperkalemia' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_293355 Methylmalonic acidemia without homocystinuria 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia without homocystinuria' SubClassOf 'methylmalonic acidemia' 'homocystinuria' DisjointWith 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_364536 Primary bone dysplasia with micromelia 'Primary bone dysplasia with micromelia' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with micromelia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_364574 Acrofacial dysostosis 'Acrofacial dysostosis' SubClassOf 'Syndrome with brachydactyly' 'Acrofacial dysostosis' SubClassOf 'congenital limb malformation' 'Acrofacial dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Acrofacial dysostosis' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital limb malformation' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome with brachydactyly' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/HP_0032156 Skin detachment 'Skin detachment' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'familial schizencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.orpha.net/ORDO/Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Majeed syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Majeed syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_77292 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Niemann-Pick disease type A' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_77293 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'interstitial lung disease specific to childhood' 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://purl.obolibrary.org/obo/HP_0007185 Loss of consciousness 'Loss of consciousness' SubClassOf 'Reduced consciousness/confusion' http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' SubClassOf 'immune system disease' 'type II hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' 'type II hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'Metabolic disease with corneal opacity' 'Tyrosinemia type 2' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_53351 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_401768 Proximal myopathy with extrapyramidal signs 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'glomerulonephritis' 'lupus nephritis' SubClassOf 'hypersensitivity reaction disease' 'lupus nephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030700 http://www.ebi.ac.uk/efo/EFO_0005785 blastoma 'blastoma' SubClassOf 'embryonal neoplasm' 'blastoma' SubClassOf 'embryonal neoplasm' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Blau syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Blau syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_352328 MEGDEL syndrome 'MEGDEL syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'MEGDEL syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'MEGDEL syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'MEGDEL syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.orpha.net/ORDO/Orphanet_3097 Meacham syndrome 'Meacham syndrome' SubClassOf 'has modifier' some 'rare' 'Meacham syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Meacham syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'congenital nervous system disorder' 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_3005 Pyle disease 'Pyle disease' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'central nervous system malformation' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'Metabolic disease with cataract' 'sialidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'sialidosis type II' SubClassOf 'Metabolic disease with cataract' 'sialidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_3016 Radius absent - anogenital anomalies 'Radius absent - anogenital anomalies' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radius absent - anogenital anomalies' SubClassOf 'congenital limb malformation' 'Radius absent - anogenital anomalies' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://www.orpha.net/ORDO/Orphanet_3015 Radio-renal syndrome 'Radio-renal syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radio-renal syndrome' SubClassOf 'congenital limb malformation' 'Radio-renal syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_3021 RAPADILINO syndrome 'RAPADILINO syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'RAPADILINO syndrome' SubClassOf 'congenital limb malformation' 'RAPADILINO syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_85202 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital limb malformation' 'Keutel syndrome' SubClassOf 'Syndrome with brachydactyly' 'Keutel syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_99810 Familial porencephaly 'Familial porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Familial porencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://www.orpha.net/ORDO/Orphanet_3032 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'immunodeficiency 27A' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'has modifier' some 'rare' 'ocular cystinosis' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_99718 Leber plus disease 'Leber plus disease' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber plus disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber plus disease' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber plus disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_99742 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Amish lethal microcephaly' SubClassOf 'disorder of development or morphogenesis' 'Amish lethal microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020636 http://www.orpha.net/ORDO/Orphanet_319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020637 http://www.orpha.net/ORDO/Orphanet_319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020637 http://www.orpha.net/ORDO/Orphanet_319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_319519 Combined oxidative phosphorylation defect type 14 'Combined oxidative phosphorylation defect type 14' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 14' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_319514 Combined oxidative phosphorylation defect type 13 'Combined oxidative phosphorylation defect type 13' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 13' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_319524 Combined oxidative phosphorylation defect type 15 'Combined oxidative phosphorylation defect type 15' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 15' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_319509 Combined oxidative phosphorylation defect type 9 'Combined oxidative phosphorylation defect type 9' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 9' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_319504 Combined oxidative phosphorylation defect type 8 'Combined oxidative phosphorylation defect type 8' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 8' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_85169 Familial digital arthropathy-brachydactyly 'Familial digital arthropathy-brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Familial digital arthropathy-brachydactyly' SubClassOf 'congenital limb malformation' 'Familial digital arthropathy-brachydactyly' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/HP_0032310 Granulocytosis 'Granulocytosis' SubClassOf 'Abnormal leukocyte morphology' http://www.orpha.net/ORDO/Orphanet_248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_85192 Calvarial doughnut lesions - bone fragility 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://www.orpha.net/ORDO/Orphanet_319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://www.orpha.net/ORDO/Orphanet_319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' SubClassOf 'infectious embryofetopathy' 'congenital rubella' EquivalentTo 'rubella' and ('has modifier' some 'congenital') 'congenital rubella' SubClassOf 'rubella' 'congenital rubella' SubClassOf 'has modifier' some 'congenital' 'congenital rubella' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'hereditary disorder of connective tissue' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebral disease with cataract' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebral disease with cataract' http://www.orpha.net/ORDO/Orphanet_3246 Symphalangism with multiple anomalies of hands and feet 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'congenital limb malformation' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3250 Proximal symphalangism 'Proximal symphalangism' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Proximal symphalangism' SubClassOf 'congenital limb malformation' 'Proximal symphalangism' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_85442 Short stature - pituitary and cerebellar defects - small sella turcica 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital limb malformation' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_3322 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'congenital limb malformation' 'Thrombocytopenia - absent radius' SubClassOf 'Genetic syndrome with limb reduction defects' 'Thrombocytopenia - absent radius' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'congenital limb malformation' 'Tibial aplasia - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tibial aplasia - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'congenital limb malformation' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'parkinsonian disorder' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Arterial tortuosity syndrome' SubClassOf 'vascular disease' 'Arterial tortuosity syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_3301 Tetraamelia - multiple malformations 'Tetraamelia - multiple malformations' SubClassOf 'congenital limb malformation' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'congenital limb malformation' 'Al-Gazali syndrome' SubClassOf 'Dysostosis of genetic origin' 'Al-Gazali syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' http://www.ebi.ac.uk/efo/EFO_0007180 bovine respiratory disease complex 'bovine respiratory disease complex' SubClassOf 'cattle disease' http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_3138 Ulnar-mammary syndrome 'Ulnar-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulnar-mammary syndrome' SubClassOf 'congenital limb malformation' 'Ulnar-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_3151 Multiple sclerosis - ichthyosis - factor VIII deficiency 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'hemorrhagic disease' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Palpebral tumor with a vascular malformation' http://www.orpha.net/ORDO/Orphanet_3237 Multiple synostoses syndrome 'Multiple synostoses syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Multiple synostoses syndrome' SubClassOf 'congenital limb malformation' 'Multiple synostoses syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_320375 Autosomal recessive spastic paraplegia type 55 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Cobblestone lissencephaly' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Neurometabolic disease' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Developmental anomaly of metabolic origin' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia' 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/HP_0030157 Flank pain 'Flank pain' SubClassOf 'Constitutional symptom' http://www.orpha.net/ORDO/Orphanet_356961 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'SLC35A2-CDG' SubClassOf 'congenital nervous system disorder' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XYYY syndrome' SubClassOf 'male infertility' '48,XYYY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018718 http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital limb malformation' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_329308 Fatty acid hydroxylase-associated neurodegeneration 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'disorder of development or morphogenesis' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Rare genetic neurological disorder' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Neurometabolic disease' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'congenital