Ontology Diff Summary Diff date: 2025/12/09 11:50:05 First ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/last_version_4.7/ORDO_en_4.7.owl Second ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/last_version_4.8/ORDO_en_4.8.owl Number of classes changed: 458 Number of classes added: 257 Number of classes deleted: 9 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_90050 Label(s): Retinopathy of prematurity - 'Retinopathy of prematurity' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Retinopathy of prematurity' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_499821 Label(s): ATP binding cassette subfamily A member 7 - 'ATP binding cassette subfamily A member 7' SubClassOf 'has_chromosomal location' value "19p13.3" - 'ATP binding cassette subfamily A member 7' SubClassOf 'candidate gene tested in' some 'Early-onset autosomal dominant Alzheimer disease' - 'ATP binding cassette subfamily A member 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_88673 Label(s): Hepatocellular carcinoma + 'Hepatocellular carcinoma' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_90001 Label(s): X-linked cone dysfunction syndrome with myopia - 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_618899 Label(s): Acid sphingomyelinase deficiency - 'Acid sphingomyelinase deficiency' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_488197 Label(s): Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_120326 Label(s): titin + 'titin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_707983 Class: http://www.orpha.net/ORDO/Orphanet_201114 Label(s): MYD88 innate immune signal transduction adaptor + 'MYD88 innate immune signal transduction adaptor' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714046 Class: http://www.orpha.net/ORDO/Orphanet_293928 Label(s): sodium voltage-gated channel alpha subunit 8 - 'sodium voltage-gated channel alpha subunit 8' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Infantile convulsions and choreoathetosis' + 'sodium voltage-gated channel alpha subunit 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial infantile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_284460 Label(s): Acute annular outer retinopathy - 'Acute annular outer retinopathy' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Acute annular outer retinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_118549 Label(s): succinate dehydrogenase complex flavoprotein subunit A + 'succinate dehydrogenase complex flavoprotein subunit A' SubClassOf 'disease-causing germline mutation(s) in' some 'Carney-Stratakis syndrome' + 'succinate dehydrogenase complex flavoprotein subunit A' SubClassOf 'major susceptibility factor in' some 'Carney triad' Class: http://www.orpha.net/ORDO/Orphanet_521784 Label(s): DNA topoisomerase III alpha + 'DNA topoisomerase III alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' Class: http://www.orpha.net/ORDO/Orphanet_603694 Label(s): KLHL7-related Crisponi/cold-induced sweating-like syndrome - 'KLHL7-related Crisponi/cold-induced sweating-like syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'KLHL7-related Crisponi/cold-induced sweating-like syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2579 Label(s): Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - 'Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2574 Label(s): Moynahan syndrome - 'Moynahan syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Moynahan syndrome' SubClassOf 'disorder' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' - 'Moynahan syndrome' SubClassOf 'malformation syndrome' - 'Moynahan syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Moynahan syndrome' SubClassOf 'deprecated disorder' + 'Moynahan syndrome' SubClassOf 'Moved to' some 'Alopecia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98731 Label(s): Congenital arteriovenous fistula - 'Congenital arteriovenous fistula' SubClassOf 'group of disorders' - 'Congenital arteriovenous fistula' SubClassOf 'Simple vascular malformation' + 'Congenital arteriovenous fistula' SubClassOf 'Referred to' some 'Rare vascular anomaly' + 'Congenital arteriovenous fistula' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label(s): Microcephaly-lymphedema-chorioretinopathy syndrome - 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' - 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Microcephaly-lymphedema-chorioretinopathy syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_2518 Label(s): Autosomal recessive chorioretinopathy-microcephaly syndrome - 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_79093 Label(s): Foix-Alajouanine syndrome - 'Foix-Alajouanine syndrome' SubClassOf 'disorder' - 'Foix-Alajouanine syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' - 'Foix-Alajouanine syndrome' SubClassOf 'malformation syndrome' - 'Foix-Alajouanine syndrome' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Foix-Alajouanine syndrome' SubClassOf 'obsolete disorder' + 'Foix-Alajouanine syndrome' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_715025 Class: http://www.orpha.net/ORDO/Orphanet_79651 Label(s): Mild hyperphenylalaninemia - 'Mild hyperphenylalaninemia' SubClassOf 'part_of' some 'Phenylketonuria' + 'Mild hyperphenylalaninemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_708881 Class: http://www.orpha.net/ORDO/Orphanet_411527 Label(s): Central retinal vein occlusion - 'Central retinal vein occlusion' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Central retinal vein occlusion' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_423479 Label(s): X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - 'X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_332055 Label(s): piezo type mechanosensitive ion channel component 2 + 'piezo type mechanosensitive ion channel component 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_707937 Class: http://www.orpha.net/ORDO/Orphanet_556135 Label(s): RELT TNF receptor - 'RELT TNF receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hypoplastic amelogenesis imperfecta' + 'RELT TNF receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hypocalcified amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_397758 Label(s): Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_294016 Label(s): Microcephaly-capillary malformation syndrome + 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_597201 Label(s): TRIM22-related inflammatory bowel disease - 'TRIM22-related inflammatory bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'TRIM22-related inflammatory bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_268049 Label(s): mucin 5B, oligomeric mucus/gel-forming - 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'major susceptibility factor in' some 'Hypersensitivity pneumonitis' + 'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'major susceptibility factor in' some 'Fibrotic hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_120204 Label(s): tumor protein p53 + 'tumor protein p53' SubClassOf 'major susceptibility factor in' some 'Breast implant-associated anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_529980 Label(s): Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - 'Inflammatory bowel disease-recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'Inflammatory bowel disease-recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Inflammatory bowel disease-recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_529977 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_529974 Label(s): Immune dysregulation with inflammatory bowel disease - 'Immune dysregulation with inflammatory bowel disease' SubClassOf 'Genetic intestinal disease' - 'Immune dysregulation with inflammatory bowel disease' SubClassOf 'Rare inflammatory bowel disease' - 'Immune dysregulation with inflammatory bowel disease' SubClassOf 'Immune dysregulation disease with immunodeficiency' - 'Immune dysregulation with inflammatory bowel disease' SubClassOf 'group of disorders' + 'Immune dysregulation with inflammatory bowel disease' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_296684 Label(s): DnaJ heat shock protein family (Hsp40) member B6 + 'DnaJ heat shock protein family (Hsp40) member B6' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708126 Class: http://www.orpha.net/ORDO/Orphanet_70567 Label(s): Cholangiocarcinoma + 'Cholangiocarcinoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_529852 Label(s): Combined hepatocellular carcinoma and cholangiocarcinoma + 'Combined hepatocellular carcinoma and cholangiocarcinoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_41751 Label(s): Bietti crystalline dystrophy - 'Bietti crystalline dystrophy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' - 'Bietti crystalline dystrophy' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Bietti crystalline dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Bietti crystalline dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Bietti crystalline dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 + 'Bietti crystalline dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 Class: http://www.orpha.net/ORDO/Orphanet_117964 Label(s): peroxisome proliferator activated receptor gamma - 'peroxisome proliferator activated receptor gamma' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120020 Label(s): TEK receptor tyrosine kinase + 'TEK receptor tyrosine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714806 Class: http://www.orpha.net/ORDO/Orphanet_1433 Label(s): Choroidal atrophy-alopecia syndrome - 'Choroidal atrophy-alopecia syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' + 'Choroidal atrophy-alopecia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716299 Class: http://www.orpha.net/ORDO/Orphanet_101039 Label(s): Female restricted epilepsy with intellectual disability - 'Female restricted epilepsy with intellectual disability' SubClassOf 'disease' - 'Female restricted epilepsy with intellectual disability' SubClassOf 'part_of' some 'X-linked intellectual disability-epilepsy syndrome' - 'Female restricted epilepsy with intellectual disability' SubClassOf 'disorder' + 'Female restricted epilepsy with intellectual disability' SubClassOf 'deprecated disorder' + 'Female restricted epilepsy with intellectual disability' SubClassOf 'Moved to' some http://www.orpha.net/ORDO/Orphanet_714652 Class: http://www.orpha.net/ORDO/Orphanet_2965 Label(s): Prolactinoma + 'Prolactinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_2451 Label(s): Mucocutaneous venous malformations - 'Mucocutaneous venous malformations' SubClassOf 'part_of' some 'Rare venous malformation' + 'Mucocutaneous venous malformations' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715339 Class: http://www.orpha.net/ORDO/Orphanet_519325 Label(s): Syndromic inherited retinal disorder - 'Syndromic inherited retinal disorder' SubClassOf 'group of disorders' - 'Syndromic inherited retinal disorder' SubClassOf 'Inherited retinal disorder' + 'Syndromic inherited retinal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_3132 Label(s): Say-Barber-Miller syndrome - 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Say-Barber-Miller syndrome' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_159752 Label(s): LDL receptor related protein 6 + 'LDL receptor related protein 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant hypohidrotic ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_464453 Label(s): Acquired methemoglobinemia - 'Acquired methemoglobinemia' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Acquired methemoglobinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_707993 Class: http://www.orpha.net/ORDO/Orphanet_688523 Label(s): Splenic venous malformation - 'Splenic venous malformation' SubClassOf 'part_of' some 'Rare venous malformation' + 'Splenic venous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715334 Class: http://www.orpha.net/ORDO/Orphanet_118554 Label(s): succinate dehydrogenase complex iron sulfur subunit B + 'succinate dehydrogenase complex iron sulfur subunit B' SubClassOf 'major susceptibility factor in' some 'Carney triad' Class: http://www.orpha.net/ORDO/Orphanet_2031 Label(s): Hepatic fibrosis-renal cysts-intellectual disability syndrome - 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' - 'Hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_572317 Label(s): proline and glutamate rich with coiled coil 1 - 'proline and glutamate rich with coiled coil 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital tufting enteropathy' + 'proline and glutamate rich with coiled coil 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714490 Class: http://www.orpha.net/ORDO/Orphanet_284247 Label(s): Familial retinal arterial macroaneurysm - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717339 + 'Familial retinal arterial macroaneurysm' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_586454 Label(s): mediator complex subunit 12L - 'mediator complex subunit 12L' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'mediator complex subunit 12L' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_178333 Label(s): Åland Islands eye disease - 'Åland Islands eye disease' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Åland Islands eye disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 + 'Åland Islands eye disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 + 'Åland Islands eye disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717330 Class: http://www.orpha.net/ORDO/Orphanet_601728 Label(s): phosphodiesterase 2A - 'phosphodiesterase 2A' SubClassOf 'has_chromosomal location' value "11q13.4" - 'phosphodiesterase 2A' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' - 'phosphodiesterase 2A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_522584 Label(s): Rare genetic choroidal disorder - 'Rare genetic choroidal disorder' SubClassOf 'group of disorders' - 'Rare genetic choroidal disorder' SubClassOf 'Rare genetic disorder of the posterior segment of the eye' + 'Rare genetic choroidal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_325022 Label(s): ninein + 'ninein' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52427 Label(s): Retinitis punctata albescens - 'Retinitis punctata albescens' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Retinitis punctata albescens' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Retinitis punctata albescens' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_2377 Label(s): Laurence-Moon syndrome - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Laurence-Moon syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_191 Label(s): Cockayne syndrome - 'Cockayne syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Cockayne syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2330 Label(s): Kasabach-Merritt phenomenon + 'Kasabach-Merritt phenomenon' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717582 Class: http://www.orpha.net/ORDO/Orphanet_596998 Label(s): C-terminal binding protein 1 + 'C-terminal binding protein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714399 Class: http://www.orpha.net/ORDO/Orphanet_284385 Label(s): Familial intrahepatic cholestasis - 'Familial intrahepatic cholestasis' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_653709 Label(s): Cone rod dystrophy-short stature syndrome - 'Cone rod dystrophy-short stature syndrome' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Cone rod dystrophy-short stature syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_75858 Label(s): MORM syndrome - 'MORM syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'MORM syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_464318 Label(s): Verrucous hemangioma - 'Verrucous hemangioma' SubClassOf 'part_of' some 'Rare capillary malformation' + 'Verrucous hemangioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715334 + 'Verrucous hemangioma' SubClassOf 'part_of' some 'Rare combined vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_493689 Label(s): mitochondrial trans-2-enoyl-CoA reductase + 'mitochondrial trans-2-enoyl-CoA reductase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive isolated optic atrophy' Class: http://www.orpha.net/ORDO/Orphanet_899 Label(s): Walker-Warburg syndrome - 'Walker-Warburg syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Walker-Warburg syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_898 Label(s): Wagner disease - 'Wagner disease' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' + 'Wagner disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 Class: http://www.orpha.net/ORDO/Orphanet_891 Label(s): Familial exudative vitreoretinopathy - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' - 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 + 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717345 + 'Familial exudative vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716466 Class: http://www.orpha.net/ORDO/Orphanet_886 Label(s): Usher syndrome - 'Usher syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Usher syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_122684 Label(s): interferon regulatory factor 6 + 'interferon regulatory factor 6' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708014 Class: http://www.orpha.net/ORDO/Orphanet_364789 Label(s): Fos proto-oncogene, AP-1 transcription factor subunit - 'Fos proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_848 Label(s): Beta-thalassemia - 'Beta-thalassemia' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Beta-thalassemia' SubClassOf 'disease' - 'Beta-thalassemia' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to storage disease' - 'Beta-thalassemia' SubClassOf 'disorder' - 'Beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia and related diseases' + 'Beta-thalassemia' SubClassOf 'group of disorders' + 'Beta-thalassemia' SubClassOf 'Pituitary hormone deficiency secondary to storage disease' + 'Beta-thalassemia' SubClassOf 'Hematological disorder with renal involvement' + 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_845 Label(s): Tay-Sachs disease - 'Tay-Sachs disease' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Tay-Sachs disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_838 Label(s): Susac syndrome - 'Susac syndrome' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Susac syndrome' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Susac syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_828 Label(s): Stickler syndrome - 'Stickler syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Stickler syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Stickler syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_827 Label(s): Stargardt disease - 'Stargardt disease' SubClassOf 'part_of' some 'Isolated macular dystrophy' - 'Stargardt disease' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Stargardt disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 + 'Stargardt disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Stargardt disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Stargardt disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_322104 Label(s): leucine rich repeat, Ig-like and transmembrane domains 3 - 'leucine rich repeat, Ig-like and transmembrane domains 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'leucine rich repeat, Ig-like and transmembrane domains 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714079 Class: http://www.orpha.net/ORDO/Orphanet_816 Label(s): Sjögren-Larsson syndrome - 'Sjögren-Larsson syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Sjögren-Larsson syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_141168 Label(s): Frontonasal arteriovenous malformation - 'Frontonasal arteriovenous malformation' SubClassOf 'disorder' - 'Frontonasal arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Frontonasal arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' + 'Frontonasal arteriovenous malformation' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_707944 + 'Frontonasal arteriovenous malformation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label(s): BRCA1 DNA repair associated + 'BRCA1 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Breast implant-associated anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_100974 Label(s): FRAXF syndrome - 'FRAXF syndrome' SubClassOf 'part_of' some 'Rare genetic disease' + 'FRAXF syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217008 Label(s): Bockenheimer syndrome - 'Bockenheimer syndrome' SubClassOf 'part_of' some 'Rare venous malformation' + 'Bockenheimer syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715334 Class: http://www.orpha.net/ORDO/Orphanet_85450 Label(s): Hereditary amyloidosis with primary renal involvement + 'Hereditary amyloidosis with primary renal involvement' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_85443 Label(s): AL amyloidosis + 'AL amyloidosis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_100996 Label(s): Autosomal recessive spastic paraplegia type 15 + 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_2246 Label(s): Cerebellar hypoplasia-tapetoretinal degeneration syndrome - 'Cerebellar hypoplasia-tapetoretinal degeneration syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Cerebellar hypoplasia-tapetoretinal degeneration syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2235 Label(s): Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - 'Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_63454 Label(s): Pattern dystrophy - 'Pattern dystrophy' SubClassOf 'Isolated macular dystrophy' + 'Pattern dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_716432 + 'Pattern dystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_717336 Class: http://www.orpha.net/ORDO/Orphanet_422989 Label(s): DEAF1 transcription factor - 'DEAF1 transcription factor' SubClassOf 'candidate gene tested in' some 'Smith-Magenis syndrome' - 'DEAF1 transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'DEAF1 transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714385 Class: http://www.orpha.net/ORDO/Orphanet_791 Label(s): Retinitis pigmentosa - 'Retinitis pigmentosa' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Retinitis pigmentosa' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 + 'Retinitis pigmentosa' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_209943 Label(s): IRVAN syndrome - 'IRVAN syndrome' SubClassOf 'part_of' some 'Rare retinal vasculopathy' - 'IRVAN syndrome' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' + 'IRVAN syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_774 Label(s): Hereditary hemorrhagic telangiectasia - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Rare capillary malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Rare arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_773 Label(s): Refsum disease - 'Refsum disease' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Refsum disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_603684 Label(s): KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - 'KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_758 Label(s): Pseudoxanthoma elasticum - 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Pseudoxanthoma elasticum' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_733 Label(s): Familial adenomatous polyposis + 'Familial adenomatous polyposis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716393 Class: http://www.orpha.net/ORDO/Orphanet_163634 Label(s): Maffucci syndrome - 'Maffucci syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' + 'Maffucci syndrome' SubClassOf 'part_of' some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_716 Label(s): Phenylketonuria - 'Phenylketonuria' SubClassOf 'part_of' some 'Disorder of phenylalanine metabolism' + 'Phenylketonuria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_708881 Class: http://www.orpha.net/ORDO/Orphanet_53719 Label(s): Cerebrofacial arteriovenous metameric syndrome type 2 - 'Cerebrofacial arteriovenous metameric syndrome type 2' SubClassOf 'part_of' some 'Skin vascular disease' - 'Cerebrofacial arteriovenous metameric syndrome type 2' SubClassOf 'subtype of a disorder' - 'Cerebrofacial arteriovenous metameric syndrome type 2' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 2' SubClassOf 'obsolete subtype of disorder' + 'Cerebrofacial arteriovenous metameric syndrome type 2' SubClassOf 'Referred to' some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_471032 Label(s): sodium voltage-gated channel alpha subunit 3 + 'sodium voltage-gated channel alpha subunit 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial focal epilepsy with variable foci' Class: http://www.orpha.net/ORDO/Orphanet_137667 Label(s): Capillary malformation-arteriovenous malformation - 'Capillary malformation-arteriovenous malformation' SubClassOf 'Rare capillary malformation' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'Rare arteriovenous malformation' + 'Capillary malformation-arteriovenous malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_715466 Class: http://www.orpha.net/ORDO/Orphanet_2196 Label(s): Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' - 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some 'Syndromic macular dystrophy' + 'Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_85332 Label(s): X-linked intellectual disability-retinitis pigmentosa syndrome - 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_565788 Label(s): Infantile inflammatory bowel disease with neurological involvement - 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2133 Label(s): Hemoglobin E disease - 'Hemoglobin E disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobin E disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' + 'Hemoglobin E disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_707786 Class: http://www.orpha.net/ORDO/Orphanet_31709 Label(s): Infantile convulsions and choreoathetosis - 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' - 'Infantile convulsions and choreoathetosis' SubClassOf 'disease' - 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Infantile convulsions and choreoathetosis' SubClassOf 'disorder' - 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Benign partial infantile seizures' + 'Infantile convulsions and choreoathetosis' SubClassOf 'Moved to' some 'Self-limited infantile epilepsy' + 'Infantile convulsions and choreoathetosis' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_674930 Label(s): Perifoveal exudative vascular anomalous complex - 'Perifoveal exudative vascular anomalous complex' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Perifoveal exudative vascular anomalous complex' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_676125 Label(s): X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_211266 Label(s): Rare arteriovenous malformation - 'Rare arteriovenous malformation' SubClassOf 'Simple vascular malformation' + 'Rare arteriovenous malformation' SubClassOf 'Rare vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_211255 Label(s): Rare lymphatic system anomaly - 'Rare lymphatic system anomaly' SubClassOf 'Simple vascular malformation' + 'Rare lymphatic system anomaly' SubClassOf 'Rare vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_211252 Label(s): Rare venous malformation - 'Rare venous malformation' SubClassOf 'Simple vascular malformation' + 'Rare venous malformation' SubClassOf 'Rare vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_692271 Label(s): Cerebral proliferative angiopathy - 'Cerebral proliferative angiopathy' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Cerebral proliferative angiopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715750 Class: http://www.orpha.net/ORDO/Orphanet_697356 Label(s): Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome - 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic nail anomaly' - 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Other epidermal disorder' + 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare developmental defect with skin/mucosae involvement' + 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_209867 Label(s): Autosomal dominant rhegmatogenous retinal detachment - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'part_of' some 'Rare retinal disorder' - 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'part_of' some 'Rare genetic retinal disorder' + 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 Class: http://www.orpha.net/ORDO/Orphanet_179 Label(s): Birdshot chorioretinopathy + 'Birdshot chorioretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716195 Class: http://www.orpha.net/ORDO/Orphanet_279771 Label(s): kinesin family member 1A - 'kinesin family member 1A' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_53689 Label(s): Congenital chloride diarrhea + 'Congenital chloride diarrhea' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_163596 Label(s): Hb Bart's hydrops fetalis - 'Hb Bart's hydrops fetalis' SubClassOf 'subtype of a disorder' + 'Hb Bart's hydrops fetalis' SubClassOf 'disorder' + 'Hb Bart's hydrops fetalis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159521 Label(s): major facilitator superfamily domain containing 8 + 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Cone rod dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_649 Label(s): Norrie disease - 'Norrie disease' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Norrie disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 + 'Norrie disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_238613 Label(s): Beckwith-Wiedemann syndrome due to NSD1 mutation - 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'subtype of a disorder' - 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'part_of' some 'Beckwith-Wiedemann syndrome' + 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'obsolete subtype of disorder' + 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Referred to' some 'Sotos syndrome' Class: http://www.orpha.net/ORDO/Orphanet_644 Label(s): NARP syndrome - 'NARP syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'NARP syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_621 Label(s): Hereditary methemoglobinemia - 'Hereditary methemoglobinemia' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' - 'Hereditary methemoglobinemia' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Hereditary methemoglobinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_707993 + 'Hereditary methemoglobinemia' SubClassOf 'part_of' some 'Rare genetic hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_209932 Label(s): Cone dystrophy with supernormal rod response - 'Cone dystrophy with supernormal rod response' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Cone dystrophy with supernormal rod response' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Cone dystrophy with supernormal rod response' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_313800 Label(s): Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - 'Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_391673 Label(s): Necrotizing enterocolitis - 'Necrotizing enterocolitis' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'Necrotizing enterocolitis' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_209956 Label(s): Idiopathic uveal effusion syndrome - 'Idiopathic uveal effusion syndrome' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Idiopathic uveal effusion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716213 Class: http://www.orpha.net/ORDO/Orphanet_466718 Label(s): Martinique crinkled retinal pigment epitheliopathy - 'Martinique crinkled retinal pigment epitheliopathy' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Martinique crinkled retinal pigment epitheliopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Martinique crinkled retinal pigment epitheliopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_353351 Label(s): Idiopathic macular telangiectasia type 3 - 'Idiopathic macular telangiectasia type 3' SubClassOf 'part_of' some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_166308 Label(s): Benign infantile focal epilepsy with midline spikes and waves during sleep - 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'part_of' some 'Benign partial infantile seizures' + 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'part_of' some 'Neonatal-infantile onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353344 Label(s): Idiopathic macular telangiectasia type 1 - 'Idiopathic macular telangiectasia type 1' SubClassOf 'part_of' some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_1897 Label(s): EEM syndrome - 'EEM syndrome' SubClassOf 'part_of' some 'Syndromic macular dystrophy' + 'EEM syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_353334 Label(s): Congenital retinal arteriovenous communication - 'Congenital retinal arteriovenous communication' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Congenital retinal arteriovenous communication' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Congenital retinal arteriovenous communication' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_1884 Label(s): Ectopia lentis-chorioretinal dystrophy-myopia syndrome - 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716299 Class: http://www.orpha.net/ORDO/Orphanet_1873 Label(s): Jalili syndrome - 'Jalili syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Jalili syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1872 Label(s): Cone rod dystrophy - 'Cone rod dystrophy' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Cone rod dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Cone rod dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_1871 Label(s): Progressive cone dystrophy - 'Progressive cone dystrophy' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Progressive cone dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Progressive cone dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_168984 Label(s): CLAPO syndrome - 'CLAPO syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' + 'CLAPO syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715460 Class: http://www.orpha.net/ORDO/Orphanet_1852 Label(s): X-linked retinal dysplasia - 'X-linked retinal dysplasia' SubClassOf 'part_of' some 'Rare retinal disorder' - 'X-linked retinal dysplasia' SubClassOf 'part_of' some 'Rare genetic retinal disorder' - 'X-linked retinal dysplasia' SubClassOf 'disorder' - 'X-linked retinal dysplasia' SubClassOf 'disease' + 'X-linked retinal dysplasia' SubClassOf 'obsolete disorder' + 'X-linked retinal dysplasia' SubClassOf 'Referred to' some 'Norrie disease' Class: http://www.orpha.net/ORDO/Orphanet_444717 Label(s): NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase + 'NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159192 Label(s): actinin alpha 2 + 'actinin alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708133 + 'actinin alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708129 Class: http://www.orpha.net/ORDO/Orphanet_92050 Label(s): Congenital tufting enteropathy + 'Congenital tufting enteropathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717865 Class: http://www.orpha.net/ORDO/Orphanet_46724 Label(s): Cerebral arteriovenous malformation - 'Cerebral arteriovenous malformation' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Cerebral arteriovenous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715750 Class: http://www.orpha.net/ORDO/Orphanet_75508 Label(s): Angioosteohypotrophic syndrome - 'Angioosteohypotrophic syndrome' SubClassOf 'disorder' - 'Angioosteohypotrophic syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Angioosteohypotrophic syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' - 'Angioosteohypotrophic syndrome' SubClassOf 'malformation syndrome' + 'Angioosteohypotrophic syndrome' SubClassOf 'Moved to' some 'Bockenheimer syndrome' + 'Angioosteohypotrophic syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_575553 Label(s): Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_238569 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_293311 Label(s): cyclin dependent kinase inhibitor 2C - 'cyclin dependent kinase inhibitor 2C' SubClassOf 'gene with protein product' - 'cyclin dependent kinase inhibitor 2C' SubClassOf 'candidate gene tested in' some 'Multiple endocrine neoplasia type 1' - 'cyclin dependent kinase inhibitor 2C' SubClassOf 'has_chromosomal location' value "1p32.3" Class: http://www.orpha.net/ORDO/Orphanet_578 Label(s): Mucolipidosis type IV - 'Mucolipidosis type IV' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Mucolipidosis type IV' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_122376 Label(s): hemoglobin subunit beta - 'hemoglobin subunit beta' SubClassOf 'part of a fusion gene in' some 'Hemoglobin Lepore-beta-thalassemia syndrome' + 'hemoglobin subunit beta' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_715135 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715125 + 'hemoglobin subunit beta' SubClassOf 'part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_715140 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715128 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715143 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715157 Class: http://www.orpha.net/ORDO/Orphanet_122374 Label(s): hemoglobin subunit alpha 2 + 'hemoglobin subunit alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_707789 + 'hemoglobin subunit alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715154 + 'hemoglobin subunit alpha 2' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_715143 Class: http://www.orpha.net/ORDO/Orphanet_85194 Label(s): Spondylo-ocular syndrome - 'Spondylo-ocular syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Spondylo-ocular syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_482092 Label(s): Rare idiopathic macular telangiectasia - 'Rare idiopathic macular telangiectasia' SubClassOf 'Rare retinal vasculopathy' + 'Rare idiopathic macular telangiectasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_716466 + 'Rare idiopathic macular telangiectasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_85167 Label(s): Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - 'Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_59181 Label(s): Sorsby pseudoinflammatory fundus dystrophy - 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' - 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Sorsby pseudoinflammatory fundus dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_85128 Label(s): Bothnia retinal dystrophy - 'Bothnia retinal dystrophy' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Bothnia retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Bothnia retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 + 'Bothnia retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 + 'Bothnia retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 Class: http://www.orpha.net/ORDO/Orphanet_327288 Label(s): WD repeat domain 81 + 'WD repeat domain 81' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital communicating hydrocephalus' + 'WD repeat domain 81' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital non-communicating hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_293293 Label(s): cyclin dependent kinase inhibitor 1A - 'cyclin dependent kinase inhibitor 1A' SubClassOf 'candidate gene tested in' some 'Multiple endocrine neoplasia type 1' - 'cyclin dependent kinase inhibitor 1A' SubClassOf 'has_chromosomal location' value "6p21.2" - 'cyclin dependent kinase inhibitor 1A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_314777 Label(s): Familial isolated pituitary adenoma + 'Familial isolated pituitary adenoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_331244 Label(s): Other immunodeficiency syndrome with predominantly antibody defects - 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'Immunodeficiency predominantly affecting antibody production' - 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'group of disorders' + 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'obsolete group of disorder' + 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'Referred to' some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_79254 Label(s): Classic phenylketonuria - 'Classic phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' - 'Classic phenylketonuria' SubClassOf 'subtype of a disorder' + 'Classic phenylketonuria' SubClassOf 'deprecated subtype of disorder' + 'Classic phenylketonuria' SubClassOf 'Moved to' some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_122291 Label(s): glutamate metabotropic receptor 6 - 'glutamate metabotropic receptor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'glutamate metabotropic receptor 6' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714079 Class: http://www.orpha.net/ORDO/Orphanet_480 Label(s): Kearns-Sayre syndrome - 'Kearns-Sayre syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Kearns-Sayre syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_122286 Label(s): G protein-coupled receptor kinase 1 - 'G protein-coupled receptor kinase 1' SubClassOf 'candidate gene tested in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_464 Label(s): Incontinentia pigmenti - 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Incontinentia pigmenti' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Incontinentia pigmenti' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_449 Label(s): Hepatoblastoma + 'Hepatoblastoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_79282 Label(s): Methylmalonic acidemia with homocystinuria, type cblC - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_416 Label(s): Primary hyperoxaluria + 'Primary hyperoxaluria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_122202 Label(s): G protein subunit alpha transducin 1 - 'G protein subunit alpha transducin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'G protein subunit alpha transducin 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714096 Class: http://www.orpha.net/ORDO/Orphanet_97341 Label(s): Persistent placoid maculopathy - 'Persistent placoid maculopathy' SubClassOf 'part_of' some 'Rare genetic macular disorder' - 'Persistent placoid maculopathy' SubClassOf 'part_of' some 'Rare macular disorder' + 'Persistent placoid maculopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_220493 Label(s): Joubert syndrome with ocular defect - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_91348 Label(s): Functioning gonadotropic adenoma + 'Functioning gonadotropic adenoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_520817 Label(s): Isolated inherited retinal disorder - 'Isolated inherited retinal disorder' SubClassOf 'Inherited retinal disorder' - 'Isolated inherited retinal disorder' SubClassOf 'group of disorders' + 'Isolated inherited retinal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_165958 Label(s): Cavitary myiasis + 'Cavitary myiasis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 Class: http://www.orpha.net/ORDO/Orphanet_75381 Label(s): Cystoid macular dystrophy - 'Cystoid macular dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'Cystoid macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Cystoid macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 Class: http://www.orpha.net/ORDO/Orphanet_75374 Label(s): Bradyopsia - 'Bradyopsia' SubClassOf 'part_of' some 'Rare retinal disorder' - 'Bradyopsia' SubClassOf 'part_of' some 'Rare genetic retinal disorder' + 'Bradyopsia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_75373 Label(s): Progressive bifocal chorioretinal atrophy - 'Progressive bifocal chorioretinal atrophy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 + 'Progressive bifocal chorioretinal atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 Class: http://www.orpha.net/ORDO/Orphanet_166311 Label(s): Benign partial infantile seizures - 'Benign partial infantile seizures' SubClassOf 'group of disorders' - 'Benign partial infantile seizures' SubClassOf 'Neonatal-infantile onset epilepsy syndrome' + 'Benign partial infantile seizures' SubClassOf 'Moved to' some 'Self-limited infantile epilepsy' + 'Benign partial infantile seizures' SubClassOf 'deprecated group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_414 Label(s): Gyrate atrophy of choroid and retina + 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 + 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 Class: http://www.orpha.net/ORDO/Orphanet_46532 Label(s): Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - 'Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf 'part_of' some 'Beta-thalassemia and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_75327 Label(s): North Carolina macular dystrophy - 'North Carolina macular dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'North Carolina macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 + 'North Carolina macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716296 + 'North Carolina macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717330 + 'North Carolina macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717311 Class: http://www.orpha.net/ORDO/Orphanet_199244 Label(s): Nelson syndrome + 'Nelson syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_379 Label(s): Chronic granulomatous disease - 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_377 Label(s): Gorlin syndrome + 'Gorlin syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_91494 Label(s): Macular coloboma-cleft palate-hallux valgus syndrome - 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'part_of' some 'Syndromic macular dystrophy' + 'Macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_351 Label(s): Galactosialidosis - 'Galactosialidosis' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Galactosialidosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_333 Label(s): Farber disease - 'Farber disease' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Farber disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_280615 Label(s): Hemoglobinopathy Toms River - 'Hemoglobinopathy Toms River' SubClassOf 'disorder' - 'Hemoglobinopathy Toms River' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Hemoglobinopathy Toms River' SubClassOf 'disease' - 'Hemoglobinopathy Toms River' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' + 'Hemoglobinopathy Toms River' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715147 + 'Hemoglobinopathy Toms River' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_60015 Label(s): Enlarged parietal foramina - 'Enlarged parietal foramina' SubClassOf 'part_of' some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_166035 Label(s): Brachydactyly-short stature-retinitis pigmentosa syndrome - 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Brachydactyly-short stature-retinitis pigmentosa syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_535893 Label(s): cytochrome P450 family 2 subfamily A member 6 - 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'has_chromosomal