Ontology Diff Summary Diff date: 2025/06/26 14:29:30 First ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/last_version/ORDO_en_4.6.owl Second ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/ORDO_4_7/ORDO_en_4.7.owl Number of classes changed: 371 Number of classes added: 214 Number of classes deleted: 5 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_2699 Label(s): Median nodule of the upper lip - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Median nodule of the upper lip' SubClassOf 'part_of' some 'Rare head and neck malformation' Class: http://www.orpha.net/ORDO/Orphanet_676489 Label(s): RNA binding motif protein X-linked + 'RNA binding motif protein X-linked' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe X-linked intellectual disability, Gustavson type' Class: http://www.orpha.net/ORDO/Orphanet_227086 Label(s): caveolae associated protein 1 - 'caveolae associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' + 'caveolae associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Generalized congenital lipodystrophy with myopathy' Class: http://www.orpha.net/ORDO/Orphanet_293978 Label(s): Deficiency in anterior pituitary function-variable immunodeficiency syndrome - 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696870 Class: http://www.orpha.net/ORDO/Orphanet_79134 Label(s): DEND syndrome - 'DEND syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'DEND syndrome' SubClassOf 'part_of' some 'Metabolic diseases with epilepsy' 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 germline mutation(s) in' some 'Transient predisposition to invasive pyogenic bacterial infection' Class: http://www.orpha.net/ORDO/Orphanet_217390 Label(s): Combined immunodeficiency due to DOCK8 deficiency - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_122574 Label(s): interferon gamma - 'interferon gamma' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' + 'interferon gamma' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_699618 Class: http://www.orpha.net/ORDO/Orphanet_376599 Label(s): coenzyme Q8B + 'coenzyme Q8B' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_98261 Label(s): Progressive myoclonic epilepsy - 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' - 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' + 'Progressive myoclonic epilepsy' SubClassOf http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_98257 Label(s): Neonatal epilepsy syndrome - 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' - 'Neonatal epilepsy syndrome' SubClassOf 'group of disorders' + 'Neonatal epilepsy syndrome' SubClassOf 'obsolete group of disorder' + 'Neonatal epilepsy syndrome' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_613325 Label(s): BCAS3 microtubule associated cell migration factor - 'BCAS3 microtubule associated cell migration factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'BCAS3 microtubule associated cell migration factor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697067 Class: http://www.orpha.net/ORDO/Orphanet_171064 Label(s): caveolin 1 - 'caveolin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' + 'caveolin 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696206 Class: http://www.orpha.net/ORDO/Orphanet_275761 Label(s): Lysosomal acid lipase deficiency + 'Lysosomal acid lipase deficiency' SubClassOf 'part_of' some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_2836 Label(s): PEHO syndrome - 'PEHO syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'PEHO syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2582 Label(s): Myalgia-eosinophilia syndrome associated with tryptophan + 'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf 'part_of' some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_2574 Label(s): Moynahan syndrome - 'Moynahan syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Moynahan syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_461782 Label(s): GTP binding elongation factor GUF1 - 'GTP binding elongation factor GUF1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'GTP binding elongation factor GUF1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_565612 Label(s): Primary triglyceride deposit cardiomyovasculopathy - 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Rare disorder potentially indicated for heart transplant' - 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'disease' - 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'disorder' - 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Rare cardiac disease' - 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Neutral lipid storage disease' + 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'subtype of a disorder' + 'Primary triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_692305 Class: http://www.orpha.net/ORDO/Orphanet_494899 Label(s): EBF transcription factor 3 - 'EBF transcription factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'EBF transcription factor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79096 Label(s): Pyridoxal phosphate-responsive seizures + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_120279 Label(s): tripartite motif containing 33 + 'tripartite motif containing 33' SubClassOf 'disease-causing germline mutation(s) in' some 'Dislocation of the hip-dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98784 Label(s): Autosomal dominant nocturnal frontal lobe epilepsy - 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_2744 Label(s): Horizontal gaze palsy with progressive scoliosis + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_332034 Label(s): T-box transcription factor 6 + 'T-box transcription factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive spondylocostal dysostosis' Class: http://www.orpha.net/ORDO/Orphanet_688649 Label(s): Isolated adrenal medullary hyperplasia + 'Isolated adrenal medullary hyperplasia' SubClassOf 'part_of' some 'Rare cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_688642 Label(s): Turnpenny-Fry syndrome + 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_120236 Label(s): tripeptidyl peptidase 1 - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN2 disease' + 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699769 + 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699761 + 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699751 Class: http://www.orpha.net/ORDO/Orphanet_687695 Label(s): 10p13-p14 deletion syndrome - '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' + '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Distal deletion 10p syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54251 Label(s): Aseptic abscess syndrome - 'Aseptic abscess