nervous system disorder' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf 'Rare genetic neurological disorder' 'SLC39A8-CDG' SubClassOf 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'Genetic pigmentation anomaly of the skin' 'reticulate pigment disorder' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_75391 Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_199348 Thiamine-responsive encephalopathy 'Thiamine-responsive encephalopathy' SubClassOf 'toxic encephalopathy' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_210571 Dystonia 16 'Dystonia 16' SubClassOf 'parkinsonian disorder' 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.ebi.ac.uk/efo/EFO_0030009 CITE-seq (sample multiplexing) 'CITE-seq (sample multiplexing)' SubClassOf 'cell hashing' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.ebi.ac.uk/efo/EFO_0030077 cell hashing 'cell hashing' SubClassOf 'single cell library construction' http://www.orpha.net/ORDO/Orphanet_163631 Bile acid synthesis defect with cholestasis and malabsorption 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Familial intrahepatic cholestasis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Disorder of bile acid synthesis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Familial intrahepatic cholestasis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_100070 Progressive non-fluent aphasia 'Progressive non-fluent aphasia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.orpha.net/ORDO/Orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'has modifier' some 'rare' 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'megaloblastic anemia' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'Epidermolysis bullosa simplex' 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/MONDO_0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'eye disease' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' http://www.orpha.net/ORDO/Orphanet_83471 Thymic aplasia 'Thymic aplasia' SubClassOf 'Immunodeficiency due to absence of thymus' 'Thymic aplasia' SubClassOf 'Immunodeficiency due to absence of thymus' http://www.orpha.net/ORDO/Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_95495 Disease associated with non-acquired combined pituitary hormone deficiency 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_95428 COG8-CDG 'COG8-CDG' SubClassOf 'congenital nervous system disorder' 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_2671 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.orpha.net/ORDO/Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' http://www.orpha.net/ORDO/Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_166105 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Onycho-patellar syndrome with eye involvement' 'Nail-patella syndrome' SubClassOf 'Onycho-patellar syndrome with eye involvement' http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'developmental defect during embryogenesis' 'Linear nevus sebaceus syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2609 Isolated NADH-CoQ reductase deficiency 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Neurometabolic disease' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_166073 Pontocerebellar hypoplasia type 6 'Pontocerebellar hypoplasia type 6' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_2564 Tetramelic monodactyly 'Tetramelic monodactyly' SubClassOf 'congenital limb malformation' 'Tetramelic monodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tetramelic monodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' SubClassOf 'Metabolic disease with skin involvement' 'inherited porphyria' SubClassOf 'Metabolic disease with skin involvement' http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'Genetic dementia' 'cerebral lipidosis with dementia' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_2522 Microcephaly - cervical spine fusion anomalies 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Genetic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndromic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_2543 Microphthalmia - cataract 'Microphthalmia - cataract' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital nervous system disorder' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'vascular neoplasm' 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018718 http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'genetic skin disease' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_83642 Microcytic anemia with liver iron overload 'Microcytic anemia with liver iron overload' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Microcytic anemia with liver iron overload' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://www.orpha.net/ORDO/Orphanet_262146 Partial deletion of the long arm of chromosome 18 'Partial deletion of the long arm of chromosome 18' SubClassOf 'disease has major feature' some 'cataract' 'Partial deletion of the long arm of chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Classic organic aciduria' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_2879 Phocomelia, Schinzel type 'Phocomelia, Schinzel type' SubClassOf 'congenital limb malformation' 'Phocomelia, Schinzel type' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia, Schinzel type' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'congenital limb malformation' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentovascularis' SubClassOf 'has modifier' some 'rare' 'Phakomatosis pigmentovascularis' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2874 Phakomatosis pigmentokeratotica 'Phakomatosis pigmentokeratotica' SubClassOf 'developmental defect during embryogenesis' 'Phakomatosis pigmentokeratotica' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'developmental defect during embryogenesis' 'Peutz-Jeghers syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2884 Piebaldism 'Piebaldism' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Piebaldism' SubClassOf 'has modifier' some 'rare' 'Piebaldism' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_2828 Young adult-onset Parkinsonism 'Young adult-onset Parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_2839 Pelvis-shoulder dysplasia 'Pelvis-shoulder dysplasia' SubClassOf 'congenital limb malformation' 'Pelvis-shoulder dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelvis-shoulder dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2856 Persistent Müllerian duct syndrome 'Persistent Müllerian duct syndrome' SubClassOf 'male infertility' 'Persistent Müllerian duct syndrome' SubClassOf 'has modifier' some 'rare' 'Persistent Müllerian duct syndrome' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.orpha.net/ORDO/Orphanet_2855 Perrault syndrome 'Perrault syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Perrault syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Perrault syndrome' SubClassOf 'female infertility' 'Perrault syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Perrault syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_2854 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fuhrmann syndrome' SubClassOf 'congenital limb malformation' 'Fuhrmann syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'male infertility' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Genetic infertility' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2760 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'congenital limb malformation' 'OSLAM syndrome' SubClassOf 'Dysostosis of genetic origin' 'OSLAM syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_2771 Bruck syndrome 'Bruck syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2712 Oculofaciocardiodental syndrome 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2730 Postaxial tetramelic oligodactyly 'Postaxial tetramelic oligodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Postaxial tetramelic oligodactyly' SubClassOf 'congenital limb malformation' 'Postaxial tetramelic oligodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2744 Horizontal gaze palsy with progressive scoliosis 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Syndrome with a symptomatic strabismus' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_178509 Perry syndrome 'Perry syndrome' SubClassOf 'parkinsonian disorder' 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease - ganglioneuroblastoma 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'predisposes towards' some 'neuroblastoma' http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Holoprosencephaly' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_2249 Ulna hypoplasia - intellectual disability 'Ulna hypoplasia - intellectual disability' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulna hypoplasia - intellectual disability' SubClassOf 'congenital limb malformation' 'Ulna hypoplasia - intellectual disability' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.orpha.net/ORDO/Orphanet_2204 Dysplastic cortical hyperostosis 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2218 Cervical hypertrichosis - peripheral neuropathy 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'central nervous system malformation' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' SubClassOf 'male infertility' 'male genital tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020091 http://www.ebi.ac.uk/efo/EFO_1001050 multiple system atrophy 'multiple system atrophy' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'multiple system atrophy' SubClassOf 'movement disorder' 'multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.ebi.ac.uk/efo/EFO_1001222 type III hypersensitivity reaction disease 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_2075 Genito-palato-cardiac syndrome 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic 46,XY disorder of sex development' 'Genito-palato-cardiac syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Malformation syndrome with hamartosis' 'Focal dermal hypoplasia' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2050 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2063 Splenogonadal fusion - limb defects - micrognathia 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'congenital limb malformation' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2138 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX ovotesticular disorder of sex development' SubClassOf 'female infertility' '46,XX ovotesticular disorder of sex development' SubClassOf 'Female infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'generalised epilepsy' http://www.orpha.net/ORDO/Orphanet_166478 Cerebral malformation with epilepsy 'Cerebral malformation with epilepsy' EquivalentTo 'cerebral malformation' and ('disease has feature' some 'epilepsy') 'Cerebral malformation with epilepsy' SubClassOf 'disease has feature' some 'epilepsy' 'Cerebral malformation with epilepsy' SubClassOf 'cerebral malformation' 'Cerebral malformation with epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001164 SAPHO syndrome 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_166466 Neurocutaneous syndrome with epilepsy 'Neurocutaneous syndrome with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'Neurocutaneous syndrome with epilepsy' SubClassOf 'neurocutaneous syndrome' 'Neurocutaneous syndrome with epilepsy' EquivalentTo 'neurocutaneous syndrome' and ('disease has major feature' some 'epilepsy') http://www.orpha.net/ORDO/Orphanet_166487 Cerebral diseases of vascular origin with epilepsy 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'epilepsy' 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'autoinflammatory syndrome' 'Cherubism' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Cherubism' SubClassOf 'hereditary disorder of connective tissue' 'Cherubism' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation' 'Cornelia de Lange syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Cornelia de Lange syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cat-eye syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'congenital nervous system disorder' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'central nervous system malformation' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_104 