location' value "19q13.2" - 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'biomarker tested in' some 'Letrozole toxicity' - 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_589442 Label(s): Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2038 Label(s): Pulmonary arteriovenous malformation - 'Pulmonary arteriovenous malformation' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Pulmonary arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_2039 Label(s): Congenital systemic arteriovenous fistula - 'Congenital systemic arteriovenous fistula' SubClassOf 'Morphological anomaly' - 'Congenital systemic arteriovenous fistula' SubClassOf 'disorder' - 'Congenital systemic arteriovenous fistula' SubClassOf 'part_of' some 'Congenital arteriovenous fistula' + 'Congenital systemic arteriovenous fistula' SubClassOf 'obsolete disorder' + 'Congenital systemic arteriovenous fistula' SubClassOf 'Referred to' some 'Rare vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1574 Label(s): Retinal degeneration-nanophthalmos-glaucoma syndrome - 'Retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1573 Label(s): Hypotrichosis with juvenile macular degeneration - 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_1571 Label(s): Knobloch syndrome - 'Knobloch syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Knobloch syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Knobloch syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 + 'Knobloch syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_91496 Label(s): Snowflake vitreoretinal degeneration - 'Snowflake vitreoretinal degeneration' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' - 'Snowflake vitreoretinal degeneration' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Snowflake vitreoretinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 Class: http://www.orpha.net/ORDO/Orphanet_99725 Label(s): Pituitary gigantism + 'Pituitary gigantism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated + 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Breast implant-associated anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_314572 Label(s): Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - 'Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_49382 Label(s): Achromatopsia - 'Achromatopsia' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Achromatopsia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_580951 Label(s): Punctate inner choroidopathy - 'Punctate inner choroidopathy' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Punctate inner choroidopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716195 Class: http://www.orpha.net/ORDO/Orphanet_75376 Label(s): Familial drusen - 'Familial drusen' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Familial drusen' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Familial drusen' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714737 Class: http://www.orpha.net/ORDO/Orphanet_216 Label(s): Neuronal ceroid lipofuscinosis + 'Neuronal ceroid lipofuscinosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_215 Label(s): Congenital stationary night blindness - 'Congenital stationary night blindness' SubClassOf 'disease' - 'Congenital stationary night blindness' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' - 'Congenital stationary night blindness' SubClassOf 'disorder' + 'Congenital stationary night blindness' SubClassOf 'group of disorders' + 'Congenital stationary night blindness' SubClassOf http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_271861 Label(s): Hereditary ATTR amyloidosis + 'Hereditary ATTR amyloidosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_121850 Label(s): FLII actin remodeling protein - 'FLII actin remodeling protein' SubClassOf 'has_chromosomal location' value "17p11.2" - 'FLII actin remodeling protein' SubClassOf 'candidate gene tested in' some 'Smith-Magenis syndrome' - 'FLII actin remodeling protein' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_100085 Label(s): Primary hepatic neuroendocrine carcinoma + 'Primary hepatic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_141174 Label(s): Mandibular arteriovenous malformation - 'Mandibular arteriovenous malformation' SubClassOf 'disorder' - 'Mandibular arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' - 'Mandibular arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Mandibular arteriovenous malformation' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_707944 + 'Mandibular arteriovenous malformation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_141171 Label(s): Maxillary arteriovenous malformation - 'Maxillary arteriovenous malformation' SubClassOf 'part_of' some 'Facial arteriovenous malformation' - 'Maxillary arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Maxillary arteriovenous malformation' SubClassOf 'disorder' + 'Maxillary arteriovenous malformation' SubClassOf 'obsolete disorder' + 'Maxillary arteriovenous malformation' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_707944 Class: http://www.orpha.net/ORDO/Orphanet_477661 Label(s): IL21-related infantile inflammatory bowel disease - 'IL21-related infantile inflammatory bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'IL21-related infantile inflammatory bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_60040 Label(s): Megalencephaly-capillary malformation-polymicrogyria syndrome + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715453 Class: http://www.orpha.net/ORDO/Orphanet_1471 Label(s): Coloboma of macula-brachydactyly type B syndrome - 'Coloboma of macula-brachydactyly type B syndrome' SubClassOf 'part_of' some 'Syndromic macular dystrophy' + 'Coloboma of macula-brachydactyly type B syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716422 Class: http://www.orpha.net/ORDO/Orphanet_140976 Label(s): RHYNS syndrome - 'RHYNS syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'RHYNS syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_247691 Label(s): Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_140969 Label(s): Saldino-Mainzer syndrome - 'Saldino-Mainzer syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Saldino-Mainzer syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1435 Label(s): Xq21 microdeletion syndrome - 'Xq21 microdeletion syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' + 'Xq21 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_140944 Label(s): CLOVES syndrome - 'CLOVES syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' + 'CLOVES syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715460 + 'CLOVES syndrome' SubClassOf 'part_of' some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_168549 Label(s): Axial spondylometaphyseal dysplasia - 'Axial spondylometaphyseal dysplasia' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Axial spondylometaphyseal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1415 Label(s): Hardikar syndrome - 'Hardikar syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Hardikar syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_352718 Label(s): Progressive retinal dystrophy due to retinol transport defect - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_91495 Label(s): Persistent hyperplastic primary vitreous - 'Persistent hyperplastic primary vitreous' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' + 'Persistent hyperplastic primary vitreous' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716435 Class: http://www.orpha.net/ORDO/Orphanet_488239 Label(s): Acute macular neuroretinopathy - 'Acute macular neuroretinopathy' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Acute macular neuroretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 Class: http://www.orpha.net/ORDO/Orphanet_353327 Label(s): Congenital myasthenic syndromes with glycosylation defect - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_716913 Class: http://www.orpha.net/ORDO/Orphanet_422348 Label(s): protein kinase D1 + 'protein kinase D1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708019 Class: http://www.orpha.net/ORDO/Orphanet_193 Label(s): Cohen syndrome - 'Cohen syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Cohen syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_190 Label(s): Coats disease - 'Coats disease' SubClassOf 'part_of' some 'Rare retinal vasculopathy' - 'Coats disease' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Coats disease' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' + 'Coats disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Coats disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_180 Label(s): Choroideremia - 'Choroideremia' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Choroideremia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 + 'Choroideremia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 Class: http://www.orpha.net/ORDO/Orphanet_172 Label(s): Progressive familial intrahepatic cholestasis + 'Progressive familial intrahepatic cholestasis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_294023 Label(s): Neonatal inflammatory skin and bowel disease - 'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_353372 Label(s): DEP domain containing 5, GATOR1 subcomplex subunit - 'DEP domain containing 5, GATOR1 subcomplex subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Epilepsy with auditory features' + 'DEP domain containing 5, GATOR1 subcomplex subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_136 Label(s): Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 + 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_40923 Label(s): Eales disease - 'Eales disease' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Eales disease' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Eales disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_163631 Label(s): Bile acid synthesis defect with cholestasis and malabsorption + 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_116 Label(s): Beckwith-Wiedemann syndrome - 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_110 Label(s): Bardet-Biedl syndrome - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Bardet-Biedl syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_500722 Label(s): transmembrane O-mannosyltransferase targeting cadherins 3 + 'transmembrane O-mannosyltransferase targeting cadherins 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Cobblestone lissencephaly without muscular or ocular involvement' Class: http://www.orpha.net/ORDO/Orphanet_424982 Label(s): Biliary cystadenocarcinoma + 'Biliary cystadenocarcinoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_519398 Label(s): Isolated foveal hypoplasia - 'Isolated foveal hypoplasia' SubClassOf 'part_of' some 'Rare macular disorder' + 'Isolated foveal hypoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717330 + 'Isolated foveal hypoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 Class: http://www.orpha.net/ORDO/Orphanet_519321 Label(s): Syndromic chorioretinal dystrophy - 'Syndromic chorioretinal dystrophy' SubClassOf 'Rare genetic choroidal disorder' - 'Syndromic chorioretinal dystrophy' SubClassOf 'Rare choroidal disorder' - 'Syndromic chorioretinal dystrophy' SubClassOf 'group of disorders' + 'Syndromic chorioretinal dystrophy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_75382 Label(s): Oguchi disease - 'Oguchi disease' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Oguchi disease' SubClassOf 'part_of' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_519319 Label(s): Isolated stationary inherited retinal disorder - 'Isolated stationary inherited retinal disorder' SubClassOf 'Isolated inherited retinal disorder' - 'Isolated stationary inherited retinal disorder' SubClassOf 'group of disorders' + 'Isolated stationary inherited retinal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_1995 Label(s): Cleft lip-retinopathy syndrome - 'Cleft lip-retinopathy syndrome' SubClassOf 'disorder' - 'Cleft lip-retinopathy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Cleft lip-retinopathy syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Cleft lip-retinopathy syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Cleft lip-retinopathy syndrome' SubClassOf 'malformation syndrome' - 'Cleft lip-retinopathy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Cleft lip-retinopathy syndrome' SubClassOf 'obsolete disorder' + 'Cleft lip-retinopathy syndrome' SubClassOf 'Referred to' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_519306 Label(s): Isolated progressive inherited retinal disorder - 'Isolated progressive inherited retinal disorder' SubClassOf 'Isolated inherited retinal disorder' - 'Isolated progressive inherited retinal disorder' SubClassOf 'group of disorders' + 'Isolated progressive inherited retinal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_519300 Label(s): Isolated chorioretinal dystrophy - 'Isolated chorioretinal dystrophy' SubClassOf 'group of disorders' - 'Isolated chorioretinal dystrophy' SubClassOf 'Rare choroidal disorder' - 'Isolated chorioretinal dystrophy' SubClassOf 'Rare genetic choroidal disorder' + 'Isolated chorioretinal dystrophy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_247834 Label(s): Occult macular dystrophy - 'Occult macular dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'Occult macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Occult macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 + 'Occult macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Occult macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_1381 Label(s): Cataract-intellectual disability-anal atresia-urinary defects syndrome - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'disorder' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Syndromic cataract' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'malformation syndrome' - 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'obsolete disorder' + 'Cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'Referred to' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284454 Label(s): Acute zonal occult outer retinopathy - 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_141007 Label(s): Orofaciodigital syndrome type 9 - 'Orofaciodigital syndrome type 9' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Orofaciodigital syndrome type 9' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_697101 Label(s): Fontaine progeroid syndrome + 'Fontaine progeroid syndrome' SubClassOf 'part_of' some 'Rare systemic disease' + 'Fontaine progeroid syndrome' SubClassOf 'part_of' some 'Progeroid syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2318 Label(s): Joubert syndrome with oculorenal defect - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_314373 Label(s): Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + 'Chronic infantile diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717865 Class: http://www.orpha.net/ORDO/Orphanet_247522 Label(s): Primary ciliary dyskinesia-retinitis pigmentosa syndrome - 'Primary ciliary dyskinesia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Primary ciliary dyskinesia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_519323 Label(s): Syndromic macular dystrophy - 'Syndromic macular dystrophy' SubClassOf 'group of disorders' - 'Syndromic macular dystrophy' SubClassOf 'Syndromic inherited retinal disorder' + 'Syndromic macular dystrophy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_91347 Label(s): TSH-secreting pituitary adenoma + 'TSH-secreting pituitary adenoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_1452 Label(s): Cleidocranial dysplasia - 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_792 Label(s): X-linked retinoschisis + 'X-linked retinoschisis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'X-linked retinoschisis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'X-linked retinoschisis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_796 Label(s): Sandhoff disease - 'Sandhoff disease' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Sandhoff disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_160128 Label(s): calcium voltage-gated channel auxiliary subunit alpha2delta 4 - 'calcium voltage-gated channel auxiliary subunit alpha2delta 4' SubClassOf 'candidate gene tested in' some 'Congenital stationary night blindness' + 'calcium voltage-gated channel auxiliary subunit alpha2delta 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714070 Class: http://www.orpha.net/ORDO/Orphanet_674968 Label(s): Bilateral diffuse uveal melanocytic proliferation disease - 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'part_of' some 'Rare eye tumor' - 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'part_of' some 'Rare retinal disorder' - 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Bilateral diffuse uveal melanocytic proliferation disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716198 Class: http://www.orpha.net/ORDO/Orphanet_674965 Label(s): Choroidal osteoma - 'Choroidal osteoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Choroidal osteoma' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Choroidal osteoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716207 Class: http://www.orpha.net/ORDO/Orphanet_97339 Label(s): Dural sinus malformation - 'Dural sinus malformation' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Dural sinus malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715750 Class: http://www.orpha.net/ORDO/Orphanet_674958 Label(s): Stellate multiform amelanotic choroidopathy - 'Stellate multiform amelanotic choroidopathy' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Stellate multiform amelanotic choroidopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716213 Class: http://www.orpha.net/ORDO/Orphanet_674953 Label(s): Multiple evanescent white dot syndrome - 'Multiple evanescent white dot syndrome' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Multiple evanescent white dot syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716296 Class: http://www.orpha.net/ORDO/Orphanet_674947 Label(s): Diffuse unilateral subacute neuroretinitis - 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_674943 Label(s): Isolated angioid streaks - 'Isolated angioid streaks' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Isolated angioid streaks' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716213 Class: http://www.orpha.net/ORDO/Orphanet_674935 Label(s): Torpedo Maculopathy - 'Torpedo Maculopathy' SubClassOf 'part_of' some 'Rare macular disorder' + 'Torpedo Maculopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 Class: http://www.orpha.net/ORDO/Orphanet_48818 Label(s): Aceruloplasminemia - 'Aceruloplasminemia' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Aceruloplasminemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_140436 Label(s): Primary intraosseous venous malformation - 'Primary intraosseous venous malformation' SubClassOf 'part_of' some 'Rare venous malformation' + 'Primary intraosseous venous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715339 Class: http://www.orpha.net/ORDO/Orphanet_694228 Label(s): Congenital intrahepatic arterioportal fistula - 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Congenital arteriovenous fistula' + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Simple vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_231214 Label(s): Beta-thalassemia major - 'Beta-thalassemia major' SubClassOf 'subtype of a disorder' + 'Beta-thalassemia major' SubClassOf 'disease' + 'Beta-thalassemia major' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_1264 Label(s): Tricho-retino-dento-digital syndrome - 'Tricho-retino-dento-digital syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Tricho-retino-dento-digital syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_53540 Label(s): Goldmann-Favre syndrome - 'Goldmann-Favre syndrome' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' - 'Goldmann-Favre syndrome' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' + 'Goldmann-Favre syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Goldmann-Favre syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_1243 Label(s): Best vitelliform macular dystrophy - 'Best vitelliform macular dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'Best vitelliform macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Best vitelliform macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_699683 Label(s): Fibro-adipose vascular anomaly - 'Fibro-adipose vascular anomaly' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' + 'Fibro-adipose vascular anomaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715334 Class: http://www.orpha.net/ORDO/Orphanet_1515 Label(s): Cranioectodermal dysplasia - 'Cranioectodermal dysplasia' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Cranioectodermal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_122961 Label(s): laminin subunit alpha 2 + 'laminin subunit alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23' Class: http://www.orpha.net/ORDO/Orphanet_119953 Label(s): T-box transcription factor 1 - 'T-box transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common arterial trunk' + 'T-box transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common arterial trunk with pulmonary dominance and interrupted aortic arch' + 'T-box transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common arterial trunk with aortic dominance' Class: http://www.orpha.net/ORDO/Orphanet_2209 Label(s): Maternal phenylketonuria syndrome - 'Maternal phenylketonuria syndrome' SubClassOf 'part_of' some 'Disorder of phenylalanine metabolism' + 'Maternal phenylketonuria syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_708881 Class: http://www.orpha.net/ORDO/Orphanet_319640 Label(s): Retinal macular dystrophy type 2 - 'Retinal macular dystrophy type 2' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'Retinal macular dystrophy type 2' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Retinal macular dystrophy type 2' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_639340 Label(s): ZFP36 ring finger protein like 2 - 'ZFP36 ring finger protein like 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to an implantation defect of genetic origin' + 'ZFP36 ring finger protein like 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_468641 Label(s): Chronic enteropathy associated with SLCO2A1 gene - 'Chronic enteropathy associated with SLCO2A1 gene' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Chronic enteropathy associated with SLCO2A1 gene' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_232248 Label(s): IQ motif and Sec7 domain ArfGEF 2 - 'IQ motif and Sec7 domain ArfGEF 2' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_71862 Label(s): Inherited retinal disorder - 'Inherited retinal disorder' SubClassOf 'Rare genetic retinal disorder' - 'Inherited retinal disorder' SubClassOf 'group of disorders' - 'Inherited retinal disorder' SubClassOf 'Rare retinal disorder' + 'Inherited retinal disorder' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_139450 Label(s): Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'part_of' some 'Rare choroidal disorder' - 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'part_of' some 'Rare genetic choroidal disorder' + 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716299 Class: http://www.orpha.net/ORDO/Orphanet_1117 Label(s): Aplasia cutis-myopia syndrome - 'Aplasia cutis-myopia syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Aplasia