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Beta-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_111 Barth syndrome 'Barth syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Barth syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Barth syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Barth syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome 'Björnstad syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Björnstad syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'CHARGE syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' 'CHARGE syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_148 Multiple carboxylase deficiency 'Multiple carboxylase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Multiple carboxylase deficiency' SubClassOf 'has modifier' some 'rare' 'Multiple carboxylase deficiency' SubClassOf 'genetic skin disease' 'Multiple carboxylase deficiency' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Campomelic dysplasia' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_159 Carnitine-acylcarnitine translocase deficiency 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'congenital limb malformation' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chédiak-Higashi syndrome' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_165 Neutral lipid storage disease 'Neutral lipid storage disease' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Neutral lipid storage disease' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia with congenital cataracts 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Metabolic disease with cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_162 Cataract-glaucoma 'Cataract-glaucoma' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Metabolic disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_71271 Split hand - split foot - deafness 'Split hand - split foot - deafness' SubClassOf 'congenital limb malformation' 'Split hand - split foot - deafness' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Split hand - split foot - deafness' SubClassOf 'Genetic syndrome with limb reduction defects' 'Split hand - split foot - deafness' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Split hand - split foot - deafness' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_71275 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_2496 Mesomelia-synostoses syndrome 'Mesomelia-synostoses syndrome' SubClassOf 'Acromesomelic dysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'osteochondrodysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2438 Hand-foot-genital syndrome 'Hand-foot-genital syndrome' SubClassOf 'congenital limb malformation' 'Hand-foot-genital syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hand-foot-genital syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2435 Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'pigmentation disease' http://www.orpha.net/ORDO/Orphanet_2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_2427 Macrocephaly - short stature - paraplegia 'Macrocephaly - short stature - paraplegia' SubClassOf 'Rare genetic neurological disorder' 'Macrocephaly - short stature - paraplegia' SubClassOf 'central nervous system malformation' 'Macrocephaly - short stature - paraplegia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_139027 Malformation syndrome with skin/mucosae involvement 'Malformation syndrome with skin/mucosae involvement' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_139039 Orofacial clefting syndrome 'Orofacial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'male infertility' 'Klinefelter's syndrome' SubClassOf 'Genetic infertility' 'Klinefelter's syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.ebi.ac.uk/efo/EFO_1001008 kuru 'kuru' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'kuru' SubClassOf 'movement disorder' 'kuru' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 http://www.orpha.net/ORDO/Orphanet_2271 Congenital ichthyosis - microcephalus - tetraplegia 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2289 Neuronal intranuclear inclusion disease 'Neuronal intranuclear inclusion disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2379 Early-onset parkinsonism - intellectual disability 'Early-onset parkinsonism - intellectual disability' SubClassOf 'parkinsonian disorder' 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'Neurodegenerative disease with chorea' http://www.orpha.net/ORDO/Orphanet_2310 Absence deformity of leg - cataract 'Absence deformity of leg - cataract' SubClassOf 'congenital limb malformation' 'Absence deformity of leg - cataract' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absence deformity of leg - cataract' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2318 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with oculorenal defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2315 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Johanson-Blizzard syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_2329 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'congenital limb malformation' 'Karsch-Neugebauer syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Karsch-Neugebauer syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_2307 IVIC syndrome 'IVIC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'IVIC syndrome' SubClassOf 'congenital limb malformation' 'IVIC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2300 Multiple intestinal atresia 'Multiple intestinal atresia' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_48818 Aceruloplasminemia 'Aceruloplasminemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Aceruloplasminemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://www.orpha.net/ORDO/Orphanet_34217 Naxos disease 'Naxos disease' SubClassOf 'Syndromic hair shaft abnormality' 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 http://www.orpha.net/ORDO/Orphanet_293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_349 Fucosidosis 'Fucosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Fucosidosis' SubClassOf 'has modifier' some 'rare' 'Fucosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_347 Frasier syndrome 'Frasier syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_343 Hyperimmunoglobulinemia D with periodic fever 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_342 Familial Mediterranean fever 'Familial Mediterranean fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Familial Mediterranean fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_183494 Genetic immune deficiency with skin involvement 'Genetic immune deficiency with skin involvement' SubClassOf 'genetic skin disease' 'Genetic immune deficiency with skin involvement' SubClassOf 'has modifier' some 'rare' 'Genetic immune deficiency with skin involvement' SubClassOf 'immune system disease' 'Genetic immune deficiency with skin involvement' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_355 Gaucher disease 'Gaucher disease' SubClassOf 'has modifier' some 'rare' 'Gaucher disease' SubClassOf 'Metabolic disease with corneal opacity' 'Gaucher disease' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_354 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'GM1 gangliosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_352 Galactosemia 'Galactosemia' SubClassOf 'Cataract associated with a metabolic disease' 'Galactosemia' SubClassOf 'Metabolic disease with cataract' 'Galactosemia' SubClassOf 'disease has feature' some 'metabolic disease' 'Galactosemia' SubClassOf 'Metabolic disease with cataract' 'Galactosemia' SubClassOf 'Cataract associated with a metabolic disease' http://www.orpha.net/ORDO/Orphanet_351 Galactosialidosis 'Galactosialidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Galactosialidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Galactosialidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Galactosialidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Galactosialidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Galactosialidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_377 Gorlin syndrome 'Gorlin syndrome' SubClassOf 'developmental defect during embryogenesis' 'Gorlin syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_370 Glycogen storage disease due to phosphorylase kinase deficiency 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_385 Neurodegeneration with brain iron accumulation 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Inborn errors of metabolism' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_399 Huntington disease 'Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'Metabolic disease with cataract' 'Classical homocystinuria' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_183463 Genetic pigmentation anomaly of the skin 'Genetic pigmentation anomaly of the skin' SubClassOf 'pigmentation disease' http://www.orpha.net/ORDO/Orphanet_392 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_268950 Cerebral cortical dysplasia 'Cerebral cortical dysplasia' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with cataract' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'interstitial lung disease specific to childhood' 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_435 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Ito hypomelanosis' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_452 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_220 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Denys-Drash syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Duane retraction syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_232 Sickle cell anemia 'Sickle cell anemia' SubClassOf 'Hematological disorder with renal involvement' 'Sickle cell anemia' SubClassOf 'kidney disease' 'Sickle cell anemia' SubClassOf 'Hematological disorder with renal involvement' http://www.orpha.net/ORDO/Orphanet_243 46,XX gonadal dysgenesis '46,XX gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX gonadal dysgenesis' SubClassOf 'female infertility' '46,XX gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_241 Dyschromatosis universalis 'Dyschromatosis universalis' SubClassOf 'pigmentation disease' http://www.orpha.net/ORDO/Orphanet_325357 46,XY disorder of sex development due to impaired androgen production '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_262 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Steinert myotonic dystrophy' SubClassOf 'Myopathy with eye involvement' 'Steinert myotonic dystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Steinert myotonic dystrophy' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_288 Hereditary elliptocytosis 'Hereditary elliptocytosis' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_286 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_282 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia' SubClassOf 'Genetic frontotemporal degeneration with dementia' http://www.orpha.net/ORDO/Orphanet_281 Monosomy 5p 'Monosomy 5p' SubClassOf 'Syndrome with a symptomatic strabismus' 'Monosomy 5p' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_183422 Polymalformative genetic syndrome with increased risk of developing cancer 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'Inherited cancer-predisposing syndrome' 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_302 Epidermodysplasia verruciformis 'Epidermodysplasia verruciformis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Epidermodysplasia verruciformis' SubClassOf 'genetic skin disease' 'Epidermodysplasia verruciformis' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'Genetic keratinization disorder associated with ocular features' http://www.orpha.net/ORDO/Orphanet_326 Congenital factor V deficiency 'Congenital factor V deficiency' SubClassOf 'hemorrhagic disease' 'Congenital factor V deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'Cataract associated with a metabolic disease' 'Fabry disease' SubClassOf 'Metabolic disease with corneal opacity' 'Fabry disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Fabry disease' SubClassOf 'disease has feature' some 'metabolic disease' 'Fabry disease' SubClassOf 'Cataract associated with a metabolic disease' 'Fabry disease' SubClassOf 'Metabolic disease with corneal opacity' 'Fabry disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_335 Congenital fibrinogen deficiency 'Congenital fibrinogen deficiency' SubClassOf 'hemorrhagic disease' 'Congenital fibrinogen deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_332 Congenital intrinsic factor deficiency 'Congenital intrinsic factor deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Congenital intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'Congenital intrinsic factor deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'hemorrhagic disease' 'Congenital factor XIII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_329 Congenital factor XI deficiency 'Congenital factor XI deficiency' SubClassOf 'hemorrhagic disease' 'Congenital factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_93614 Hematological disorder with renal involvement 'Hematological disorder with renal involvement' SubClassOf 'hematologic disease' 'Hematological disorder with renal involvement' SubClassOf 'kidney disease' 'Hematological disorder with renal involvement' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_93610 Distal renal tubular acidosis with anemia 'Distal renal tubular acidosis with anemia' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Distal renal tubular acidosis with anemia' SubClassOf 'familial hemolytic anemia' 'Distal renal tubular acidosis with anemia' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Muscle-eye-brain disease' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Multiple sulfatase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Multiple sulfatase deficiency' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Multiple sulfatase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 'Mucopolysaccharidosis type 7' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 7' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 7' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' EquivalentTo 'disorder of fatty acid oxidation and ketogenesis' and 'hypertrophic cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_583 Mucopolysaccharidosis type 6 'Mucopolysaccharidosis type 6' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 6' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 6' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 6' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 6' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_582 Mucopolysaccharidosis type 4 'Mucopolysaccharidosis type 4' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 4' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 4' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 4' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 4' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 3' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_217581 Lysosomal disease with hypertrophic cardiomyopathy 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'Lysosomal disease' 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217587 Mitochondrial disease with hypertrophic cardiomyopathy 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'inborn mitochondrial metabolism disorder' http://www.orpha.net/ORDO/Orphanet_183678 Hermansky-Pudlak syndrome with neutropenia 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' http://www.orpha.net/ORDO/Orphanet_622 Homocystinuria without methylmalonic aciduria 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Netherton syndrome' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Netherton syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_627 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Nance-Horan syndrome' SubClassOf 'Dentocutaneous disease with cataract' http://www.orpha.net/ORDO/Orphanet_644 NARP syndrome 'NARP syndrome' SubClassOf 'metabolic epilepsy' 'NARP syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'NARP syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'NARP syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'NARP syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_638 Neurofibromatosis-Noonan syndrome 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has modifier' some 'rare' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis type 1' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_650 LCAT deficiency 'LCAT deficiency' SubClassOf 'Metabolic disease with corneal opacity' 'LCAT deficiency' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Syndrome with a symptomatic strabismus' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_672 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Pallister-Hall syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.orpha.net/ORDO/Orphanet_217572 Glycogen storage disease with hypertrophic cardiomyopathy 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217566 Chronic respiratory distress with surfactant metabolism deficiency 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'primary interstitial lung disease in childhood and adulthood' 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017032 http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'has modifier' some 'rare' 'leprosy' SubClassOf 'male infertility' 'leprosy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020091 http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis type 3' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 3' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cobblestone lissencephaly' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cobblestone lissencephaly' http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Distal myopathy, Nonaka type' SubClassOf 'congenital nervous system disorder' 'Distal myopathy, Nonaka type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_91131 DK1-CDG 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'familial hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/OBI_0002584 differential expression analysis data 'differential expression analysis data' SubClassOf 'data set' http://www.orpha.net/ORDO/Orphanet_469 Hereditary fructose intolerance 'Hereditary fructose intolerance' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'hemorrhagic disease' 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'pigmentation disease' 'Incontinentia pigmenti' SubClassOf 'Dentocutaneous disease with cataract' 'Incontinentia pigmenti' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Incontinentia pigmenti' SubClassOf 'Dentocutaneous disease with cataract' 'Incontinentia pigmenti' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Incontinentia pigmenti' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_483 Congenital high-molecular-weight kininogen deficiency 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'hemorrhagic disease' 'Congenital high-molecular-weight kininogen deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_480 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Kearns-Sayre syndrome' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_325124 Testicular agenesis 'Testicular agenesis' SubClassOf 'male infertility' 'Testicular agenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular agenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_398073 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_183570 Genetic malformation syndrome with short stature 'Genetic malformation syndrome with short stature' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_325109 Syndrome with 46,XX disorder of sex development 'Syndrome with 46,XX disorder of sex development' SubClassOf 'Genetic 46,XX disorder of sex development' 'Syndrome with 46,XX disorder of sex development' SubClassOf 'Genetic 46,XX disorder of sex development' 'Syndrome with 46,XX disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_183580 Genetic malformation syndrome with odontal and/or periodontal component 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'Metabolic disease with dementia' 'Metachromatic leukodystrophy' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_506 Leigh syndrome 'Leigh syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'eye disease' 'Oculocerebrorenal syndrome' SubClassOf 'Renal disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Metabolic disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Renal disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_551 MERRF 'MERRF' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MERRF' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' '22q11.2 deletion syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebral disease with cataract' 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebral disease with cataract' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 1' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 1' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 1' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'has modifier' some 'rare' 'Mucolipidosis type IV' SubClassOf 'Metabolic disease with corneal opacity' 'Mucolipidosis type IV' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_577 Mucolipidosis type III 'Mucolipidosis type III' SubClassOf 'has modifier' some 'rare' 'Mucolipidosis type III' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucolipidosis type III' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_570 Moebius syndrome 'Moebius syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Moebius syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Okihiro syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Okihiro syndrome' SubClassOf 'congenital limb malformation' 'Okihiro syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Okihiro syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://www.orpha.net/ORDO/Orphanet_254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_254793 Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Treacher-Collins syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_7 3C syndrome '3C syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' '3C syndrome' SubClassOf 'central nervous system malformation' '3C syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' '3C syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_859 Transcobalamin deficiency 'Transcobalamin deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'Transcobalamin deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Transcobalamin deficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Transcobalamin deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'congenital limb malformation' 'Townes-Brocks syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Townes-Brocks syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_868 Triose phosphate-isomerase deficiency 'Triose phosphate-isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Triose phosphate-isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Triose phosphate-isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'Overgrowth syndrome' 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'female infertility' 'Turner syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Turner syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_897 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Genetic 46,XY disorder of sex development' 'WAGR syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'developmental defect during embryogenesis' 'Von Hippel-Lindau disease' SubClassOf 'Malformation syndrome with hamartosis' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_822 Hereditary spherocytosis 'Hereditary spherocytosis' SubClassOf 'familial hemolytic anemia' 'Hereditary spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_821 Sotos syndrome 'Sotos syndrome' SubClassOf 'Cerebral disease with cataract' 'Sotos syndrome' SubClassOf 'Overgrowth syndrome' 'Sotos syndrome' SubClassOf 'Cerebral disease with cataract' 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Metabolic disease with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with cataract' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Sjögren-Larsson syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with cataract' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Sjögren-Larsson syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' http://www.orpha.net/ORDO/Orphanet_812 sialidosis type I 'sialidosis type