cutis-myopia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1617 Label(s): Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - 'Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309294 Label(s): Sialidosis - 'Sialidosis' SubClassOf 'Syndromic inherited retinal disorder' + 'Sialidosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_963 Label(s): Acromegaly + 'Acromegaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_119127 Label(s): calcium binding protein 4 - 'calcium binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714070 Class: http://www.orpha.net/ORDO/Orphanet_566841 Label(s): Liver adenomatosis + 'Liver adenomatosis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_292448 Label(s): WAS/WASL interacting protein family member 1 - 'WAS/WASL interacting protein family member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Wiskott-Aldrich syndrome' + 'WAS/WASL interacting protein family member 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714493 Class: http://www.orpha.net/ORDO/Orphanet_85283 Label(s): X-linked intellectual disability, Miles-Carpenter type - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'malformation syndrome' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'disorder' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' - 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'deprecated disorder' + 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'Moved to' some 'Wieacker-Wolff syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329211 Label(s): Autosomal dominant neovascular inflammatory vitreoretinopathy - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716466 + 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717345 Class: http://www.orpha.net/ORDO/Orphanet_121474 Label(s): ATM serine/threonine kinase + 'ATM serine/threonine kinase' SubClassOf 'major susceptibility factor in' some 'Hereditary breast and/or ovarian cancer syndrome' Class: http://www.orpha.net/ORDO/Orphanet_300373 Label(s): X-linked acrogigantism - 'X-linked acrogigantism' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' + 'X-linked acrogigantism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_103920 Label(s): Undetermined colitis - 'Undetermined colitis' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' - 'Undetermined colitis' SubClassOf 'disease' - 'Undetermined colitis' SubClassOf 'disorder' + 'Undetermined colitis' SubClassOf 'Referred to' some 'Rare intestinal disease' + 'Undetermined colitis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_75377 Label(s): Central areolar choroidal dystrophy - 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' - 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Central areolar choroidal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 Class: http://www.orpha.net/ORDO/Orphanet_119743 Label(s): structural maintenance of chromosomes 1A + 'structural maintenance of chromosomes 1A' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708203 Class: http://www.orpha.net/ORDO/Orphanet_220295 Label(s): Xeroderma pigmentosum-Cockayne syndrome complex - 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_693855 Label(s): Visceral arteriovenous malformation - 'Visceral arteriovenous malformation' SubClassOf 'Rare arteriovenous malformation' + 'Visceral arteriovenous malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_715762 Class: http://www.orpha.net/ORDO/Orphanet_1059 Label(s): Blue rubber bleb nevus - 'Blue rubber bleb nevus' SubClassOf 'part_of' some 'Rare venous malformation' + 'Blue rubber bleb nevus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715339 Class: http://www.orpha.net/ORDO/Orphanet_1053 Label(s): Vein of Galen aneurysmal malformation - 'Vein of Galen aneurysmal malformation' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Vein of Galen aneurysmal malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715750 Class: http://www.orpha.net/ORDO/Orphanet_1051 Label(s): Ramos-Arroyo syndrome - 'Ramos-Arroyo syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Ramos-Arroyo syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1021 Label(s): Amaurosis-hypertrichosis syndrome - 'Amaurosis-hypertrichosis syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Amaurosis-hypertrichosis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_1006 Label(s): Alopecia antibody deficiency - 'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_251295 Label(s): Pigmented paravenous retinochoroidal atrophy - 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716296 + 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717311 Class: http://www.orpha.net/ORDO/Orphanet_251287 Label(s): Benign concentric annular macular dystrophy - 'Benign concentric annular macular dystrophy' SubClassOf 'part_of' some 'Isolated macular dystrophy' + 'Benign concentric annular macular dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_251279 Label(s): Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome + 'Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_292381 Label(s): G protein-coupled receptor 179 - 'G protein-coupled receptor 179' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'G protein-coupled receptor 179' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714079 Class: http://www.orpha.net/ORDO/Orphanet_458833 Label(s): Common cystic lymphatic malformation + 'Common cystic lymphatic malformation' SubClassOf 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_313850 Label(s): Infantile cerebellar-retinal degeneration - 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_86813 Label(s): Helicoid peripapillary chorioretinal degeneration - 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 + 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717317 Class: http://www.orpha.net/ORDO/Orphanet_225280 Label(s): transient receptor potential cation channel subfamily M member 1 - 'transient receptor potential cation channel subfamily M member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'transient receptor potential cation channel subfamily M member 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714079 Class: http://www.orpha.net/ORDO/Orphanet_313838 Label(s): Coats plus syndrome - 'Coats plus syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' - 'Coats plus syndrome' SubClassOf 'part_of' some 'Rare retinal vasculopathy' - 'Coats plus syndrome' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' + 'Coats plus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Coats plus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_648684 Label(s): Central retinal artery occlusion - 'Central retinal artery occlusion' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Central retinal artery occlusion' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_39044 Label(s): Uveal melanoma - 'Uveal melanoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Uveal melanoma' SubClassOf 'part_of' some 'Rare choroidal disorder' + 'Uveal melanoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716210 Class: http://www.orpha.net/ORDO/Orphanet_436858 Label(s): UFM1 specific peptidase 2 - 'UFM1 specific peptidase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' + 'UFM1 specific peptidase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_121311 Label(s): epidermal growth factor receptor - 'epidermal growth factor receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Neonatal inflammatory skin and bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_93616 Label(s): Hemoglobin H disease - 'Hemoglobin H disease' SubClassOf 'subtype of a disorder' + 'Hemoglobin H disease' SubClassOf 'disorder' + 'Hemoglobin H disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124149 Label(s): phosphodiesterase 6B - 'phosphodiesterase 6B' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'phosphodiesterase 6B' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714096 Class: http://www.orpha.net/ORDO/Orphanet_332912 Label(s): DNA replication helicase/nuclease 2 + 'DNA replication helicase/nuclease 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_715635 Class: http://www.orpha.net/ORDO/Orphanet_397685 Label(s): Familial hyperprolactinemia - 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_123966 Label(s): nyctalopin - 'nyctalopin' SubClassOf 'has_chromosomal location' value "Xp11.4" - 'nyctalopin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'nyctalopin' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_123937 Label(s): nuclear receptor binding SET domain protein 1 - 'nuclear receptor binding SET domain protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Beckwith-Wiedemann syndrome due to NSD1 mutation' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label(s): Infantile neurovisceral acid sphingomyelinase deficiency - 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Infantile neurovisceral acid sphingomyelinase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_494439 Label(s): Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_275749 Label(s): Beta-thalassemia and related diseases - 'Beta-thalassemia and related diseases' SubClassOf 'Hemoglobinopathy' - 'Beta-thalassemia and related diseases' SubClassOf 'Genetic hemoglobinopathy' + 'Beta-thalassemia and related diseases' SubClassOf http://www.orpha.net/ORDO/Orphanet_707786 Class: http://www.orpha.net/ORDO/Orphanet_275745 Label(s): Alpha-thalassemia and related disorders - 'Alpha-thalassemia and related disorders' SubClassOf 'Genetic hemoglobinopathy' - 'Alpha-thalassemia and related disorders' SubClassOf 'Hemoglobinopathy' + 'Alpha-thalassemia and related disorders' SubClassOf http://www.orpha.net/ORDO/Orphanet_707786 Class: http://www.orpha.net/ORDO/Orphanet_77259 Label(s): Gaucher disease type 1 - 'Gaucher disease type 1' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Gaucher disease type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_250977 Label(s): AICA-ribosiduria - 'AICA-ribosiduria' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'AICA-ribosiduria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_519304 Label(s): Isolated vitreoretinopathy - 'Isolated vitreoretinopathy' SubClassOf 'group of disorders' - 'Isolated vitreoretinopathy' SubClassOf 'Vitreoretinopathy' + 'Isolated vitreoretinopathy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_171848 Label(s): Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_171844 Label(s): Blindness-scoliosis-arachnodactyly syndrome - 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_93598 Label(s): Primary hyperoxaluria type 1 - 'Primary hyperoxaluria type 1' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_118558 Label(s): succinate dehydrogenase complex subunit C + 'succinate dehydrogenase complex subunit C' SubClassOf 'major susceptibility factor in' some 'Carney triad' Class: http://www.orpha.net/ORDO/Orphanet_369970 Label(s): Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' + 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716299 Class: http://www.orpha.net/ORDO/Orphanet_233186 Label(s): hemoglobin subunit gamma 2 + 'hemoglobin subunit gamma 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_707792 Class: http://www.orpha.net/ORDO/Orphanet_227796 Label(s): Fundus albipunctatus - 'Fundus albipunctatus' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Fundus albipunctatus' SubClassOf 'part_of' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_124068 Label(s): phenylalanine hydroxylase - 'phenylalanine hydroxylase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Mild phenylketonuria' - 'phenylalanine hydroxylase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Mild hyperphenylalaninemia' - 'phenylalanine hydroxylase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Classic phenylketonuria' + 'phenylalanine hydroxylase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708895 Class: http://www.orpha.net/ORDO/Orphanet_84064 Label(s): Syndromic diarrhea + 'Syndromic diarrhea' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717865 Class: http://www.orpha.net/ORDO/Orphanet_160020 Label(s): ALK receptor tyrosine kinase + 'ALK receptor tyrosine kinase' SubClassOf 'major susceptibility factor in' some 'Ganglioneuroblastoma' + 'ALK receptor tyrosine kinase' SubClassOf 'major susceptibility factor in' some 'Ganglioneuroma' Class: http://www.orpha.net/ORDO/Orphanet_211247 Label(s): Rare capillary malformation - 'Rare capillary malformation' SubClassOf 'Simple vascular malformation' + 'Rare capillary malformation' SubClassOf 'Rare vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_440727 Label(s): Combined hamartoma of the retina and retinal pigment epithelium + 'Combined hamartoma of the retina and retinal pigment epithelium' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_440724 Label(s): Extensive peripapillary myelinated nerve fibers - 'Extensive peripapillary myelinated nerve fibers' SubClassOf 'disease' - 'Extensive peripapillary myelinated nerve fibers' SubClassOf 'disorder' - 'Extensive peripapillary myelinated nerve fibers' SubClassOf 'part_of' some 'Rare optic nerve disorder' + 'Extensive peripapillary myelinated nerve fibers' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_714041 + 'Extensive peripapillary myelinated nerve fibers' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_99179 Label(s): Kandori fleck retina - 'Kandori fleck retina' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Kandori fleck retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_506307 Label(s): Stromme syndrome - 'Stromme syndrome' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Stromme syndrome' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Stromme syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 + 'Stromme syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 Class: http://www.orpha.net/ORDO/Orphanet_519327 Label(s): Syndromic vitreoretinopathy - 'Syndromic vitreoretinopathy' SubClassOf 'Vitreoretinopathy' - 'Syndromic vitreoretinopathy' SubClassOf 'group of disorders' + 'Syndromic vitreoretinopathy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_99139 Label(s): Unstable hemoglobin disease - 'Unstable hemoglobin disease' SubClassOf 'disorder' - 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Hemoglobinopathy' - 'Unstable hemoglobin disease' SubClassOf 'disease' - 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' + 'Unstable hemoglobin disease' SubClassOf 'obsolete disorder' + 'Unstable hemoglobin disease' SubClassOf 'Referred to' some 'Dominant beta-thalassemia' Class: http://www.orpha.net/ORDO/Orphanet_168339 Label(s): protocadherin 19 - 'protocadherin 19' SubClassOf 'disease-causing germline mutation(s) in' some 'Female restricted epilepsy with intellectual disability' + 'protocadherin 19' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714652 Class: http://www.orpha.net/ORDO/Orphanet_71505 Label(s): Cancer-associated retinopathy - 'Cancer-associated retinopathy' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Cancer-associated retinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_98945 Label(s): Coloboma of macula - 'Coloboma of macula' SubClassOf 'part_of' some 'Rare genetic macular disorder' - 'Coloboma of macula' SubClassOf 'part_of' some 'Rare macular disorder' + 'Coloboma of macula' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716419 + 'Coloboma of macula' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717330 Class: http://www.orpha.net/ORDO/Orphanet_705899 Label(s): Rho related BTB domain containing 2 + 'Rho related BTB domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile developmental and epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_263347 Label(s): MRCS syndrome - 'MRCS syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'MRCS syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'MRCS syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_3437 Label(s): Vogt-Koyanagi-Harada disease + 'Vogt-Koyanagi-Harada disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716195 Class: http://www.orpha.net/ORDO/Orphanet_3417 Label(s): Van den Bosch syndrome - 'Van den Bosch syndrome' SubClassOf 'disorder' - 'Van den Bosch syndrome' SubClassOf 'malformation syndrome' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Genetic acrokeratoderma' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Van den Bosch syndrome' SubClassOf 'part_of' some 'Acrokeratoderma' + 'Van den Bosch syndrome' SubClassOf 'obsolete disorder' + 'Van den Bosch syndrome' SubClassOf 'Referred to' some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_846 Label(s): Alpha-thalassemia - 'Alpha-thalassemia' SubClassOf 'disorder' - 'Alpha-thalassemia' SubClassOf 'part_of' some 'Hematological disorder with renal involvement' - 'Alpha-thalassemia' SubClassOf 'part_of' some 'Alpha-thalassemia and related disorders' - 'Alpha-thalassemia' SubClassOf 'disease' + 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' + 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related disorders' + 'Alpha-thalassemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_93451 Label(s): Cleidocranial dysplasia and isolated cranial ossification defect + 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_497094 Label(s): G protein subunit beta 3 - 'G protein subunit beta 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital stationary night blindness' - 'G protein subunit beta 3' SubClassOf 'has_chromosomal location' value "12p13.31" - 'G protein subunit beta 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_96253 Label(s): Cushing disease + 'Cushing disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_160148 Label(s): Cap polyposis - 'Cap polyposis' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'Cap polyposis' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_123749 Label(s): nebulin + 'nebulin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708123 Class: http://www.orpha.net/ORDO/Orphanet_266126 Label(s): glutamate ionotropic receptor NMDA type subunit 2B - 'glutamate ionotropic receptor NMDA type subunit 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_291853 Label(s): GATA binding protein 6 + 'GATA binding protein 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Common arterial trunk with pulmonary dominance and interrupted aortic arch' + 'GATA binding protein 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Common arterial trunk with aortic dominance' Class: http://www.orpha.net/ORDO/Orphanet_139455 Label(s): Autosomal recessive bestrophinopathy - 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 + 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_3378 Label(s): Trisomy 13 syndrome - 'Trisomy 13 syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_3363 Label(s): Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_330041 Label(s): Hemoglobin M disease - 'Hemoglobin M disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' - 'Hemoglobin M disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Hemoglobin M disease' SubClassOf 'part_of' some 'Rare genetic hematologic disease' + 'Hemoglobin M disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_707993 Class: http://www.orpha.net/ORDO/Orphanet_330001 Label(s): Wild type ATTR amyloidosis + 'Wild type ATTR amyloidosis' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_597887 Label(s): ALPI-related inflammatory bowel disease - 'ALPI-related inflammatory bowel disease' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'ALPI-related inflammatory bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_611207 Label(s): Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_156230 Label(s): Facial arteriovenous malformation - 'Facial arteriovenous malformation' SubClassOf 'Rare arteriovenous malformation' - 'Facial arteriovenous malformation' SubClassOf 'group of disorders' + 'Facial arteriovenous malformation' SubClassOf 'obsolete group of disorder' + 'Facial arteriovenous malformation' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_707944 Class: http://www.orpha.net/ORDO/Orphanet_306636 Label(s): Rare tumor of liver and intrahepatic biliary tract - 'Rare tumor of liver and intrahepatic biliary tract' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_306633 Label(s): Rare tumor of gallbladder and extrahepatic biliary tract - 'Rare tumor of gallbladder and extrahepatic biliary tract' SubClassOf 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_119148 Label(s): calcium voltage-gated channel subunit alpha1 F - 'calcium voltage-gated channel subunit alpha1 F' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'calcium voltage-gated channel subunit alpha1 F' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714070 Class: http://www.orpha.net/ORDO/Orphanet_141189 Label(s): Cerebrofacial arteriovenous metameric syndrome - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715757 Class: http://www.orpha.net/ORDO/Orphanet_141194 Label(s): Cerebrofacial arteriovenous metameric syndrome type 1 - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'subtype of a disorder' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'obsolete subtype of disorder' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'Referred to' some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141199 Label(s): Cerebrofacial arteriovenous metameric syndrome type 3 - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'part_of' some 'Cerebrofacial arteriovenous metameric syndrome' - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'subtype of a disorder' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'obsolete subtype of disorder' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'Referred to' some 'Cerebrofacial arteriovenous metameric syndrome' Class: http://www.orpha.net/ORDO/Orphanet_699068 Label(s): Fontan-associated liver disease + 'Fontan-associated liver disease' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_96 Label(s): Ataxia with vitamin E deficiency - 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Ataxia with vitamin E deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2346 Label(s): Angioosteohypertrophic syndrome - 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic skin vascular disorder' - 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' - 'Angioosteohypertrophic syndrome' SubClassOf 'Complex vascular malformation with associated anomalies' - 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' - 'Angioosteohypertrophic syndrome' SubClassOf 'Skin vascular disease' - 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic complex vascular malformation with associated anomalies' - 'Angioosteohypertrophic syndrome' SubClassOf 'group of disorders' + 'Angioosteohypertrophic syndrome' SubClassOf 'Referred to' some 'Rare vascular anomaly' + 'Angioosteohypertrophic syndrome' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_244378 Label(s): solute carrier family 24 member 1 - 'solute carrier family 24 member 1' SubClassOf 'gene with protein product' - 'solute carrier family 24 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' - 'solute carrier family 24 member 1' SubClassOf 'has_chromosomal location' value "15q22.31" Class: http://www.orpha.net/ORDO/Orphanet_3205 Label(s): Sturge-Weber syndrome + 'Sturge-Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 + 'Sturge-Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_65 Label(s): Leber congenital amaurosis - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Leber congenital amaurosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Leber congenital amaurosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_64 