I' SubClassOf 'Metabolic disease with macular cherry-red spot' 'sialidosis type I' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Stickler syndrome' SubClassOf 'Musculoskeletal disease with cataract' http://www.orpha.net/ORDO/Orphanet_848 Beta-thalassemia 'Beta-thalassemia' SubClassOf 'kidney disease' 'Beta-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Beta-thalassemia' SubClassOf 'Hematological disorder with renal involvement' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_846 Alpha-thalassemia 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Alpha-thalassemia' SubClassOf 'kidney disease' 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' http://www.orpha.net/ORDO/Orphanet_845 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Tay-Sachs disease' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_313795 Jawad syndrome 'Jawad syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Jawad syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_2911 Poland syndrome 'Poland syndrome' SubClassOf 'congenital limb malformation' 'Poland syndrome' SubClassOf 'Syndrome with brachydactyly' 'Poland syndrome' SubClassOf 'syndromic disease' 'Poland syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Rothmund-Thomson syndrome' SubClassOf 'Dentocutaneous disease with cataract' http://www.orpha.net/ORDO/Orphanet_2940 Porencephaly 'Porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://www.orpha.net/ORDO/Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has modifier' some 'congenital' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_95702 Cytomegalic congenital adrenal hypoplasia 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_95719 Thyroid hemiagenesis 'Thyroid hemiagenesis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019859 'Thyroid hemiagenesis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' http://www.orpha.net/ORDO/Orphanet_95711 Congenital hypothyroidism due to developmental anomaly 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95712 Thyroid ectopia 'Thyroid ectopia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid ectopia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' http://www.orpha.net/ORDO/Orphanet_95713 Athyreosis 'Athyreosis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Athyreosis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' http://www.orpha.net/ORDO/Orphanet_95714 Primary congenital hypothyroidism without thyroid developmental anomaly 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis 'Familial thyroid dyshormonogenesis' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Familial thyroid dyshormonogenesis' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' http://www.orpha.net/ORDO/Orphanet_95720 Thyroid hypoplasia 'Thyroid hypoplasia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019859 'Thyroid hypoplasia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' http://www.orpha.net/ORDO/Orphanet_276061 Genetic frontotemporal degeneration with dementia 'Genetic frontotemporal degeneration with dementia' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_742 Prolidase deficiency 'Prolidase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Prolidase deficiency' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_739 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_217638 Lysosomal disease with restrictive cardiomyopathy 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Lysosomal disease' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' http://www.orpha.net/ORDO/Orphanet_752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Disorder of lipid metabolism' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_749 Congenital prekallikrein deficiency 'Congenital prekallikrein deficiency' SubClassOf 'hemorrhagic disease' 'Congenital prekallikrein deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_766 Hemolytic anemia due to red cell pyruvate kinase deficiency 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'metabolic epilepsy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'developmental defect during embryogenesis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with hamartosis' http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency 'factor XI deficiency' SubClassOf 'hemorrhagic disease' 'factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'Syndrome with brachydactyly' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital limb malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_782 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Axenfeld-Rieger syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Axenfeld-Rieger syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_156237 Syndrome or malformation associated with head and neck malformations 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'Genetic head and neck malformation' 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'otorhinolaryngologic disease' 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'genetic otorhinolaryngologic disease' 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'disorder of facial skeleton' 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://www.orpha.net/ORDO/Orphanet_796 Sandhoff disease 'Sandhoff disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Sandhoff disease' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' http://www.orpha.net/ORDO/Orphanet_171851 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'MEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.orpha.net/ORDO/Orphanet_156202 Otomandibular dysplasia associated with monogenic syndromes 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Otomandibular dysplasia' 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Otomandibular dysplasia' http://www.orpha.net/ORDO/Orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital nervous system disorder' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_2946 Brachydactyly - long thumb 'Brachydactyly - long thumb' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - long thumb' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_709 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'congenital nervous system disorder' 'Peters plus syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Peters plus syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_217610 Neuromuscular disease with dilated cardiomyopathy 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'neuromuscular disease' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_217613 Mitochondrial disease with dilated cardiomyopathy 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217619 Syndrome associated with dilated cardiomyopathy 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Inborn errors of metabolism' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Disorder of glycolysis' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Disorder of glycolysis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_731 Autosomal recessive polycystic kidney disease 'Autosomal recessive polycystic kidney disease' SubClassOf 'male infertility' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.orpha.net/ORDO/Orphanet_2983 Disorder of sex development - intellectual disability 'Disorder of sex development - intellectual disability' SubClassOf 'has modifier' some 'rare' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Alpers syndrome' SubClassOf 'metabolic epilepsy' 'Alpers syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_93448 Lysosomal storage disease with skeletal involvement 'Lysosomal storage disease with skeletal involvement' SubClassOf 'bone disease' 'Lysosomal storage disease with skeletal involvement' SubClassOf 'has modifier' some 'rare' 'Lysosomal storage disease with skeletal involvement' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_93447 Primary bone dysplasia with defective bone mineralization 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93446 Primary bone dysplasia with decreased bone density 'Primary bone dysplasia with decreased bone density' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with decreased bone density' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_93444 Primary bone dysplasia with increased bone density 'Primary bone dysplasia with increased bone density' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with increased bone density' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_93443 Neonatal osteosclerotic dysplasia 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93450 Primary bone dysplasia with disorganized development of skeletal components 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93459 Syndrome with synostosis or other joint formation defect 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Dysostosis of genetic origin' 'Syndrome with synostosis or other joint formation defect' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Hurler syndrome' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_93441 Primary bone dysplasia with multiple joint dislocations 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_254930 Combined oxidative phosphorylation defect type 7 'Combined oxidative phosphorylation defect type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_254925 Combined oxidative phosphorylation defect type 4 'Combined oxidative phosphorylation defect type 4' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 4' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_254902 Renal tubulopathy - encephalopathy - liver failure 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_254920 Combined oxidative phosphorylation defect type 2 'Combined oxidative phosphorylation defect type 2' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 2' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'hemorrhagic disease' 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_168563 46,XY gonadal dysgenesis - motor and sensory neuropathy '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with 46,XY disorder of sex development' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_168569 H syndrome 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.orpha.net/ORDO/Orphanet_168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_168593 Sudden infant death - dysgenesis of the testes 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has modifier' some 'rare' 'Sudden infant death - dysgenesis of the testes' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Sudden infant death - dysgenesis of the testes' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis 'Metabolic acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0001913 Granulocytopenia 'Granulocytopenia' SubClassOf 'Abnormal leukocyte morphology' http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_93333 Pelviscapular dysplasia 'Pelviscapular dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelviscapular dysplasia' SubClassOf 'congenital limb malformation' 'Pelviscapular dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_325511 46,XY disorder of sex development due to cholesterol synthesis defect '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' http://www.ebi.ac.uk/efo/EFO_1001836 pyogenic liver abscess 'pyogenic liver abscess' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_93396 Brachydactyly type A2 'Brachydactyly type A2' SubClassOf 'syndromic disease' 'Brachydactyly type A2' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_978 ADULT syndrome 'ADULT syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'ADULT syndrome' SubClassOf 'congenital limb malformation' 'ADULT syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_991 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_989 Hypoglossia - hypodactyly 'Hypoglossia - hypodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hypoglossia - hypodactyly' SubClassOf 'congenital limb malformation' 'Hypoglossia - hypodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_988 Absent tibia - polydactyly 'Absent tibia - polydactyly' SubClassOf 'congenital limb malformation' 'Absent tibia - polydactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absent tibia - polydactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_181402 Syndrome with hypoparathyroidism 'Syndrome with hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Syndrome with hypoparathyroidism' SubClassOf 'syndromic disease' 'Syndrome with hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Metabolic disease with cataract' 'Cerebrotendinous xanthomatosis' SubClassOf 'Metabolic disease with cataract' 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016405 http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Fragile X syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'genetic skin disease' 'Wiskott-Aldrich syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Wiskott-Aldrich syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'Metabolic disease with cataract' 'Wilson disease' SubClassOf 'Metabolic disease with corneal opacity' 'Wilson disease' SubClassOf 'Metabolic disease with cataract' 'Wilson disease' SubClassOf 'Metabolic disease with corneal opacity' http://www.orpha.net/ORDO/Orphanet_903 Von Willebrand disease 'Von Willebrand disease' SubClassOf 'hemorrhagic disease' 'Von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_916 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Aase-Smith syndrome' SubClassOf 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Metabolic disease with cataract' 'Zellweger syndrome' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_946 Acrocephalosyndactyly 'Acrocephalosyndactyly' SubClassOf 'congenital limb malformation' 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_974 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Adams-Oliver syndrome' SubClassOf 'congenital limb malformation' 'Adams-Oliver syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 3' SubClassOf 'neuroblastoma' 'neuroblastoma, susceptibility to, 3' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_137634 Overgrowth - macrocephaly - facial dysmorphism 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Overgrowth syndrome' 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' http://www.orpha.net/ORDO/Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_137605 Legius syndrome 'Legius syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Legius syndrome' SubClassOf 'developmental defect during embryogenesis' 'Legius syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'has modifier' some 'rare' 'Neonatal Marfan syndrome' SubClassOf 'vascular disease' 'Neonatal Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_353327 Congenital myasthenic syndromes with glycosylation defect 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital nervous system disorder' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Cryopyrin-associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Cryopyrin-associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_306708 Frontotemporal neurodegeneration with movement disorder 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'has modifier' some 'rare' 'Neurodegenerative disease with chorea' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_137831 X-linked intellectual disability - cerebellar hypoplasia 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_269570 Genetic syndrome with a Dandy-Walker malformation as major feature 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_269567 Genetic syndrome with a cerebellar malformation as major feature 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_269564 Genetic syndrome with a central nervous system malformation as major feature 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf 'central nervous system malformation' http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'Metabolic disease with dementia' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'movement disorder' 'chorea' SubClassOf 'has modifier' some 'rare' 'chorea' SubClassOf 'Neurodegenerative disease with chorea' http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://purl.obolibrary.org/obo/MONDO_0015346 Jeavons syndrome 'Jeavons syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_269528 Syndrome with microcephaly as major feature 'Syndrome with microcephaly as major feature' SubClassOf 'Rare genetic neurological disorder' 'Syndrome with microcephaly as major feature' SubClassOf 'syndromic disease' 'Syndrome with microcephaly as major feature' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_137675 Histiocytoid cardiomyopathy 'Histiocytoid cardiomyopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'Histiocytoid cardiomyopathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Histiocytoid cardiomyopathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_400025 Female infertility due to an implantation defect of genetic origin 'Female infertility due to an implantation defect of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018403 http://www.orpha.net/ORDO/Orphanet_255210 Maternally-inherited Leigh syndrome 'Maternally-inherited Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_231230 Beta-thalassemia associated with another hemoglobin anomaly 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some 'rare' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://purl.obolibrary.org/obo/HP_0200119 Acute hepatitis 'Acute hepatitis' SubClassOf 'Hepatitis' http://www.orpha.net/ORDO/Orphanet_363294 Genetic syndromic Pierre Robin syndrome 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_280071 ALG11-CDG 'ALG11-CDG' SubClassOf 'congenital nervous system disorder' 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0004208 Vitiligo 'Vitiligo' SubClassOf 'type II hypersensitivity reaction disease' 'Vitiligo' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.ebi.ac.uk/efo/EFO_0004235 exfoliation syndrome 'exfoliation syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_101992 Immunodeficiency due to a complement cascade protein anomaly 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.ebi.ac.uk/efo/EFO_0004278 sudden cardiac arrest 'sudden cardiac arrest' SubClassOf 'cardiac rhythm disease' 'sudden cardiac arrest' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015081 http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015081 http://www.orpha.net/ORDO/Orphanet_42775 PHACE syndrome 'PHACE syndrome' SubClassOf 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin' 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_231393 Beta-thalassemia - X-linked thrombocytopenia 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'Beta-thalassemia with other manifestations' 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'Beta-thalassemia with other manifestations' http://www.orpha.net/ORDO/Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_231386 Beta-thalassemia with other manifestations 'Beta-thalassemia with other manifestations' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia with other manifestations' SubClassOf 'Beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation, type IIq' SubClassOf 'Neurometabolic disease' 'congenital disorder of glycosylation, type IIq' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_42665 Tietz syndrome 'Tietz syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Tietz syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_66631 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'CEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' http://www.orpha.net/ORDO/Orphanet_42642 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_404574 Genetic syndrome with limb reduction defects 'Genetic syndrome with limb reduction defects' SubClassOf 'dysostosis' 'Genetic syndrome with limb reduction defects' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_98592 Palpebral tumor with a vascular malformation 'Palpebral tumor with a vascular malformation' SubClassOf 'genetic skin disease' 'Palpebral tumor with a vascular malformation' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_98538 Ataxia with dementia 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia with dementia' SubClassOf 'disease has major feature' some 'dementia' 'Ataxia with dementia' SubClassOf 'Genetic dementia' http://www.orpha.net/ORDO/Orphanet_98543 Metabolic disease with dementia 'Metabolic disease with dementia' SubClassOf 'Genetic dementia' 'Metabolic disease with dementia' SubClassOf 'Genetic dementia' 'Metabolic disease with dementia' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_98557 Syndromic aniridia 'Syndromic aniridia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_225703 Mitochondrial disease with peripheral neuropathy 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_98408 Constitutional megaloblastic anemia due to folate metabolism disorder 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'vitamin metabolic disorder' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Organic aciduria' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'megaloblastic anemia' http://www.orpha.net/ORDO/Orphanet_402075 Familial bicuspid aortic valve 'Familial bicuspid aortic valve' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial bicuspid aortic valve' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_98464 X-linked syndromic intellectual disability 'Syndromic neurometabolic disease with non-X-linked intellectual disability' DisjointWith 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-CGD 'COG6-CGD' SubClassOf 'congenital nervous system disorder' 'COG6-CGD' SubClassOf 'Neurometabolic disease' 'COG6-CGD' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_331249 Immunodeficiency syndrome with hypopigmentation 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'genetic skin disease' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'immunodeficiency disease' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'pigmentation disease' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' http://www.orpha.net/ORDO/Orphanet_331220 Immunodeficiency due to absence of thymus 'Immunodeficiency due to absence of thymus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_331223 Hyper-IgE syndrome 'Hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.ebi.ac.uk/efo/EFO_0008598 autoimmune bullous skin disease 'autoimmune bullous skin disease' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune bullous skin disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.orpha.net/ORDO/Orphanet_98759 Spinocerebellar ataxia type 17 'Spinocerebellar ataxia type 17' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' http://www.orpha.net/ORDO/Orphanet_98700 Pigmentation disorder with eye involvement 'Pigmentation disorder with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Pigmentation disorder with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_98704 Onycho-patellar syndrome with eye involvement 'Onycho-patellar syndrome with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Onycho-patellar syndrome with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_98703 Disease with potential neoplastic degeneration associated with ocular features 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_98706 Oculocutaneous or ocular albinism 'Oculocutaneous or ocular albinism' SubClassOf 'has modifier' some 'rare' 'Oculocutaneous or ocular albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' DisjointWith 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_98708 Pigmentation disorder with eye involvement, excluding albinism 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' DisjointWith 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_98711 Metabolic disease with corneal opacity 'Metabolic disease with corneal opacity' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with corneal opacity' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98710 Metabolic disease associated with ocular features 'Metabolic disease associated with ocular features' SubClassOf 'has modifier' some 'rare' 'Metabolic disease associated with ocular features' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98713 Metabolic disease with pigmentary retinitis 'Metabolic disease with pigmentary retinitis' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with pigmentary retinitis' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98712 Metabolic disease with cataract 'Metabolic disease with cataract' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with cataract' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98714 Metabolic disease with macular cherry-red