Label(s): Alström syndrome - 'Alström syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Alström syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_63 Label(s): Alport syndrome + 'Alport syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716427 Class: http://www.orpha.net/ORDO/Orphanet_53721 Label(s): Spinal arteriovenous metameric syndrome - 'Spinal arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Spinal arteriovenous metameric syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715757 Class: http://www.orpha.net/ORDO/Orphanet_50 Label(s): Aicardi syndrome - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' - 'Aicardi syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Aicardi syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716299 Class: http://www.orpha.net/ORDO/Orphanet_648250 Label(s): solute carrier family 32 member 1 + 'solute carrier family 32 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic epilepsy with febrile seizure plus' Class: http://www.orpha.net/ORDO/Orphanet_157850 Label(s): Pantothenate kinase-associated neurodegeneration - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_411696 Label(s): Proton-pump inhibitor-responsive esophageal eosinophilia - 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' - 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf 'disorder' - 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf 'disease' + 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf 'Referred to' some 'Primary eosinophilic gastrointestinal disease' + 'Proton-pump inhibitor-responsive esophageal eosinophilia' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_16 Label(s): Blue cone monochromatism - 'Blue cone monochromatism' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Blue cone monochromatism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_14 Label(s): Abetalipoproteinemia - 'Abetalipoproteinemia' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Abetalipoproteinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_291703 Label(s): proline rich transmembrane protein 2 - 'proline rich transmembrane protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' Class: http://www.orpha.net/ORDO/Orphanet_79189 Label(s): Peroxisome biogenesis disorder - 'Peroxisome biogenesis disorder' SubClassOf 'Syndromic rod-cone dystrophy' + 'Peroxisome biogenesis disorder' SubClassOf http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_98942 Label(s): Coloboma of choroid and retina - 'Coloboma of choroid and retina' SubClassOf 'part_of' some 'Rare disorder of the posterior segment of the eye' - 'Coloboma of choroid and retina' SubClassOf 'part_of' some 'Rare genetic disorder of the posterior segment of the eye' + 'Coloboma of choroid and retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717311 + 'Coloboma of choroid and retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716296 Class: http://www.orpha.net/ORDO/Orphanet_363989 Label(s): Familial benign flecked retina - 'Familial benign flecked retina' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Familial benign flecked retina' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_71213 Label(s): Retinal capillary malformation - 'Retinal capillary malformation' SubClassOf 'part_of' some 'Rare genetic vascular tumor' - 'Retinal capillary malformation' SubClassOf 'part_of' some 'Rare genetic retinal vasculopathy' - 'Retinal capillary malformation' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Retinal capillary malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_138671 Label(s): hemoglobin subunit alpha 1 + 'hemoglobin subunit alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_707789 + 'hemoglobin subunit alpha 1' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_715143 Class: http://www.orpha.net/ORDO/Orphanet_98661 Label(s): Syndromic rod-cone dystrophy - 'Syndromic rod-cone dystrophy' SubClassOf 'Syndromic inherited retinal disorder' - 'Syndromic rod-cone dystrophy' SubClassOf 'group of disorders' + 'Syndromic rod-cone dystrophy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_251290 Label(s): Parietal foramina with clavicular hypoplasia - 'Parietal foramina with clavicular hypoplasia' SubClassOf 'part_of' some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_401920 Label(s): Fibrolamellar hepatocellular carcinoma + 'Fibrolamellar hepatocellular carcinoma' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' Class: http://www.orpha.net/ORDO/Orphanet_3156 Label(s): Senior-Loken syndrome - 'Senior-Loken syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Senior-Loken syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_360224 Label(s): G protein subunit alpha 11 + 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_714737 Class: http://www.orpha.net/ORDO/Orphanet_648159 Label(s): ribosomal protein L10 like - 'ribosomal protein L10 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_90308 Label(s): Capillary-lymphatic-venous malformation with segmental distribution - 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Angioosteohypertrophic syndrome' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Skin vascular disease' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Genetic skin vascular disorder' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715460 + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Rare venous malformation' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Genetic complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_90307 Label(s): Parkes Weber syndrome - 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Angioosteohypertrophic syndrome' + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Skin vascular disease' + 'Parkes Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715466 + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Genetic complex vascular malformation with associated anomalies' + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' + 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Genetic skin vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_622001 Label(s): zinc finger SWIM-type containing 7 + 'zinc finger SWIM-type containing 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_120641 Label(s): CLN5 intracellular trafficking protein - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_178389 Label(s): Osteopetrosis-hypogammaglobulinemia syndrome - 'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_364055 Label(s): Severe early-childhood-onset retinal dystrophy - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 Class: http://www.orpha.net/ORDO/Orphanet_83454 Label(s): Glomuvenous malformation - 'Glomuvenous malformation' SubClassOf 'part_of' some 'Rare venous malformation' + 'Glomuvenous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715334 + 'Glomuvenous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715339 Class: http://www.orpha.net/ORDO/Orphanet_2621 Label(s): OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome - 'OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome' SubClassOf 'Referred to' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome' SubClassOf 'Referred to' some 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_519302 Label(s): Isolated macular dystrophy - 'Isolated macular dystrophy' SubClassOf 'Isolated progressive inherited retinal disorder' - 'Isolated macular dystrophy' SubClassOf 'group of disorders' + 'Isolated macular dystrophy' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_3088 Label(s): Revesz syndrome - 'Revesz syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Revesz syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_3086 Label(s): Autosomal dominant vitreoretinochoroidopathy - 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'part_of' some 'Isolated vitreoretinopathy' + 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716441 Class: http://www.orpha.net/ORDO/Orphanet_3085 Label(s): Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_566175 Label(s): Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_138523 Label(s): signal transducer and activator of transcription 3 + 'signal transducer and activator of transcription 3' SubClassOf 'disease-causing somatic mutation(s) in' some 'Breast implant-associated anaplastic large cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_314769 Label(s): Somatomammotropinoma + 'Somatomammotropinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_715120 Class: http://www.orpha.net/ORDO/Orphanet_471324 Label(s): tryptophanyl tRNA synthetase 2, mitochondrial + 'tryptophanyl tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile dystonia-parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_695807 Label(s): Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Immune dysregulation with inflammatory bowel disease' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_3034 Label(s): Delayed membranous cranial ossification - 'Delayed membranous cranial ossification' SubClassOf 'part_of' some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_2881 Label(s): Cutaneous photosensitivity-lethal colitis syndrome - 'Cutaneous photosensitivity-lethal colitis syndrome' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' + 'Cutaneous photosensitivity-lethal colitis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717865 Class: http://www.orpha.net/ORDO/Orphanet_3011 Label(s): Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - 'Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2875 Label(s): Phakomatosis pigmentovascularis + 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_538934 Label(s): X-linked lymphoproliferative disease due to XIAP deficiency - 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf 'part_of' some 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label(s): Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - 'Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716446 Class: http://www.orpha.net/ORDO/Orphanet_436274 Label(s): Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - 'Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_292102 Label(s): centrosomal protein 63 - 'centrosomal protein 63' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'centrosomal protein 63' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_436245 Label(s): Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_2804 Label(s): W syndrome - 'W syndrome' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' - 'W syndrome' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' - 'W syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_120554 Label(s): WW domain containing oxidoreductase - 'WW domain containing oxidoreductase' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'WW domain containing oxidoreductase' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_708171 Class: http://www.orpha.net/ORDO/Orphanet_67042 Label(s): Late-onset retinal degeneration - 'Late-onset retinal degeneration' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' + 'Late-onset retinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717324 + 'Late-onset retinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 + 'Late-onset retinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 + 'Late-onset retinal degeneration' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717336 Class: http://www.orpha.net/ORDO/Orphanet_443079 Label(s): Central serous chorioretinopathy - 'Central serous chorioretinopathy' SubClassOf 'part_of' some 'Isolated chorioretinal dystrophy' + 'Central serous chorioretinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 Class: http://www.orpha.net/ORDO/Orphanet_279904 Label(s): Primary intraocular lymphoma - 'Primary intraocular lymphoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Primary intraocular lymphoma' SubClassOf 'disease' - 'Primary intraocular lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' - 'Primary intraocular lymphoma' SubClassOf 'disorder' + 'Primary intraocular lymphoma' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_231237 Label(s): Delta-beta-thalassemia - 'Delta-beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia associated with another hemoglobin anomaly' + 'Delta-beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_231226 Label(s): Dominant beta-thalassemia - 'Dominant beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia' - 'Dominant beta-thalassemia' SubClassOf 'subtype of a disorder' + 'Dominant beta-thalassemia' SubClassOf 'disorder' + 'Dominant beta-thalassemia' SubClassOf 'part_of' some 'Beta-thalassemia and related diseases' + 'Dominant beta-thalassemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231222 Label(s): Beta-thalassemia intermedia - 'Beta-thalassemia intermedia' SubClassOf 'subtype of a disorder' + 'Beta-thalassemia intermedia' SubClassOf 'disease' + 'Beta-thalassemia intermedia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_674924 Label(s): Isolated retinal racemose hemangioma - 'Isolated retinal racemose hemangioma' SubClassOf 'part_of' some 'Rare retinal vasculopathy' + 'Isolated retinal racemose hemangioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716450 Class: http://www.orpha.net/ORDO/Orphanet_2788 Label(s): Osteoporosis-pseudoglioma syndrome - 'Osteoporosis-pseudoglioma syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' + 'Osteoporosis-pseudoglioma syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Osteoporosis-pseudoglioma syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_2737 Label(s): Onchocerciasis + 'Onchocerciasis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_2718 Label(s): Oculotrichodysplasia - 'Oculotrichodysplasia' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Oculotrichodysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716393 Class: http://www.orpha.net/ORDO/Orphanet_2715 Label(s): Severe oculo-renal-cerebellar syndrome - 'Severe oculo-renal-cerebellar syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Severe oculo-renal-cerebellar syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716459 + 'Severe oculo-renal-cerebellar syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717348 Class: http://www.orpha.net/ORDO/Orphanet_79255 Label(s): GM1 gangliosidosis type 1 - 'GM1 gangliosidosis type 1' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'GM1 gangliosidosis type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_79253 Label(s): Mild phenylketonuria - 'Mild phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' - 'Mild phenylketonuria' SubClassOf 'subtype of a disorder' + 'Mild phenylketonuria' SubClassOf 'deprecated subtype of disorder' + 'Mild phenylketonuria' SubClassOf 'Moved to' some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_103908 Label(s): Congenital sodium diarrhea + 'Congenital sodium diarrhea' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_717851 Class: http://www.orpha.net/ORDO/Orphanet_5 Label(s): Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndromic rod-cone dystrophy' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716405 Class: http://www.orpha.net/ORDO/Orphanet_75378 Label(s): Oligocone trichromacy - 'Oligocone trichromacy' SubClassOf 'part_of' some 'Isolated stationary inherited retinal disorder' + 'Oligocone trichromacy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716367 Class: http://www.orpha.net/ORDO/Orphanet_118449 Label(s): S-antigen visual arrestin - 'S-antigen visual arrestin' SubClassOf 'candidate gene tested in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_451586 Label(s): IKAROS family zinc finger 3 + 'IKAROS family zinc finger 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency' Class: http://www.orpha.net/ORDO/Orphanet_1180 Label(s): Ataxia-hypogonadism-choroidal dystrophy syndrome - 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'part_of' some 'Syndromic chorioretinal dystrophy' - 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716342 Class: http://www.orpha.net/ORDO/Orphanet_279894 Label(s): Toxic maculopathy due to antimalarial drugs - 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'part_of' some 'Rare retinal disorder' + 'Toxic maculopathy due to antimalarial drugs' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716432 Class: http://www.orpha.net/ORDO/Orphanet_695631 Label(s): Primary vitreoretinal large B-cell lymphoma - 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' + 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716410 Class: http://www.orpha.net/ORDO/Orphanet_35686 Label(s): Serpiginous choroiditis + 'Serpiginous choroiditis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716348 + 'Serpiginous choroiditis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_716195 Class: http://www.orpha.net/ORDO/Orphanet_169139 Label(s): Transient hypogammaglobulinemia of infancy - 'Transient hypogammaglobulinemia of infancy' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' + 'Transient hypogammaglobulinemia of infancy' SubClassOf 'part_of' some 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_707652 Label(s): centrosomal protein 295 + 'centrosomal protein 295' SubClassOf 'gene with protein product' + 'centrosomal protein 295' SubClassOf 'has_chromosomal location' value "11q21" + 'centrosomal protein 295' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714496 Label(s): Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome + 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' + 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' SubClassOf 'Disease' + 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714493 Label(s): Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'Disorder' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714490 Label(s): PERCC1-related congenital intractable malabsorptive diarrhea + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'part_of' some 'Rare non-syndromic inflammatory bowel disease' + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'Disorder' + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714487 Label(s): Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome + 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' SubClassOf 'part_of' some 'Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease' + 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' SubClassOf 'Disorder' + 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714484 Label(s): AGR2-related infantile-onset inflammatory bowel disease + 'AGR2-related infantile-onset inflammatory bowel disease' SubClassOf 'Disease' + 'AGR2-related infantile-onset inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'AGR2-related infantile-onset inflammatory bowel disease' SubClassOf 'part_of' some 'Rare non-syndromic inflammatory bowel disease' + 'AGR2-related infantile-onset inflammatory bowel disease' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714481 Label(s): SCGN-related severe early-onset hereditary ulcerative colitis + 'SCGN-related severe early-onset hereditary ulcerative colitis' SubClassOf 'Disease' + 'SCGN-related severe early-onset hereditary ulcerative colitis' SubClassOf 'part_of' some 'Rare non-syndromic inflammatory bowel disease' + 'SCGN-related severe early-onset hereditary ulcerative colitis' SubClassOf 'Disorder' + 'SCGN-related severe early-onset hereditary ulcerative colitis' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_714472 Label(s): Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome + 'Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' + 'Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome' SubClassOf 'Disorder' + 'Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_708676 Label(s): trinucleotide repeat containing adaptor 6A + 'trinucleotide repeat containing adaptor 6A' SubClassOf 'gene with protein product' + 'trinucleotide repeat containing adaptor 6A' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial adult myoclonic epilepsy' + 'trinucleotide repeat containing adaptor 6A' SubClassOf 'has_chromosomal location' value "16p12.1" Class: http://www.orpha.net/ORDO/Orphanet_708687 Label(s): calcium voltage-gated channel subunit alpha1 E + 'calcium voltage-gated channel subunit alpha1 E' SubClassOf 'gene with protein product' + 'calcium voltage-gated channel subunit alpha1 E' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile developmental and epileptic encephalopathy' + 'calcium voltage-gated channel subunit alpha1 E' SubClassOf 'has_chromosomal location' value "1q25.3" Class: http://www.orpha.net/ORDO/Orphanet_708692 Label(s): potassium voltage-gated channel subfamily H member 5 + 'potassium voltage-gated channel subfamily H member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'potassium voltage-gated channel subfamily H member 5' SubClassOf 'has_chromosomal location' value "14q23.2" + 'potassium voltage-gated channel subfamily H member 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_714423 Label(s): Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome + 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' SubClassOf 'Disorder' + 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' + 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714413 Label(s): 9p23p22.2 microdeletion syndrome + '9p23p22.2 microdeletion syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_714410 Label(s): CARD8-related inflammatory bowel disease + 'CARD8-related inflammatory bowel disease' SubClassOf 'part_of' some 'Rare non-syndromic inflammatory bowel disease' + 'CARD8-related inflammatory bowel disease' SubClassOf 'Disease' + 'CARD8-related inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'CARD8-related inflammatory bowel disease' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714407 Label(s): Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_714404 Label(s): Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'Disorder' + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717268 Label(s): Circumscribed astrocytic glioma + 'Circumscribed astrocytic glioma' SubClassOf 'Astrocytoma' + 'Circumscribed astrocytic glioma' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717260 Label(s): Rare genetic generalized retinal disorder + 'Rare genetic generalized retinal disorder' SubClassOf 'Rare genetic retinal disorder' + 'Rare genetic generalized retinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717257 Label(s): Rare genetic predominantly chorioretinal disorder + 'Rare genetic predominantly chorioretinal disorder' SubClassOf 'Rare genetic retinal disorder' + 'Rare genetic predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717225 Label(s): nuclear factor I B + 'nuclear factor I B' SubClassOf 'role in the phenotype of' some '9p23p22.2 microdeletion syndrome' + 'nuclear factor I B' SubClassOf 'has_chromosomal location' value "9p23-p22.3" + 'nuclear factor I B' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation' + 'nuclear factor I B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_716299 Label(s): Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature + 'Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Rare genetic non-progressive predominantly chorioretinal disorder' + 'Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Rare non-progressive predominantly chorioretinal disorder' + 'Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716195 Label(s): Rare inflammatory choroidal disorder + 'Rare inflammatory choroidal disorder' SubClassOf 'Rare choroidal disorder' + 'Rare inflammatory choroidal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_714399 Label(s): Global developmental delay-dental enamel defects-ataxia syndrome + 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714385 Label(s): Global developmental delay-high pain tolerance-intellectual disability syndrome + 'Global developmental delay-high pain tolerance-intellectual disability syndrome' SubClassOf 'Disorder' + 'Global developmental delay-high pain tolerance-intellectual disability syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_716913 Label(s): Ubiquitously expressed proteins associated congenital myasthenic syndrome + 'Ubiquitously expressed proteins associated congenital myasthenic syndrome' SubClassOf 'part_of' some 'Congenital myasthenic syndrome' + 'Ubiquitously expressed proteins associated congenital myasthenic syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_716908 Label(s): Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis + 'Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis' SubClassOf 'Subtype of a disorder' + 'Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis' SubClassOf 'Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_715635 Label(s): Rothmund-Thomson syndrome type 4 + 'Rothmund-Thomson syndrome type 4' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_717097 Label(s): actin related protein 2/3 complex subunit 1B + 'actin related protein 2/3 complex subunit 1B' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' + 'actin related protein 2/3 complex subunit 1B' SubClassOf 'gene with protein product' + 'actin related protein 2/3 complex subunit 1B' SubClassOf 'has_chromosomal location' value "7q22.1" Class: http://www.orpha.net/ORDO/Orphanet_716899 Label(s): Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + 'Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' SubClassOf 'Presynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_716893 Label(s): Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine + 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' SubClassOf 'Presynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_716881 Label(s): Congenital myasthenic syndrome due to a sodium channel 1.4 defect + 'Congenital myasthenic syndrome due to a sodium channel 1.4 defect' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to a sodium channel 1.4 defect' SubClassOf 'Postsynaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_716109 Label(s): Global developmental delay-facial dysmorphism-brachydactyly syndrome + 'Global developmental delay-facial dysmorphism-brachydactyly syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-facial dysmorphism-brachydactyly syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_716825 Label(s): Congenital myasthenic syndrome due to defects in endplate development and maintenance + 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' SubClassOf 'Postsynaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_716816 Label(s): Congenital myasthenic syndrome with primary acetylcholine receptor deficiency + 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' SubClassOf 'Postsynaptic congenital myasthenic syndrome' + 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_716290 Label(s): Rare predominantly chorioretinal disorder + 'Rare predominantly chorioretinal disorder' SubClassOf 'Rare retinal disorder' + 'Rare predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715750 Label(s): Intracranial fast-flow vascular malformation + 'Intracranial fast-flow vascular malformation' SubClassOf 'Group of disorders' + 'Intracranial fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_715757 Label(s): Metameric fast-flow vascular malformation + 'Metameric fast-flow vascular malformation' SubClassOf 'Group of disorders' + 'Metameric fast-flow vascular malformation' SubClassOf 'Unifocal fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_708934 Label(s): serine peptidase inhibitor Kazal type 2 + 'serine peptidase inhibitor Kazal type 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'serine peptidase inhibitor Kazal type 2' SubClassOf 'has_chromosomal location' value "4q12" + 'serine peptidase inhibitor Kazal type 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_714692 Label(s): Congenital disseminated pyogenic granuloma + 'Congenital disseminated pyogenic granuloma' SubClassOf 'Disorder' + 'Congenital disseminated pyogenic granuloma' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_716198 Label(s): Rare paraneoplastic choroidal disorder + 'Rare paraneoplastic choroidal disorder' SubClassOf 'Rare eye tumor' + 'Rare paraneoplastic choroidal disorder' SubClassOf 'Group of disorders' + 'Rare paraneoplastic choroidal disorder' SubClassOf 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_714150 Label(s): Stellate non-hereditary idiopathic foveomacular retinoschisis + 'Stellate non-hereditary idiopathic foveomacular retinoschisis' SubClassOf 'Disorder' + 'Stellate non-hereditary idiopathic foveomacular retinoschisis' SubClassOf 'Disease' + 'Stellate non-hereditary idiopathic foveomacular retinoschisis' SubClassOf 'part_of' some 'Rare isolated progressive predominantly macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_714138 Label(s): Circumscribed choroidal hemangioma + 'Circumscribed choroidal hemangioma' SubClassOf 'Disease' + 'Circumscribed choroidal hemangioma' SubClassOf 'part_of' some 'Rare vascular choroidal disorder' + 'Circumscribed choroidal hemangioma' SubClassOf 'part_of' some 'Developmental defect of the eye' + 'Circumscribed choroidal hemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Circumscribed choroidal hemangioma' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_709916 Label(s): RNA polymerase II subunit A + 'RNA polymerase II subunit A' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' + 'RNA polymerase II subunit A' SubClassOf 'gene with protein product' + 'RNA polymerase II subunit A' SubClassOf 'has_chromosomal location' value "17p13.1" Class: http://www.orpha.net/ORDO/Orphanet_709914 Label(s): MYC binding protein 2 + 'MYC binding protein 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'MYC binding protein 2' SubClassOf 'has_chromosomal location' value "13q22.3" + 'MYC binding protein 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_709911 Label(s): zinc finger protein 148 + 'zinc finger protein 148' SubClassOf 'gene with protein product' + 'zinc finger protein 148' SubClassOf 'has_chromosomal location' value "3q21.2" + 'zinc finger protein 148' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_709908 Label(s): lymphoid enhancer binding factor 1 + 'lymphoid enhancer binding factor 1' SubClassOf 'gene with protein product' + 'lymphoid enhancer binding factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' + 'lymphoid enhancer binding factor 1' SubClassOf 'has_chromosomal location' value "4q25" Class: http://www.orpha.net/ORDO/Orphanet_709905 Label(s): TM2 domain containing 3 + 'TM2 domain containing 3' SubClassOf 'gene with protein product' + 'TM2 domain containing 3' SubClassOf 'has_chromosomal location' value "15q26.3" + 'TM2 domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714109 Label(s): Ocular siderosis + 'Ocular siderosis' SubClassOf 'Disorder' + 'Ocular siderosis' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Ocular siderosis' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_716772 Label(s): Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance + 'Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance' SubClassOf 'Congenital myasthenic syndrome with kinetic defect' + 'Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_716758 Label(s): Fast-channel congenital myasthenic syndrome + 'Fast-channel congenital myasthenic syndrome' SubClassOf 'Subtype of a disorder' + 'Fast-channel congenital myasthenic syndrome' SubClassOf 'Congenital myasthenic syndrome with kinetic defect' Class: http://www.orpha.net/ORDO/Orphanet_708014 Label(s): Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment + 'Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment' SubClassOf 'Malformation syndrome' + 'Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_708019 Label(s): Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'Disorder' + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_716293 Label(s): Rare non-progressive predominantly chorioretinal disorder + 'Rare non-progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' + 'Rare non-progressive predominantly chorioretinal disorder' SubClassOf 'Rare predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_709898 Label(s): kringle containing transmembrane protein 1 + 'kringle containing transmembrane protein 1' SubClassOf 'gene with protein product' + 'kringle containing transmembrane protein 1' SubClassOf 'has_chromosomal location' value "22q12.1" + 'kringle containing transmembrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth' Class: http://www.orpha.net/ORDO/Orphanet_714096 Label(s): Congenital stationary night blindness, Riggs type + 'Congenital stationary night blindness, Riggs type' SubClassOf 'Disease' + 'Congenital stationary night blindness, Riggs type' SubClassOf 'part_of' some 'Congenital stationary night blindness' + 'Congenital stationary night blindness, Riggs type' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714079 Label(s): Complete congenital stationary night blindness, Schubert-Bornschein type + 'Complete congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'Subtype of a disorder' + 'Complete congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'part_of' some 'Congenital stationary night blindness, Schubert-Bornschein type' Class: http://www.orpha.net/ORDO/Orphanet_718015 Label(s): F-box and WD repeat domain containing 7 + 'F-box and WD repeat domain containing 7' SubClassOf 'has_chromosomal location' value "4q31.3" + 'F-box and WD repeat domain containing 7' SubClassOf 'gene with protein product' + 'F-box and WD repeat domain containing 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_714046 Label(s): Primary choroidal lymphoma + 'Primary choroidal lymphoma' SubClassOf 'Disorder' + 'Primary choroidal lymphoma' SubClassOf 'part_of' some 'Rare malignant neoplastic choroidal disorder' + 'Primary choroidal lymphoma' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_716210 Label(s): Rare malignant neoplastic choroidal disorder + 'Rare malignant neoplastic choroidal disorder' SubClassOf 'Rare neoplastic choroidal disorder' + 'Rare malignant neoplastic choroidal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_714477 Label(s): Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome + 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' SubClassOf 'Disease' + 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' + 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_716296 Label(s): Rare isolated non-progressive predominantly chorioretinal disorder + 'Rare isolated non-progressive predominantly chorioretinal disorder' SubClassOf 'Rare non-progressive predominantly chorioretinal disorder' + 'Rare isolated non-progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716466 Label(s): Rare isolated progressive retinal vasculopathy + 'Rare isolated progressive retinal vasculopathy' SubClassOf 'Rare progressive retinal vasculopathy' + 'Rare isolated progressive retinal vasculopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716459 Label(s): Rare disorder with progressive retinal vasculopathy as a major feature + 'Rare disorder with progressive retinal vasculopathy as a major feature' SubClassOf 'Group of disorders' + 'Rare disorder with progressive retinal vasculopathy as a major feature' SubClassOf 'Rare progressive retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_716455 Label(s): Rare progressive retinal vasculopathy + 'Rare progressive retinal vasculopathy' SubClassOf 'Rare retinal vasculopathy' + 'Rare progressive retinal vasculopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716450 Label(s): Rare non-progressive retinal vasculopathy + 'Rare non-progressive retinal vasculopathy' SubClassOf 'Rare retinal vasculopathy' + 'Rare non-progressive retinal vasculopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716446 Label(s): Rare disorder with progressive vitreoretinopathy disorder as a major feature + 'Rare disorder with progressive vitreoretinopathy disorder as a major feature' SubClassOf 'Rare progressive vitreoretinopathy' + 'Rare disorder with progressive vitreoretinopathy disorder as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716441 Label(s): Rare isolated progressive vitreoretinopathy + 'Rare isolated progressive vitreoretinopathy' SubClassOf 'Rare progressive vitreoretinopathy' + 'Rare isolated progressive vitreoretinopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716435 Label(s): Rare non-progressive vitreoretinopathy + 'Rare non-progressive vitreoretinopathy' SubClassOf 'Vitreoretinopathy' + 'Rare non-progressive vitreoretinopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716432 Label(s): Rare isolated progressive predominantly macular disorder + 'Rare isolated progressive predominantly macular disorder' SubClassOf 'Rare progressive predominantly macular disorder' + 'Rare isolated progressive predominantly macular disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716427 Label(s): Rare disorder with progressive predominantly macular disorder as a major feature + 'Rare disorder with progressive predominantly macular disorder as a major feature' SubClassOf 'Group of disorders' + 'Rare disorder with progressive predominantly macular disorder as a major feature' SubClassOf 'Rare genetic progressive predominantly macular disorder' + 'Rare disorder with progressive predominantly macular disorder as a major feature' SubClassOf 'Rare progressive predominantly macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_716422 Label(s): Rare disorder with non-progressive predominantly macular disorder as a major feature + 'Rare disorder with non-progressive predominantly macular disorder as a major feature' SubClassOf 'Rare genetic non-progressive predominantly macular disorder' + 'Rare disorder with non-progressive predominantly macular disorder as a major feature' SubClassOf 'Group of disorders' + 'Rare disorder with non-progressive predominantly macular disorder as a major feature' SubClassOf 'Rare non-progressive predominantly macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_716416 Label(s): Rare progressive predominantly macular disorder + 'Rare progressive predominantly macular disorder' SubClassOf 'Rare macular disorder' + 'Rare progressive predominantly macular disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716342 Label(s): Rare disorder with progressive predominantly chorioretinal disorder as a major feature + 'Rare disorder with progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Rare progressive predominantly chorioretinal disorder' + 'Rare disorder with progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Group of disorders' + 'Rare disorder with progressive predominantly chorioretinal disorder as a major feature' SubClassOf 'Rare genetic progressive predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_716917 Label(s): Congenital myasthenic syndrome with mitochondrial defect + 'Congenital myasthenic syndrome with mitochondrial defect' SubClassOf 'Ubiquitously expressed proteins associated congenital myasthenic syndrome' + 'Congenital myasthenic syndrome with mitochondrial defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_715701 Label(s): Infant-type hemispheric glioma ROS1-altered + 'Infant-type hemispheric glioma ROS1-altered' SubClassOf 'Subtype of a disorder' + 'Infant-type hemispheric glioma ROS1-altered' SubClassOf 'part_of' some 'Infant-type hemispheric glioma' Class: http://www.orpha.net/ORDO/Orphanet_715704 Label(s): Infant-type hemispheric glioma MET-altered + 'Infant-type hemispheric glioma MET-altered' SubClassOf 'Subtype of a disorder' + 'Infant-type hemispheric glioma MET-altered' SubClassOf 'part_of' some 'Infant-type hemispheric glioma' Class: http://www.orpha.net/ORDO/Orphanet_716361 Label(s): Rare progressive generalized retinal disorder + 'Rare progressive generalized retinal disorder' SubClassOf 'Rare generalized retinal disorder' + 'Rare progressive generalized retinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716367 Label(s): Rare isolated non-progressive generalized retinal disorder + 'Rare isolated non-progressive generalized retinal disorder' SubClassOf 'Rare non-progressive generalized retinal disorder' + 'Rare isolated non-progressive generalized retinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_707786 Label(s): Thalassemia + 'Thalassemia' SubClassOf 'Hemoglobinopathy' + 'Thalassemia' SubClassOf 'Genetic hemoglobinopathy' + 'Thalassemia' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_708007 Label(s): Intramuscular fast-flow vascular anomaly + 'Intramuscular fast-flow vascular anomaly' SubClassOf 'Disorder' + 'Intramuscular fast-flow vascular anomaly' SubClassOf 'Malformation syndrome' + 'Intramuscular fast-flow vascular anomaly' SubClassOf 'part_of' some 'Peripheral fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_711327 Label(s): microtubule associated monooxygenase, calponin and LIM domain containing 1 + 'microtubule associated monooxygenase, calponin and LIM domain containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Epilepsy with auditory features' + 'microtubule associated monooxygenase, calponin and LIM domain containing 1' SubClassOf 'gene with protein product' + 'microtubule associated monooxygenase, calponin and LIM domain containing 1' SubClassOf 'has_chromosomal location' value "6q21" Class: http://www.orpha.net/ORDO/Orphanet_712549 Label(s): phenylalanyl-tRNA synthetase subunit alpha + 'phenylalanyl-tRNA synthetase subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Interstitial lung disease-brain calcification syndrome' + 'phenylalanyl-tRNA synthetase subunit alpha' SubClassOf 'has_chromosomal location' value "19p13.13" + 'phenylalanyl-tRNA synthetase subunit alpha' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_714160 Label(s): Presumed ocular histoplasmosis syndrome + 'Presumed ocular histoplasmosis syndrome' SubClassOf 'Disorder' + 'Presumed ocular histoplasmosis syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715463 Label(s): Low resistance capillary malformation + 'Low resistance capillary malformation' SubClassOf 'Group of disorders' + 'Low resistance capillary malformation' SubClassOf 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_716419 Label(s): Rare isolated non-progressive predominantly macular disorder + 'Rare isolated non-progressive predominantly macular disorder' SubClassOf 'Group of disorders' + 'Rare isolated non-progressive predominantly macular disorder' SubClassOf 'Rare non-progressive predominantly macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_717851 Label(s): Rare non-syndromic inflammatory bowel disease + 'Rare non-syndromic inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare non-syndromic inflammatory bowel disease' SubClassOf 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_716393 Label(s): Rare disorder with non-progressive generalized retinal disorder as a major feature + 'Rare disorder with non-progressive generalized retinal disorder as a major feature' SubClassOf 'Group of disorders' + 'Rare disorder with non-progressive generalized retinal disorder as a major feature' SubClassOf 'Rare non-progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_716364 Label(s): Rare non-progressive generalized retinal disorder + 'Rare non-progressive generalized retinal disorder' SubClassOf 'Group of disorders' + 'Rare non-progressive generalized retinal disorder' SubClassOf 'Rare generalized retinal disorder' + 'Rare non-progressive generalized retinal disorder' SubClassOf 'Rare genetic generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_716358 Label(s): Rare generalized retinal disorder + 'Rare generalized retinal disorder' SubClassOf 'Group of disorders' + 'Rare generalized retinal disorder' SubClassOf 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_716348 Label(s): Rare isolated progressive predominantly chorioretinal disorder + 'Rare isolated progressive predominantly chorioretinal disorder' SubClassOf 'Rare progressive predominantly chorioretinal disorder' + 'Rare isolated progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716304 Label(s): Rare progressive predominantly chorioretinal disorder + 'Rare progressive predominantly chorioretinal disorder' SubClassOf 'Rare predominantly chorioretinal disorder' + 'Rare progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716413 Label(s): Rare non-progressive predominantly macular disorder + 'Rare non-progressive predominantly macular disorder' SubClassOf 'Group of disorders' + 'Rare non-progressive predominantly macular disorder' SubClassOf 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_713478 Label(s): TBC1 domain family member 32 + 'TBC1 domain family member 32' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Orofaciodigital syndrome type 9' + 'TBC1 domain family member 32' SubClassOf 'has_chromosomal location' value "6q22.31" + 'TBC1 domain family member 32' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_716405 Label(s): Rare disorder with progressive generalized retinal disorder as a major feature + 'Rare disorder with progressive generalized retinal disorder as a major feature' SubClassOf 'Rare genetic progressive generalized retinal disorder' + 'Rare disorder with progressive generalized retinal disorder as a major feature' SubClassOf 'Rare progressive generalized retinal disorder' + 'Rare disorder with progressive generalized retinal disorder as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716213 Label(s): Rare isolated developmental choroidal disorder + 'Rare isolated developmental choroidal disorder' SubClassOf 'Developmental defect of the eye' + 'Rare isolated developmental choroidal disorder' SubClassOf 'Group of disorders' + 'Rare isolated developmental choroidal disorder' SubClassOf 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_716207 Label(s): Rare benign neoplastic choroidal disorder + 'Rare benign neoplastic choroidal disorder' SubClassOf 'Rare neoplastic choroidal disorder' + 'Rare benign neoplastic choroidal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_716204 Label(s): Rare neoplastic choroidal disorder + 'Rare neoplastic choroidal disorder' SubClassOf 'Rare choroidal disorder' + 'Rare neoplastic choroidal disorder' SubClassOf 'Group of disorders' + 'Rare neoplastic choroidal disorder' SubClassOf 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_716201 Label(s): Rare vascular choroidal disorder + 'Rare vascular choroidal disorder' SubClassOf 'Group of disorders' + 'Rare vascular choroidal disorder' SubClassOf 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_715143 Label(s): Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene + 'Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene' SubClassOf 'Disease' + 'Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene' SubClassOf 'part_of' some 'Beta-thalassemia' + 'Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_716410 Label(s): Rare isolated progressive generalized retinal disorder + 'Rare isolated progressive generalized retinal disorder' SubClassOf 'Group of disorders' + 'Rare isolated progressive generalized retinal disorder' SubClassOf 'Rare progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_715157 Label(s): Low oxygen affinity beta chain hemoglobin disease + 'Low oxygen affinity beta chain hemoglobin disease' SubClassOf 'Subtype of a disorder' + 'Low oxygen affinity beta chain hemoglobin disease' SubClassOf 'part_of' some 'Low oxygen