spot 'Metabolic disease with macular cherry-red spot' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with macular cherry-red spot' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_308520 Glycogen storage disease due to glycogen synthase deficiency 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://purl.obolibrary.org/obo/MONDO_0013733 accelerated tumor formation, susceptibility to 'accelerated tumor formation, susceptibility to' SubClassOf 'inherited disease susceptibility' 'accelerated tumor formation, susceptibility to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013775 thrombomodulin-related bleeding disorder 'thrombomodulin-related bleeding disorder' SubClassOf 'hemorrhagic disease' 'thrombomodulin-related bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_139471 Microphthalmia with brain and digit anomalies 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_404469 Female infertility due to fertilization defect 'Female infertility due to fertilization defect' SubClassOf 'has modifier' some 'rare' 'Female infertility due to fertilization defect' SubClassOf 'female infertility' http://www.orpha.net/ORDO/Orphanet_404463 Multisystemic smooth muscle dysfunction syndrome 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_139480 Autosomal recessive spastic paraplegia type 39 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' http://www.orpha.net/ORDO/Orphanet_98632 Glaucoma associated with neural crest cell migration anomaly 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'neurocristopathy' 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98645 Cerebral disease with cataract 'Cerebral disease with cataract' SubClassOf 'nervous system disease' 'Cerebral disease with cataract' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98644 Cataract associated with a metabolic disease 'Cataract associated with a metabolic disease' SubClassOf 'Syndromic cataract' 'Cataract associated with a metabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_98647 Cardiac disease with cataract 'Cardiac disease with cataract' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_98646 Renal disease with cataract 'Renal disease with cataract' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_98649 Dentocutaneous disease with cataract 'Dentocutaneous disease with cataract' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98648 Musculoskeletal disease with cataract 'Musculoskeletal disease with cataract' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_60030 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'has modifier' some 'rare' 'Loeys-Dietz syndrome' SubClassOf 'vascular disease' 'Loeys-Dietz syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Loeys-Dietz syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital limb malformation' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_96072 4p16.3 microduplication syndrome '4p16.3 microduplication syndrome' SubClassOf 'Overgrowth syndrome' '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_98673 Autosomal dominant optic atrophy, classic type 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_98683 Syndrome with a symptomatic strabismus 'Syndrome with a symptomatic strabismus' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98689 Myopathy with eye involvement 'Myopathy with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Myopathy with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Myopathy with eye involvement' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'psoriasis 14, pustular' SubClassOf 'hereditary disorder of connective tissue' 'psoriasis 14, pustular' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'psoriasis 14, pustular' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_98696 Genodermatosis with ocular features 'Genodermatosis with ocular features' SubClassOf 'has modifier' some 'rare' 'Genodermatosis with ocular features' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98695 Mitochondrial disease with eye involvement 'Mitochondrial disease with eye involvement' SubClassOf 'Metabolic disease associated with ocular features' 'Mitochondrial disease with eye involvement' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98697 Genetic keratinization disorder associated with ocular features 'Genetic keratinization disorder associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Genetic keratinization disorder associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_221016 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' http://www.orpha.net/ORDO/Orphanet_64755 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'developmental defect during embryogenesis' 'Becker nevus syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.orpha.net/ORDO/Orphanet_64734 Iridocorneal endothelial syndrome 'Iridocorneal endothelial syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_98196 Malformation syndrome with hamartosis 'Malformation syndrome with hamartosis' SubClassOf 'has modifier' some 'rare' 'Malformation syndrome with hamartosis' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian disorder' 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Spinocerebellar ataxia type 28' SubClassOf 'Metabolic disease with dementia' 'Spinocerebellar ataxia type 28' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_98087 Syndrome with 46,XY disorder of sex development 'Syndrome with 46,XY disorder of sex development' SubClassOf 'Genetic 46,XY disorder of sex development' 'Syndrome with 46,XY disorder of sex development' SubClassOf 'Genetic 46,XY disorder of sex development' 'Syndrome with 46,XY disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development due to impaired androgen production' http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'DNA repair deficiency' http://www.orpha.net/ORDO/Orphanet_140952 Syndactyly - telecanthus - anogenital and renal malformations 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'congenital limb malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_86309 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'congenital nervous system disorder' 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_369913 Combined oxidative phosphorylation defect type 17 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_370927 SSR4-CDG 'SSR4-CDG' SubClassOf 'congenital nervous system disorder' 'SSR4-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370921 STT3A-CDG 'STT3A-CDG' SubClassOf 'congenital nervous system disorder' 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370924 STT3B-CDG 'STT3B-CDG' SubClassOf 'congenital nervous system disorder' 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_98366 Constitutional hemolytic anemia due to acanthocytosis 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_98365 Hereditary stomatocytosis 'Hereditary stomatocytosis' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_98360 Constitutional anemia due to iron metabolism disorder 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'Constitutional deficiency anemia' http://www.orpha.net/ORDO/Orphanet_98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'anemia due to enzyme disorder' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'Inborn errors of metabolism' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'normocytic anemia' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://www.orpha.net/ORDO/Orphanet_98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'anemia due to enzyme disorder' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'sulfur metabolism disease' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'normocytic anemia' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_98372 Hemolytic anemia due to a disorder of glycolytic enzymes 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'disorder of organic acid metabolism' 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'carbohydrate metabolism disease' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'congenital nervous system disorder' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_370930 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'XYLT1-CDG' SubClassOf 'congenital nervous system disorder' 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370933 ST3GAL5-CDG 'ST3GAL5-CDG' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_98313 Male infertility due to gonadal dysgenesis 'Male infertility due to gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' 'Male infertility due to gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' http://www.ebi.ac.uk/efo/EFO_0008913 single-cell RNA sequencing 'single-cell RNA sequencing' SubClassOf 'single cell sequencing' http://www.orpha.net/ORDO/Orphanet_370968 Congenital muscular dystrophy with intellectual disability 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_282166 Inherited Creutzfeldt-Jakob disease 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'megaloblastic anemia' 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'inborn vitamin B12 deficiency' http://www.orpha.net/ORDO/Orphanet_369902 Orofaciodigital syndrome type 14 'Orofaciodigital syndrome type 14' SubClassOf 'Rare genetic neurological disorder' 'Orofaciodigital syndrome type 14' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_370980 Congenital muscular dystrophy without intellectual disability 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures 'Benign familial neonatal-infantile seizures' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial neonatal-infantile seizures' SubClassOf 'Benign partial infantile seizures' 'Benign familial neonatal-infantile seizures' SubClassOf 'Benign familial infantile epilepsy' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'hereditary disorder of connective tissue' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'autoinflammatory syndrome' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_306498 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'developmental defect during embryogenesis' 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'PTEN hamartoma tumor syndrome' SubClassOf 'has modifier' some 'rare' 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://purl.obolibrary.org/obo/MONDO_0018718 vascular tumor with associated anomalies 'vascular tumor with associated anomalies' SubClassOf 'vascular neoplasm' 'vascular tumor with associated anomalies' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies 'late-onset scapuloperoneal muscular dystrophy with hyaline bodies' SubClassOf 'Progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018558 syndrome with woolly hair 'syndrome with woolly hair' SubClassOf 'Syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect 'female infertility due to an implantation defect' SubClassOf 'disorder of development or morphogenesis' 'female infertility due to an implantation defect' SubClassOf 'has modifier' some 'rare' 'female infertility due to an implantation defect' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0033948 acquired angioedema with C1Inh deficiency 'acquired angioedema with C1Inh deficiency' SubClassOf 'acquired angioedema' 'acquired angioedema with C1Inh deficiency' EquivalentTo 'acquired angioedema' and ('disease has feature' some 'serpinopathy with loss of serpin function') 'acquired angioedema with C1Inh deficiency' SubClassOf 'disease has feature' some 'serpinopathy with loss of serpin function' http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency 'syndrome with combined immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.ebi.ac.uk/efo/EFO_0020859 bombay phenotype 'bombay phenotype' SubClassOf 'blood group' http://purl.obolibrary.org/obo/MONDO_0016628 hemorrhagic disorder due to a coagulation factors defect 'hemorrhagic disorder due to a coagulation factors defect' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016704 glial tumor of neuroepithelial tissue with unknown origin 'glial tumor of neuroepithelial tissue with unknown origin' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0016405 sterol metabolism disorder with epilepsy 'sterol metabolism disorder with epilepsy' SubClassOf 'Sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy 'mitochondrial disease with epilepsy' SubClassOf 'metabolic epilepsy' 'mitochondrial disease with