affinity hemoglobin disease' Class: http://www.orpha.net/ORDO/Orphanet_716116 Label(s): Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome + 'Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715950 Label(s): Diffuse hemispheric glioma-H3 G34-mutant + 'Diffuse hemispheric glioma-H3 G34-mutant' SubClassOf 'Disorder' + 'Diffuse hemispheric glioma-H3 G34-mutant' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Diffuse hemispheric glioma-H3 G34-mutant' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_718799 Label(s): coat protein complex I subunit gamma 1 + 'coat protein complex I subunit gamma 1' SubClassOf 'has_chromosomal location' value "3q21.3" + 'coat protein complex I subunit gamma 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to COPG1 deficiency' + 'coat protein complex I subunit gamma 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_716438 Label(s): Rare progressive vitreoretinopathy + 'Rare progressive vitreoretinopathy' SubClassOf 'Vitreoretinopathy' + 'Rare progressive vitreoretinopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_714041 Label(s): Straatsma syndrome + 'Straatsma syndrome' SubClassOf 'Disease' + 'Straatsma syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714070 Label(s): Incomplete congenital stationary night blindness, Schubert-Bornschein type + 'Incomplete congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'Subtype of a disorder' + 'Incomplete congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'part_of' some 'Congenital stationary night blindness, Schubert-Bornschein type' Class: http://www.orpha.net/ORDO/Orphanet_718004 Label(s): BACH transcriptional regulator 2 + 'BACH transcriptional regulator 2' SubClassOf 'gene with protein product' + 'BACH transcriptional regulator 2' SubClassOf 'has_chromosomal location' value "6q15" + 'BACH transcriptional regulator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715862 Label(s): Melanocytoma of the optic disc and optic nerve + 'Melanocytoma of the optic disc and optic nerve' SubClassOf 'Disease' + 'Melanocytoma of the optic disc and optic nerve' SubClassOf 'Disorder' + 'Melanocytoma of the optic disc and optic nerve' SubClassOf 'part_of' some 'Rare isolated non-progressive predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_715855 Label(s): Acute exudative polymorphous vitelliform maculopathy + 'Acute exudative polymorphous vitelliform maculopathy' SubClassOf 'part_of' some 'Rare isolated progressive predominantly macular disorder' + 'Acute exudative polymorphous vitelliform maculopathy' SubClassOf 'Disorder' + 'Acute exudative polymorphous vitelliform maculopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715850 Label(s): Paraneoplastic acute exudative polymorphous vitelliform maculopathy + 'Paraneoplastic acute exudative polymorphous vitelliform maculopathy' SubClassOf 'part_of' some 'Acute exudative polymorphous vitelliform maculopathy' + 'Paraneoplastic acute exudative polymorphous vitelliform maculopathy' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_716742 Label(s): Congenital myasthenic syndrome with kinetic defect + 'Congenital myasthenic syndrome with kinetic defect' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome with kinetic defect' SubClassOf 'Postsynaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_708975 Label(s): roundabout guidance receptor 4 + 'roundabout guidance receptor 4' SubClassOf 'gene with protein product' + 'roundabout guidance receptor 4' SubClassOf 'has_chromosomal location' value "11q24.2" + 'roundabout guidance receptor 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial bicuspid aortic valve' Class: http://www.orpha.net/ORDO/Orphanet_708969 Label(s): calaxin + 'calaxin' SubClassOf 'has_chromosomal location' value "8q11.21" + 'calaxin' SubClassOf 'gene with protein product' + 'calaxin' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_708966 Label(s): dynein assembly factor with WD repeats 1 + 'dynein assembly factor with WD repeats 1' SubClassOf 'has_chromosomal location' value "2q36.3" + 'dynein assembly factor with WD repeats 1' SubClassOf 'gene with protein product' + 'dynein assembly factor with WD repeats 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_708964 Label(s): bromodomain and WD repeat domain containing 1 + 'bromodomain and WD repeat domain containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'bromodomain and WD repeat domain containing 1' SubClassOf 'has_chromosomal location' value "21q22.2" + 'bromodomain and WD repeat domain containing 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_708960 Label(s): dynein axonemal heavy chain 7 + 'dynein axonemal heavy chain 7' SubClassOf 'gene with protein product' + 'dynein axonemal heavy chain 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'dynein axonemal heavy chain 7' SubClassOf 'has_chromosomal location' value "2q32.3" Class: http://www.orpha.net/ORDO/Orphanet_708946 Label(s): dynein axonemal light intermediate chain 1 + 'dynein axonemal light intermediate chain 1' SubClassOf 'gene with protein product' + 'dynein axonemal light intermediate chain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'dynein axonemal light intermediate chain 1' SubClassOf 'has_chromosomal location' value "1p34.3" Class: http://www.orpha.net/ORDO/Orphanet_708944 Label(s): tektin 3 + 'tektin 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'tektin 3' SubClassOf 'gene with protein product' + 'tektin 3' SubClassOf 'has_chromosomal location' value "17p12" Class: http://www.orpha.net/ORDO/Orphanet_708936 Label(s): protein phosphatase 2 regulatory subunit B''gamma + 'protein phosphatase 2 regulatory subunit B''gamma' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia' + 'protein phosphatase 2 regulatory subunit B''gamma' SubClassOf 'gene with protein product' + 'protein phosphatase 2 regulatory subunit B''gamma' SubClassOf 'disease-causing germline mutation(s) in' some 'XY type gonadal dysgenesis-associated anomalies syndrome' + 'protein phosphatase 2 regulatory subunit B''gamma' SubClassOf 'has_chromosomal location' value "14q13.2" Class: http://www.orpha.net/ORDO/Orphanet_714154 Label(s): Idiopathic multifocal choroiditis + 'Idiopathic multifocal choroiditis' SubClassOf 'Disease' + 'Idiopathic multifocal choroiditis' SubClassOf 'Disorder' + 'Idiopathic multifocal choroiditis' SubClassOf 'part_of' some 'Rare inflammatory choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_714164 Label(s): Acute posterior multifocal placoid pigment epitheliopathy + 'Acute posterior multifocal placoid pigment epitheliopathy' SubClassOf 'Disease' + 'Acute posterior multifocal placoid pigment epitheliopathy' SubClassOf 'Disorder' + 'Acute posterior multifocal placoid pigment epitheliopathy' SubClassOf 'part_of' some 'Rare inflammatory choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_715762 Label(s): Unifocal fast-flow vascular malformation + 'Unifocal fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation' + 'Unifocal fast-flow vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715724 Label(s): Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype + 'Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype' SubClassOf 'Disorder' + 'Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_716889 Label(s): Congenital myasthenic syndromes due to defective axonal transport + 'Congenital myasthenic syndromes due to defective axonal transport' SubClassOf 'Presynaptic congenital myasthenic syndromes' + 'Congenital myasthenic syndromes due to defective axonal transport' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_709032 Label(s): ribonucleotide reductase catalytic subunit M1 + 'ribonucleotide reductase catalytic subunit M1' SubClassOf 'gene with protein product' + 'ribonucleotide reductase catalytic subunit M1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive progressive external ophthalmoplegia' + 'ribonucleotide reductase catalytic subunit M1' SubClassOf 'has_chromosomal location' value "11p15.4" Class: http://www.orpha.net/ORDO/Orphanet_708895 Label(s): Tetrahydrobiopterin-unresponsive phenylketonuria + 'Tetrahydrobiopterin-unresponsive phenylketonuria' SubClassOf 'Subtype of a disorder' + 'Tetrahydrobiopterin-unresponsive phenylketonuria' SubClassOf 'part_of' some 'Phenylketonuria' Class: http://www.orpha.net/ORDO/Orphanet_708881 Label(s): Phenylalanine hydroxylase deficiency + 'Phenylalanine hydroxylase deficiency' SubClassOf 'Disorder of phenylalanine metabolism' + 'Phenylalanine hydroxylase deficiency' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715697 Label(s): Infant-type hemispheric glioma ALK-altered + 'Infant-type hemispheric glioma ALK-altered' SubClassOf 'Subtype of a disorder' + 'Infant-type hemispheric glioma ALK-altered' SubClassOf 'part_of' some 'Infant-type hemispheric glioma' Class: http://www.orpha.net/ORDO/Orphanet_715645 Label(s): CXXC repeat containing interactor of PDZ3 domain + 'CXXC repeat containing interactor of PDZ3 domain' SubClassOf 'gene with protein product' + 'CXXC repeat containing interactor of PDZ3 domain' SubClassOf 'has_chromosomal location' value "2p21" + 'CXXC repeat containing interactor of PDZ3 domain' SubClassOf 'disease-causing germline mutation(s) in' some 'Rothmund-Thomson syndrome type 3' Class: http://www.orpha.net/ORDO/Orphanet_715640 Label(s): Rothmund-Thomson syndrome type 3 + 'Rothmund-Thomson syndrome type 3' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_715633 Label(s): replication factor C subunit 4 + 'replication factor C subunit 4' SubClassOf 'gene with protein product' + 'replication factor C subunit 4' SubClassOf 'has_chromosomal location' value "3q27.3" + 'replication factor C subunit 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_716903 Label(s): Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' SubClassOf 'Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' + 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_715331 Label(s): Paraspinal arteriovenous malformation + 'Paraspinal arteriovenous malformation' SubClassOf 'Morphological anomaly' + 'Paraspinal arteriovenous malformation' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Paraspinal arteriovenous malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715623 Label(s): Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'Disorder' + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714090 Label(s): Congenital stationary night blindness, Schubert-Bornschein type + 'Congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'Disorder' + 'Congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'Disease' + 'Congenital stationary night blindness, Schubert-Bornschein type' SubClassOf 'part_of' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_708684 Label(s): Eosinophilic cystitis + 'Eosinophilic cystitis' SubClassOf 'Disorder' + 'Eosinophilic cystitis' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_708678 Label(s): Rap guanine nucleotide exchange factor 2 + 'Rap guanine nucleotide exchange factor 2' SubClassOf 'has_chromosomal location' value "4q32.1" + 'Rap guanine nucleotide exchange factor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial adult myoclonic epilepsy' + 'Rap guanine nucleotide exchange factor 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_708651 Label(s): Phosphoribosylformylglycinamidine synthase deficiency + 'Phosphoribosylformylglycinamidine synthase deficiency' SubClassOf 'Disorder' + 'Phosphoribosylformylglycinamidine synthase deficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714429 Label(s): Pseudo-TORCH syndrome type 3 + 'Pseudo-TORCH syndrome type 3' SubClassOf 'Disease' + 'Pseudo-TORCH syndrome type 3' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_707647 Label(s): FOS like 2, AP-1 transcription factor subunit + 'FOS like 2, AP-1 transcription factor subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome' + 'FOS like 2, AP-1 transcription factor subunit' SubClassOf 'has_chromosomal location' value "2p23.2" + 'FOS like 2, AP-1 transcription factor subunit' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_717588 Label(s): Localized intravascular coagulation + 'Localized intravascular coagulation' SubClassOf 'Disorder' + 'Localized intravascular coagulation' SubClassOf 'Particular clinical situation in a disease or syndrome' + 'Localized intravascular coagulation' SubClassOf 'part_of' some 'Coagulation abnormality associated with a vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_715466 Label(s): Syndromic low resistance capillary malformation + 'Syndromic low resistance capillary malformation' SubClassOf 'Low resistance capillary malformation' + 'Syndromic low resistance capillary malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715460 Label(s): Syndromic geographic pattern capillary malformation + 'Syndromic geographic pattern capillary malformation' SubClassOf 'Geographic pattern capillary malformation' + 'Syndromic geographic pattern capillary malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715453 Label(s): Reticulated capillary malformation + 'Reticulated capillary malformation' SubClassOf 'Rare capillary malformation' + 'Reticulated capillary malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715446 Label(s): Geographic pattern capillary malformation + 'Geographic pattern capillary malformation' SubClassOf 'Group of disorders' + 'Geographic pattern capillary malformation' SubClassOf 'Rare capillary malformation' Class: http://www.orpha.net/ORDO/Orphanet_716765 Label(s): Slow-channel congenital myasthenic syndrome + 'Slow-channel congenital myasthenic syndrome' SubClassOf 'Congenital myasthenic syndrome with kinetic defect' + 'Slow-channel congenital myasthenic syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_718255 Label(s): Rare Y-linked non-syndromic sensorineural deafness type DFNY + 'Rare Y-linked non-syndromic sensorineural deafness type DFNY' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_717330 Label(s): Rare genetic isolated non-progressive predominantly macular disorder + 'Rare genetic isolated non-progressive predominantly macular disorder' SubClassOf 'Group of disorders' + 'Rare genetic isolated non-progressive predominantly macular disorder' SubClassOf 'Rare genetic non-progressive predominantly macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_717336 Label(s): Rare genetic isolated progressive predominantly macular disorder + 'Rare genetic isolated progressive predominantly macular disorder' SubClassOf 'Rare genetic progressive predominantly macular disorder' + 'Rare genetic isolated progressive predominantly macular disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717345 Label(s): Rare genetic isolated progressive retinal vasculopathy + 'Rare genetic isolated progressive retinal vasculopathy' SubClassOf 'Rare genetic progressive retinal vasculopathy' + 'Rare genetic isolated progressive retinal vasculopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717348 Label(s): Rare genetic disorder with progressive vasculopathy disorder as a major feature + 'Rare genetic disorder with progressive vasculopathy disorder as a major feature' SubClassOf 'Rare genetic progressive retinal vasculopathy' + 'Rare genetic disorder with progressive vasculopathy disorder as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_714101 Label(s): Acute idiopathic maculopathy + 'Acute idiopathic maculopathy' SubClassOf 'Disorder' + 'Acute idiopathic maculopathy' SubClassOf 'part_of' some 'Rare isolated non-progressive predominantly macular disorder' + 'Acute idiopathic maculopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715359 Label(s): Isolated low resistance capillary malformation + 'Isolated low resistance capillary malformation' SubClassOf 'Morphological anomaly' + 'Isolated low resistance capillary malformation' SubClassOf 'part_of' some 'Low resistance capillary malformation' + 'Isolated low resistance capillary malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715353 Label(s): Isolated reticulated capillary malformation + 'Isolated reticulated capillary malformation' SubClassOf 'Disorder' + 'Isolated reticulated capillary malformation' SubClassOf 'part_of' some 'Reticulated capillary malformation' + 'Isolated reticulated capillary malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_715345 Label(s): Isolated geographic pattern capillary malformation + 'Isolated geographic pattern capillary malformation' SubClassOf 'Disorder' + 'Isolated geographic pattern capillary malformation' SubClassOf 'part_of' some 'Geographic pattern capillary malformation' + 'Isolated geographic pattern capillary malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_715339 Label(s): Multifocal peripheral venous malformation + 'Multifocal peripheral venous malformation' SubClassOf 'Group of disorders' + 'Multifocal peripheral venous malformation' SubClassOf 'Slow-flow malformation, venous type' Class: http://www.orpha.net/ORDO/Orphanet_715334 Label(s): Unifocal peripheral venous malformation + 'Unifocal peripheral venous malformation' SubClassOf 'Slow-flow malformation, venous type' + 'Unifocal peripheral venous malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715326 Label(s): Spinal epidural arteriovenous malformation + 'Spinal epidural arteriovenous malformation' SubClassOf 'Disorder' + 'Spinal epidural arteriovenous malformation' SubClassOf 'Morphological anomaly' + 'Spinal epidural arteriovenous malformation' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_715318 Label(s): Acquired intracranial dural arteriovenous fistula + 'Acquired intracranial dural arteriovenous fistula' SubClassOf 'Disorder' + 'Acquired intracranial dural arteriovenous fistula' SubClassOf 'Disease' + 'Acquired intracranial dural arteriovenous fistula' SubClassOf 'part_of' some 'Intracranial fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_715307 Label(s): Acquired spinal dural arteriovenous fistula + 'Acquired spinal dural arteriovenous fistula' SubClassOf 'Disorder' + 'Acquired spinal dural arteriovenous fistula' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Acquired spinal dural arteriovenous fistula' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_717998 Label(s): Wnt family member 2B + 'Wnt family member 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' + 'Wnt family member 2B' SubClassOf 'gene with protein product' + 'Wnt family member 2B' SubClassOf 'has_chromosomal location' value "1p13.2" Class: http://www.orpha.net/ORDO/Orphanet_717996 Label(s): anterior gradient 2, protein disulphide isomerase family member + 'anterior gradient 2, protein disulphide isomerase family member' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'AGR2-related infantile-onset inflammatory bowel disease' + 'anterior gradient 2, protein disulphide isomerase family member' SubClassOf 'gene with protein product' + 'anterior gradient 2, protein disulphide isomerase family member' SubClassOf 'has_chromosomal location' value "7p21.1" Class: http://www.orpha.net/ORDO/Orphanet_718105 Label(s): zinc finger protein 292 + 'zinc finger protein 292' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger protein 292' SubClassOf 'has_chromosomal location' value "6q14.3" + 'zinc finger protein 292' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_714698 Label(s): Arteriovenous malformation of the thoraco-abdominal-pelvic cavity + 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' SubClassOf 'Unifocal fast-flow vascular malformation' + 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715284 Label(s): Spinal cord arteriovenous malformation + 'Spinal cord arteriovenous malformation' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Spinal cord arteriovenous malformation' SubClassOf 'Disorder' + 'Spinal cord arteriovenous malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_715744 Label(s): Fast-flow vascular malformation of the central nervous system + 'Fast-flow vascular malformation of the central nervous system' SubClassOf 'Unifocal fast-flow vascular malformation' + 'Fast-flow vascular malformation of the central nervous system' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_715258 Label(s): FA core complex associated protein 100 + 'FA core complex associated protein 100' SubClassOf 'has_chromosomal location' value "17q25.3" + 'FA core complex associated protein 100' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Fanconi anemia' + 'FA core complex associated protein 100' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_718079 Label(s): Combined immunodeficiency with normal B cells and normal immunoglubulins + 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Disorder' + 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_708046 Label(s): Peripheral arteriovenous malformation + 'Peripheral arteriovenous malformation' SubClassOf 'Malformation syndrome' + 'Peripheral arteriovenous malformation' SubClassOf 'Disorder' + 'Peripheral arteriovenous malformation' SubClassOf 'part_of' some 'Peripheral fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_708051 Label(s): Peripheral congenital arteriovenous fistula + 'Peripheral congenital arteriovenous fistula' SubClassOf 'Malformation syndrome' + 'Peripheral congenital arteriovenous fistula' SubClassOf 'part_of' some 'Peripheral fast-flow vascular malformation' + 'Peripheral congenital arteriovenous fistula' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_718053 Label(s): Combined immunodeficiency with low CD4 and normal CD8 + 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Disorder' + 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_718047 Label(s): Combined immunodeficiency due to polymerase delta deficiency + 'Combined immunodeficiency due to polymerase delta deficiency' SubClassOf 'Disease' + 'Combined immunodeficiency due to polymerase delta deficiency' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_718037 Label(s): Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency + 'Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency' SubClassOf 'Disease' + 'Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717884 Label(s): Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome + 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' SubClassOf 'Disorder' + 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_718017 Label(s): Combined immunodeficiency due to COPG1 deficiency + 'Combined immunodeficiency due to COPG1 deficiency' SubClassOf 'Disorder' + 'Combined immunodeficiency due to COPG1 deficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_717874 Label(s): Rare inborn error of metabolism with inflammatory bowel disease + 'Rare inborn error of metabolism with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' + 'Rare inborn error of metabolism with inflammatory bowel disease' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717871 Label(s): Rare systemic or rheumatologic diseases with inflammatory bowel disease + 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_718008 Label(s): caspase recruitment domain family member 8 + 'caspase recruitment domain family member 8' SubClassOf 'has_chromosomal location' value "19q13.33" + 'caspase recruitment domain family member 8' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'CARD8-related inflammatory bowel disease' + 'caspase recruitment domain family member 8' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_718006 Label(s): syntaxin binding protein 3 + 'syntaxin binding protein 3' SubClassOf 'has_chromosomal location' value "1p13.3" + 'syntaxin binding protein 3' SubClassOf 'gene with protein product' + 'syntaxin binding protein 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717868 