epilepsy' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial disease with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0000601 autoimmune disorder of urogenital tract 'autoimmune disorder of urogenital tract' SubClassOf 'disease of genitourinary system' 'autoimmune disorder of urogenital tract' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://www.ebi.ac.uk/EFO/EFO_0020860 phospholipid change measurement 'phospholipid change measurement' SubClassOf 'phospholipid measurement' http://www.ebi.ac.uk/EFO/EFO_0020862 free cholesterol change measurement 'free cholesterol change measurement' SubClassOf 'free cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020861 esterified cholesterol change measurement 'esterified cholesterol change measurement' SubClassOf 'esterified cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020864 very low density lipoprotein particle size change measurement 'very low density lipoprotein particle size change measurement' SubClassOf 'very low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020863 intermediate density lipoprotein change measurement 'intermediate density lipoprotein change measurement' SubClassOf 'intermediate density lipoprotein measurement' http://www.ebi.ac.uk/EFO/EFO_0020865 low density lipoprotein particle size change measurement 'low density lipoprotein particle size change measurement' SubClassOf 'low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020858 chylomicron change measurement 'chylomicron change measurement' SubClassOf 'chylomicron measurement' http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract 'chromosomal anomaly with cataract' SubClassOf 'disease has major feature' some 'cataract' 'chromosomal anomaly with cataract' SubClassOf 'Chromosomal anomaly' 'chromosomal anomaly with cataract' EquivalentTo 'Chromosomal anomaly' and ('disease has major feature' some 'cataract') http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to 'neuroblastoma, susceptibility to' SubClassOf 'inherited disease susceptibility' 'neuroblastoma, susceptibility to' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neuroblastoma') http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia 'male infertility due to obstructive azoospermia' SubClassOf 'male infertility' 'male infertility due to obstructive azoospermia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0022519 autoimmune myocarditis 'autoimmune myocarditis' SubClassOf 'autoimmune cardiomyopathy' 'autoimmune myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia, nonspherocytic hemolytic' http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement 'autoinflammatory syndrome with skin involvement' EquivalentTo 'autoinflammatory syndrome' and ('disease has feature' some 'skin disease') 'autoinflammatory syndrome with skin involvement' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome with skin involvement' SubClassOf 'disease has feature' some 'skin disease' http://purl.obolibrary.org/obo/MONDO_0017361 congenital rubella syndrome 'congenital rubella syndrome' EquivalentTo 'rubella' and ('has modifier' some 'congenital') 'congenital rubella syndrome' SubClassOf 'rubella' 'congenital rubella syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital rubella syndrome' SubClassOf 'infectious embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0019859 congenital thyroid malformation without hypothyroidism 'congenital thyroid malformation without hypothyroidism' SubClassOf 'has modifier' some 'rare' 'congenital thyroid malformation without hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'congenital thyroid malformation without hypothyroidism' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth 'chromosomal disease with overgrowth' SubClassOf 'Chromosomal anomaly' 'chromosomal disease with overgrowth' EquivalentTo 'Chromosomal anomaly' and 'Overgrowth syndrome' 'chromosomal disease with overgrowth' SubClassOf 'Overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0020637 mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' DisjointWith 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0020636 mendelian susceptibility to mycobacterial diseases due to a complete deficiency 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' DisjointWith 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017028 secondary interstitial lung disease specific to adulthood associated with a systemic disease 'secondary interstitial lung disease specific to adulthood associated with a systemic disease' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0017024 secondary interstitial lung disease specific to childhood associated with a metabolic disease 'secondary interstitial lung disease specific to childhood associated with a metabolic disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease 'secondary interstitial lung disease specific to childhood associated with a systemic disease' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017032 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder 'primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' SubClassOf 'primary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy 'metabolic disease with epilepsy' SubClassOf 'metabolic disease' 'metabolic disease with epilepsy' SubClassOf 'has modifier' some 'rare' 'metabolic disease with epilepsy' SubClassOf 'epilepsy' 'metabolic disease with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'metabolic disease with epilepsy' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'epilepsy') http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement 'autoimmune disease with skin involvement' SubClassOf 'skin disease' 'autoimmune disease with skin involvement' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease with skin involvement' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis 'autoimmune glomerulonephritis' SubClassOf 'glomerulonephritis' 'autoimmune glomerulonephritis' SubClassOf 'autoimmune disorder of urogenital tract' http://purl.obolibrary.org/obo/MONDO_0017635 parkinsonian syndrome due to neurodegenerative disease 'parkinsonian syndrome due to neurodegenerative disease' EquivalentTo 'parkinsonian disorder' and ('disease arises from feature' some 'neurodegenerative disease') 'parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0017641 miscellaneous movement disorder due to neurodegenerative disease 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'has modifier' some 'rare' 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0015081 neuroendocrine tumor with other location 'neuroendocrine tumor with other location' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0027751 serpinopathy with loss of serpin function 'serpinopathy with loss of serpin function' SubClassOf 'serpinopathy' http://purl.obolibrary.org/obo/HP_0002605 Hepatic necrosis 'Hepatic necrosis' SubClassOf 'Abnormality of the liver' http://www.ebi.ac.uk/efo/EFO_0020897 citrus intake measurement 'citrus intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020898 skeletal age 'skeletal age' SubClassOf 'radiologic finding' http://www.ebi.ac.uk/efo/EFO_0020899 filaggrin gene expression measurement 'filaggrin gene expression measurement' SubClassOf 'gene expression measurement' http://www.ebi.ac.uk/EFO/EFO_0020908 low density lipoprotein particle size change measurement 'low density lipoprotein particle size change measurement' SubClassOf 'low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020905 free cholesterol change measurement 'free cholesterol change measurement' SubClassOf 'free cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020904 esterified cholesterol change measurement 'esterified cholesterol change measurement' SubClassOf 'esterified cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020907 very low density lipoprotein particle size change measurement 'very low density lipoprotein particle size change measurement' SubClassOf 'very low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020906 intermediate density lipoprotein change measurement 'intermediate density lipoprotein change measurement' SubClassOf 'intermediate density lipoprotein measurement' http://www.ebi.ac.uk/EFO/EFO_0020901 chylomicron change measurement 'chylomicron change measurement' SubClassOf 'chylomicron measurement' http://www.ebi.ac.uk/EFO/EFO_0020903 phospholipid change measurement 'phospholipid change measurement' SubClassOf 'phospholipid measurement' http://www.ebi.ac.uk/efo/EFO_0020919 subacute myelo-opticoneuropathy 'subacute myelo-opticoneuropathy' SubClassOf 'nervous system disease' 'subacute myelo-opticoneuropathy' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0020915 uterine hyperstimulation 'uterine hyperstimulation' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_0020916 performance enhancing product use 'performance enhancing product use' SubClassOf 'drug misuse' http://www.ebi.ac.uk/efo/EFO_0020917 oculomucocutaneous syndrome 'oculomucocutaneous syndrome' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0020918 non-allergic anaphylaxis 'non-allergic anaphylaxis' SubClassOf 'anaphylaxis' 'non-allergic anaphylaxis' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0020911 overdose 'overdose' SubClassOf 'drug misuse' http://www.ebi.ac.uk/efo/EFO_0020912 decreased kidney function 'decreased kidney function' SubClassOf 'Abnormality of the kidney' http://www.ebi.ac.uk/efo/EFO_0020913 electrocardiogram repolarisation abnormality 'electrocardiogram repolarisation abnormality' SubClassOf 'Abnormal EKG' http://www.ebi.ac.uk/efo/EFO_0020914 disorientation 'disorientation' SubClassOf 'psychiatric disorder' http://www.ebi.ac.uk/efo/EFO_0020910 thermal burn 'thermal burn' SubClassOf 'burn' http://www.ebi.ac.uk/efo/EFO_0020909 impaired psychomotor skills 'impaired psychomotor skills' SubClassOf 'Poor motor coordination' http://www.ebi.ac.uk/efo/EFO_0020902 bombay phenotype 'bombay phenotype' SubClassOf 'blood group' http://www.ebi.ac.uk/efo/EFO_0020930 immune-mediated adverse reaction 'immune-mediated adverse reaction' SubClassOf 'adverse effect' http://www.ebi.ac.uk/efo/EFO_0020926 noninfective encephalitis 'noninfective encephalitis' SubClassOf 'encephalitis' 'noninfective encephalitis' SubClassOf 'infectious encephalitis' http://www.ebi.ac.uk/efo/EFO_0020927 skin reaction 'skin reaction' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0020928 occular toxicity 'occular toxicity' SubClassOf 'eye disease' 'occular toxicity' SubClassOf 'toxicity' http://www.ebi.ac.uk/efo/EFO_0020929 electrocardiogram PR prolongation 'electrocardiogram PR prolongation' SubClassOf 'PR interval' 'electrocardiogram PR prolongation' SubClassOf 'PR segment' http://www.ebi.ac.uk/efo/EFO_0020922 hospitalisation 'hospitalisation' SubClassOf 'treatment' http://www.ebi.ac.uk/efo/EFO_0020923 accidental overdose 'accidental overdose' SubClassOf 'overdose' http://www.ebi.ac.uk/efo/EFO_0020924 intentional overdose 'intentional overdose' SubClassOf 'overdose' http://www.ebi.ac.uk/efo/EFO_0020925 angina unstable 'angina unstable' SubClassOf 'Abnormality of the cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0020920 hepatic lesion 'hepatic lesion' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0020921 hemorrhagic stroke 'hemorrhagic stroke' SubClassOf 'stroke' http://purl.obolibrary.org/obo/HP_0032156 Skin detachment 'Skin detachment' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0007185 Loss of consciousness 'Loss of consciousness' SubClassOf 'Reduced consciousness/confusion' http://purl.obolibrary.org/obo/HP_0032310 Granulocytosis 'Granulocytosis' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0030157 Flank pain 'Flank pain' SubClassOf 'Constitutional symptom' http://www.ebi.ac.uk/efo/EFO_0030077 cell hashing 'cell hashing' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/OBI_0002584 differential expression analysis data 'differential expression analysis data' SubClassOf 'data set' http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis 'Metabolic acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0001913 Granulocytopenia 'Granulocytopenia' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0015346 Jeavons syndrome 'Jeavons syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/HP_0200119 Acute hepatitis 'Acute hepatitis' SubClassOf 'Hepatitis'