Label(s): Rare skin disease with inflammatory bowel disease + 'Rare skin disease with inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare skin disease with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_718000 Label(s): secretagogin, EF-hand calcium binding protein + 'secretagogin, EF-hand calcium binding protein' SubClassOf 'gene with protein product' + 'secretagogin, EF-hand calcium binding protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'SCGN-related severe early-onset hereditary ulcerative colitis' + 'secretagogin, EF-hand calcium binding protein' SubClassOf 'has_chromosomal location' value "6p22.2" Class: http://www.orpha.net/ORDO/Orphanet_717862 Label(s): Rare disorder with inflammatory bowel disease + 'Rare disorder with inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare disorder with inflammatory bowel disease' SubClassOf 'Rare inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_717854 Label(s): Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome + 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' SubClassOf 'Disorder' + 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717846 Label(s): Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717841 Label(s): Global developmental delay-facial dysmorphism-atrial septal defect syndrome + 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717830 Label(s): 2p14p15 microdeletion syndrome + '2p14p15 microdeletion syndrome' SubClassOf 'Malformation syndrome' + '2p14p15 microdeletion syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717823 Label(s): Global developmental delay-recurrent infections-facial dysmorphism syndrome + 'Global developmental delay-recurrent infections-facial dysmorphism syndrome' SubClassOf 'Disorder' + 'Global developmental delay-recurrent infections-facial dysmorphism syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717812 Label(s): 12q24.31 microdeletion syndrome + '12q24.31 microdeletion syndrome' SubClassOf 'Malformation syndrome' + '12q24.31 microdeletion syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714709 Label(s): Mediastinal arteriovenous malformation + 'Mediastinal arteriovenous malformation' SubClassOf 'Disorder' + 'Mediastinal arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' + 'Mediastinal arteriovenous malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_714715 Label(s): Pelvic arteriovenous malformation + 'Pelvic arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' + 'Pelvic arteriovenous malformation' SubClassOf 'Morphological anomaly' + 'Pelvic arteriovenous malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717585 Label(s): Kasabach-Merritt-like phenomenon + 'Kasabach-Merritt-like phenomenon' SubClassOf 'Particular clinical situation in a disease or syndrome' + 'Kasabach-Merritt-like phenomenon' SubClassOf 'part_of' some 'Coagulation abnormality associated with a vascular anomaly' + 'Kasabach-Merritt-like phenomenon' SubClassOf 'Disorder' + 'Kasabach-Merritt-like phenomenon' SubClassOf 'part_of' some 'Rare hemorrhagic disorder' Class: http://www.orpha.net/ORDO/Orphanet_714734 Label(s): Sinus pericranii + 'Sinus pericranii' SubClassOf 'Morphological anomaly' + 'Sinus pericranii' SubClassOf 'Disorder' + 'Sinus pericranii' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' Class: http://www.orpha.net/ORDO/Orphanet_714737 Label(s): Diffuse capillary malformation with overgrowth + 'Diffuse capillary malformation with overgrowth' SubClassOf 'Morphological anomaly' + 'Diffuse capillary malformation with overgrowth' SubClassOf 'part_of' some 'Reticulated capillary malformation' + 'Diffuse capillary malformation with overgrowth' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717598 Label(s): Lymphatic-venous malformation + 'Lymphatic-venous malformation' SubClassOf 'Disorder' + 'Lymphatic-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Lymphatic-venous malformation' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715154 Label(s): Low oxygen affinity alpha chain hemoglobin disease + 'Low oxygen affinity alpha chain hemoglobin disease' SubClassOf 'Subtype of a disorder' + 'Low oxygen affinity alpha chain hemoglobin disease' SubClassOf 'part_of' some 'Low oxygen affinity hemoglobin disease' Class: http://www.orpha.net/ORDO/Orphanet_715140 Label(s): Hemoglobin Lepore-beta-thalassemia major + 'Hemoglobin Lepore-beta-thalassemia major' SubClassOf 'part_of' some 'Hemoglobin Lepore-beta-thalassemia syndrome' + 'Hemoglobin Lepore-beta-thalassemia major' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_715135 Label(s): Hemoglobin Lepore-beta-thalassemia intermedia + 'Hemoglobin Lepore-beta-thalassemia intermedia' SubClassOf 'Subtype of a disorder' + 'Hemoglobin Lepore-beta-thalassemia intermedia' SubClassOf 'part_of' some 'Hemoglobin Lepore-beta-thalassemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_708129 Label(s): Autosomal recessive ACTN2-related distal myopathy + 'Autosomal recessive ACTN2-related distal myopathy' SubClassOf 'Disorder' + 'Autosomal recessive ACTN2-related distal myopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715128 Label(s): Hemoglobin E-beta-thalassemia major + 'Hemoglobin E-beta-thalassemia major' SubClassOf 'Subtype of a disorder' + 'Hemoglobin E-beta-thalassemia major' SubClassOf 'part_of' some 'Hemoglobin E-beta-thalassemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715125 Label(s): Hemoglobin E-beta-thalassemia intermedia + 'Hemoglobin E-beta-thalassemia intermedia' SubClassOf 'Subtype of a disorder' + 'Hemoglobin E-beta-thalassemia intermedia' SubClassOf 'part_of' some 'Hemoglobin E-beta-thalassemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715120 Label(s): Hyperpituitarism + 'Hyperpituitarism' SubClassOf 'Group of disorders' + 'Hyperpituitarism' SubClassOf 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_708166 Label(s): Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'Malformation syndrome' + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_708178 Label(s): Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome + 'Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717795 Label(s): Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome + 'Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome' SubClassOf 'Disease' + 'Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717646 Label(s): Congenital midnasal stenosis + 'Congenital midnasal stenosis' SubClassOf 'Disorder' + 'Congenital midnasal stenosis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_708203 Label(s): Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome + 'Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome' SubClassOf 'Disorder' + 'Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_708208 Label(s): Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome + 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' SubClassOf 'Malformation syndrome' + 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715025 Label(s): Spinal fast-flow vascular malformation + 'Spinal fast-flow vascular malformation' SubClassOf 'Group of disorders' + 'Spinal fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_714829 Label(s): Immune checkpoint inhibitor-induced myositis + 'Immune checkpoint inhibitor-induced myositis' SubClassOf 'Disorder' + 'Immune checkpoint inhibitor-induced myositis' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_714806 Label(s): Multifocal sporadic venous malformation + 'Multifocal sporadic venous malformation' SubClassOf 'part_of' some 'Multifocal peripheral venous malformation' + 'Multifocal sporadic venous malformation' SubClassOf 'Morphological anomaly' + 'Multifocal sporadic venous malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717638 Label(s): Aquagenic urticaria + 'Aquagenic urticaria' SubClassOf 'Disease' + 'Aquagenic urticaria' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717619 Label(s): Capillary-lymphatic-venous malformation + 'Capillary-lymphatic-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-lymphatic-venous malformation' SubClassOf 'Disorder' + 'Capillary-lymphatic-venous malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_708171 Label(s): Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'Malformation syndrome' + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717611 Label(s): Capillary-venous malformation + 'Capillary-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-venous malformation' SubClassOf 'Disorder' + 'Capillary-venous malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_717605 Label(s): Capillary-lymphatic malformation + 'Capillary-lymphatic malformation' SubClassOf 'Morphological anomaly' + 'Capillary-lymphatic malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-lymphatic malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717784 Label(s): Partial trisomy 12q syndrome + 'Partial trisomy 12q syndrome' SubClassOf 'Malformation syndrome' + 'Partial trisomy 12q syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_708133 Label(s): Autosomal dominant ACTN2-related distal myopathy + 'Autosomal dominant ACTN2-related distal myopathy' SubClassOf 'Disorder' + 'Autosomal dominant ACTN2-related distal myopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_707993 Label(s): Methemoglobinemia-related cyanosis + 'Methemoglobinemia-related cyanosis' SubClassOf 'Rare hematologic disease' + 'Methemoglobinemia-related cyanosis' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_708126 Label(s): DNAJB6-related distal myopathy + 'DNAJB6-related distal myopathy' SubClassOf 'Disorder' + 'DNAJB6-related distal myopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_708123 Label(s): Autosomal dominant distal nebulin myopathy + 'Autosomal dominant distal nebulin myopathy' SubClassOf 'Disease' + 'Autosomal dominant distal nebulin myopathy' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_707983 Label(s): Early-onset autosomal recessive TTN-related distal myopathy + 'Early-onset autosomal recessive TTN-related distal myopathy' SubClassOf 'Disease' + 'Early-onset autosomal recessive TTN-related distal myopathy' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715694 Label(s): Infant-type hemispheric glioma NTRK-altered + 'Infant-type hemispheric glioma NTRK-altered' SubClassOf 'Subtype of a disorder' + 'Infant-type hemispheric glioma NTRK-altered' SubClassOf 'part_of' some 'Infant-type hemispheric glioma' Class: http://www.orpha.net/ORDO/Orphanet_707944 Label(s): Peripheral fast-flow vascular malformation + 'Peripheral fast-flow vascular malformation' SubClassOf 'Group of disorders' + 'Peripheral fast-flow vascular malformation' SubClassOf 'Unifocal fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_707937 Label(s): Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome + 'Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome' SubClassOf 'Disorder' + 'Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715147 Label(s): Low oxygen affinity hemoglobin disease + 'Low oxygen affinity hemoglobin disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Low oxygen affinity hemoglobin disease' SubClassOf 'Disorder' + 'Low oxygen affinity hemoglobin disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' + 'Low oxygen affinity hemoglobin disease' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715845 Label(s): Idiopathic Acute exudative polymorphous vitelliform maculopathy + 'Idiopathic Acute exudative polymorphous vitelliform maculopathy' SubClassOf 'part_of' some 'Acute exudative polymorphous vitelliform maculopathy' + 'Idiopathic Acute exudative polymorphous vitelliform maculopathy' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_714785 Label(s): Unifocal sporadic venous malformation + 'Unifocal sporadic venous malformation' SubClassOf 'Disorder' + 'Unifocal sporadic venous malformation' SubClassOf 'Morphological anomaly' + 'Unifocal sporadic venous malformation' SubClassOf 'part_of' some 'Unifocal peripheral venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_715923 Label(s): Intraosseous venous malformation + 'Intraosseous venous malformation' SubClassOf 'part_of' some 'Unifocal peripheral venous malformation' + 'Intraosseous venous malformation' SubClassOf 'Disorder' + 'Intraosseous venous malformation' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_717593 Label(s): Disseminated intravascular coagulation associated with a vascular anomaly + 'Disseminated intravascular coagulation associated with a vascular anomaly' SubClassOf 'Disorder' + 'Disseminated intravascular coagulation associated with a vascular anomaly' SubClassOf 'part_of' some 'Coagulation abnormality associated with a vascular anomaly' + 'Disseminated intravascular coagulation associated with a vascular anomaly' SubClassOf 'Particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714726 Label(s): Retroperitoneal arteriovenous malformation + 'Retroperitoneal arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' + 'Retroperitoneal arteriovenous malformation' SubClassOf 'Morphological anomaly' + 'Retroperitoneal arteriovenous malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717582 Label(s): Coagulation abnormality associated with a vascular anomaly + 'Coagulation abnormality associated with a vascular anomaly' SubClassOf 'Rare vascular anomaly' + 'Coagulation abnormality associated with a vascular anomaly' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_714702 Label(s): Abdominal arteriovenous malformation + 'Abdominal arteriovenous malformation' SubClassOf 'part_of' some 'Arteriovenous malformation of the thoraco-abdominal-pelvic cavity' + 'Abdominal arteriovenous malformation' SubClassOf 'Morphological anomaly' + 'Abdominal arteriovenous malformation' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_717564 Label(s): Dural sinus malformation without arteriovenous shunt + 'Dural sinus malformation without arteriovenous shunt' SubClassOf 'Disorder' + 'Dural sinus malformation without arteriovenous shunt' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'Dural sinus malformation without arteriovenous shunt' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717865 Label(s): Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease + 'Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_718002 Label(s): ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 + 'ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1' SubClassOf 'gene with protein product' + 'ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1' SubClassOf 'has_chromosomal location' value "2q35" + 'ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717877 Label(s): Rare miscellaneous disease with inflammatory bowel disease + 'Rare miscellaneous disease with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' + 'Rare miscellaneous disease with inflammatory bowel disease' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_708043 Label(s): Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples + 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' SubClassOf 'Disorder' + 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_708036 Label(s): Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth + 'Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth' SubClassOf 'Disorder' + 'Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717757 Label(s): Rare immune disease with inflammatory bowel disease + 'Rare immune disease with inflammatory bowel disease' SubClassOf 'Group of disorders' + 'Rare immune disease with inflammatory bowel disease' SubClassOf 'Rare disorder with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_718072 Label(s): Combined immunodeficiency with low CD8 and normal CD4 + 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Disease' + 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715292 Label(s): Brain pial arteriovenous fistula + 'Brain pial arteriovenous fistula' SubClassOf 'Disease' + 'Brain pial arteriovenous fistula' SubClassOf 'part_of' some 'Intracranial fast-flow vascular malformation' + 'Brain pial arteriovenous fistula' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714652 Label(s): PCDH19 clustering epilepsy + 'PCDH19 clustering epilepsy' SubClassOf 'Disorder' + 'PCDH19 clustering epilepsy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_715721 Label(s): High-grade astrocytoma with piloid features + 'High-grade astrocytoma with piloid features' SubClassOf 'Disease' + 'High-grade astrocytoma with piloid features' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'High-grade astrocytoma with piloid features' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_707792 Label(s): Unstable gamma globin chain variant disease + 'Unstable gamma globin chain variant disease' SubClassOf 'Disorder' + 'Unstable gamma globin chain variant disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Unstable gamma globin chain variant disease' SubClassOf 'Disease' + 'Unstable gamma globin chain variant disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_707789 Label(s): Unstable alpha globin chain variant disease + 'Unstable alpha globin chain variant disease' SubClassOf 'Disease' + 'Unstable alpha globin chain variant disease' SubClassOf 'part_of' some 'Alpha-thalassemia and related disorders' + 'Unstable alpha globin chain variant disease' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_715302 Label(s): Spinal pial arteriovenous fistula + 'Spinal pial arteriovenous fistula' SubClassOf 'Disorder' + 'Spinal pial arteriovenous fistula' SubClassOf 'Disease' + 'Spinal pial arteriovenous fistula' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_717342 Label(s): Rare genetic progressive retinal vasculopathy + 'Rare genetic progressive retinal vasculopathy' SubClassOf 'Group of disorders' + 'Rare genetic progressive retinal vasculopathy' SubClassOf 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_717339 Label(s): Rare genetic non-progressive retinal vasculopathy + 'Rare genetic non-progressive retinal vasculopathy' SubClassOf 'Group of disorders' + 'Rare genetic non-progressive retinal vasculopathy' SubClassOf 'Rare genetic retinal vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_717333 Label(s): Rare genetic progressive predominantly macular disorder + 'Rare genetic progressive predominantly macular disorder' SubClassOf 'Group of disorders' + 'Rare genetic progressive predominantly macular disorder' SubClassOf 'Rare genetic macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_717327 Label(s): Rare genetic non-progressive predominantly macular disorder + 'Rare genetic non-progressive predominantly macular disorder' SubClassOf 'Group of disorders' + 'Rare genetic non-progressive predominantly macular disorder' SubClassOf 'Rare genetic macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_717324 Label(s): Rare genetic isolated progressive generalized retinal disorder + 'Rare genetic isolated progressive generalized retinal disorder' SubClassOf 'Rare genetic progressive generalized retinal disorder' + 'Rare genetic isolated progressive generalized retinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717321 Label(s): Rare genetic progressive generalized retinal disorder + 'Rare genetic progressive generalized retinal disorder' SubClassOf 'Group of disorders' + 'Rare genetic progressive generalized retinal disorder' SubClassOf 'Rare genetic generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_717317 Label(s): Rare genetic isolated progressive predominantly chorioretinal disorder + 'Rare genetic isolated progressive predominantly chorioretinal disorder' SubClassOf 'Rare genetic progressive predominantly chorioretinal disorder' + 'Rare genetic isolated progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717314 Label(s): Rare genetic progressive predominantly chorioretinal disorder + 'Rare genetic progressive predominantly chorioretinal disorder' SubClassOf 'Rare genetic predominantly chorioretinal disorder' + 'Rare genetic progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_717311 Label(s): Rare genetic isolated non-progressive predominantly chorioretinal disorder + 'Rare genetic isolated non-progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' + 'Rare genetic isolated non-progressive predominantly chorioretinal disorder' SubClassOf 'Rare genetic non-progressive predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_717308 Label(s): Rare genetic non-progressive predominantly chorioretinal disorder + 'Rare genetic non-progressive predominantly chorioretinal disorder' SubClassOf 'Rare genetic predominantly chorioretinal disorder' + 'Rare genetic non-progressive predominantly chorioretinal disorder' SubClassOf 'Group of disorders' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_499821 Label(s): ATP binding cassette subfamily A member 7 + 'ATP binding cassette subfamily A member 7' SubClassOf 'has_chromosomal location' value "19p13.3" + 'ATP binding cassette subfamily A member 7' SubClassOf 'candidate gene tested in' some 'Early-onset autosomal dominant Alzheimer disease' + 'ATP binding cassette subfamily A member 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_601728 Label(s): phosphodiesterase 2A + 'phosphodiesterase 2A' SubClassOf 'has_chromosomal location' value "11q13.4" + 'phosphodiesterase 2A' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile convulsions and choreoathetosis' + 'phosphodiesterase 2A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_293311 Label(s): cyclin dependent kinase inhibitor 2C + 'cyclin dependent kinase inhibitor 2C' SubClassOf 'gene with protein product' + 'cyclin dependent kinase inhibitor 2C' SubClassOf 'candidate gene tested in' some 'Multiple endocrine neoplasia type 1' + 'cyclin dependent kinase inhibitor 2C' SubClassOf 'has_chromosomal location' value "1p32.3" Class: http://www.orpha.net/ORDO/Orphanet_293293 Label(s): cyclin dependent kinase inhibitor 1A + 'cyclin dependent kinase inhibitor 1A' SubClassOf 'candidate gene tested in' some 'Multiple endocrine neoplasia type 1' + 'cyclin dependent kinase inhibitor 1A' SubClassOf 'has_chromosomal location' value "6p21.2" + 'cyclin dependent kinase inhibitor 1A' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_535893 Label(s): cytochrome P450 family 2 subfamily A member 6 + 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'has_chromosomal location' value "19q13.2" + 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'biomarker tested in' some 'Letrozole toxicity' + 'cytochrome P450 family 2 subfamily A member 6' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_121850 Label(s): FLII actin remodeling protein + 'FLII actin remodeling protein' SubClassOf 'has_chromosomal location' value "17p11.2" + 'FLII actin remodeling protein' SubClassOf 'candidate gene tested in' some 'Smith-Magenis syndrome' + 'FLII actin remodeling protein' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_123966 Label(s): nyctalopin + 'nyctalopin' SubClassOf 'has_chromosomal location' value "Xp11.4" + 'nyctalopin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'nyctalopin' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_497094 Label(s): G protein subunit beta 3 + 'G protein subunit beta 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital stationary night blindness' + 'G protein subunit beta 3' SubClassOf 'has_chromosomal location' value "12p13.31" + 'G protein subunit beta 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_244378 Label(s): solute carrier family 24 member 1 + 'solute carrier family 24 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 24 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'solute carrier family 24 member 1' SubClassOf 'has_chromosomal location' value "15q22.31"