syndrome' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Aseptic abscess syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54247 Label(s): Posterior cortical atrophy - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Rare dementia' - 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' + 'Posterior cortical atrophy' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_529864 Label(s): Secondary erythromelalgia - 'Secondary erythromelalgia' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Secondary erythromelalgia' SubClassOf 'part_of' some 'Skin vascular disease' + 'Secondary erythromelalgia' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_454840 Label(s): NTHL1-related attenuated familial adenomatous polyposis - 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf 'subtype of a disorder' + 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf 'disease' + 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'NTHL1-related attenuated familial adenomatous polyposis' SubClassOf 'disorder' 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 http://www.orpha.net/ORDO/Orphanet_696242 Class: http://www.orpha.net/ORDO/Orphanet_454821 Label(s): OBSOLETE: Pleomorphic salivary gland adenoma + 'OBSOLETE: Pleomorphic salivary gland adenoma' SubClassOf 'Referred to' some 'Benign epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_101046 Label(s): Autosomal dominant epilepsy with auditory features - 'Autosomal dominant epilepsy with auditory features' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Autosomal dominant epilepsy with auditory features' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_500478 Label(s): Squamous cell carcinoma of the oropharynx - 'Squamous cell carcinoma of the oropharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Squamous cell carcinoma of the oropharynx' SubClassOf 'part_of' some 'OBSOLETE: Squamous cell carcinoma of head and neck' Class: http://www.orpha.net/ORDO/Orphanet_2969 Label(s): Proteus-like syndrome - 'Proteus-like syndrome' SubClassOf 'disorder' - 'Proteus-like syndrome' SubClassOf 'disease' + 'Proteus-like syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_300313 Label(s): Congenital cataract-hearing loss-severe developmental delay syndrome + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Disorder of copper metabolism' + 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_303176 Label(s): piezo type mechanosensitive ion channel component 1 (Er blood group) - 'piezo type mechanosensitive ion channel component 1 (Er blood group)' SubClassOf 'disease-causing germline mutation(s) in' some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_120169 Label(s): TNF receptor superfamily member 13B - 'TNF receptor superfamily member 13B' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'TNF receptor superfamily member 13B' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696907 Class: http://www.orpha.net/ORDO/Orphanet_688523 Label(s): Splenic venous malformation + 'Splenic venous malformation' SubClassOf 'part_of' some 'Non-syndromic visceral malformation' Class: http://www.orpha.net/ORDO/Orphanet_439218 Label(s): KCNQ2-related epileptic encephalopathy - 'KCNQ2-related epileptic encephalopathy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'KCNQ2-related epileptic encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_2330 Label(s): Kasabach-Merritt phenomenon - 'Kasabach-Merritt phenomenon' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to an acquired platelet anomaly' + 'Kasabach-Merritt phenomenon' SubClassOf 'part_of' some 'Rare hemorrhagic disorder' Class: http://www.orpha.net/ORDO/Orphanet_397596 Label(s): Activated PI3K-delta syndrome - 'Activated PI3K-delta syndrome' SubClassOf 'disease' - 'Activated PI3K-delta syndrome' SubClassOf 'part_of' some 'Agammaglobulinemia' - 'Activated PI3K-delta syndrome' SubClassOf 'disorder' + 'Activated PI3K-delta syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_696870 + 'Activated PI3K-delta syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_447877 Label(s): Polymerase proofreading-related adenomatous polyposis - 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'subtype of a disorder' + 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'disorder' + 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_460746 Label(s): chromosome alignment maintaining phosphoprotein 1 - 'chromosome alignment maintaining phosphoprotein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'chromosome alignment maintaining phosphoprotein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_692193 Class: http://www.orpha.net/ORDO/Orphanet_659609 Label(s): Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'disease' + 'Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293181 Label(s): Epilepsy of infancy with migrating focal seizures - 'Epilepsy of infancy with migrating focal seizures' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Epilepsy of infancy with migrating focal seizures' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_363263 Label(s): neurotrophic receptor tyrosine kinase 2 - 'neurotrophic receptor tyrosine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'neurotrophic receptor tyrosine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_803 Label(s): Amyotrophic lateral sclerosis + 'Amyotrophic lateral sclerosis' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_119066 Label(s): B-Raf proto-oncogene, serine/threonine kinase + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66627 Label(s): Tenosynovial giant cell tumor - 'Tenosynovial giant cell tumor' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Tenosynovial giant cell tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' Class: http://www.orpha.net/ORDO/Orphanet_248487 Label(s): high mobility group AT-hook 2 + 'high mobility group AT-hook 2' SubClassOf 'part of a fusion gene in' some 'Benign epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_512271 Label(s): canopy FGF signaling regulator 3 - 'canopy FGF signaling regulator 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'canopy FGF signaling regulator 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_119720 Label(s): secreted LY6/PLAUR domain containing 1 - 'secreted LY6/PLAUR domain containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' Class: http://www.orpha.net/ORDO/Orphanet_289513 Label(s): 12q15q21.1 microdeletion syndrome - '12q15q21.1 microdeletion syndrome' SubClassOf 'malformation syndrome' - '12q15q21.1 microdeletion syndrome' SubClassOf 'disorder' + '12q15q21.1 microdeletion syndrome' SubClassOf 'subtype of a disorder' + '12q15q21.1 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_697760 Class: http://www.orpha.net/ORDO/Orphanet_447731 Label(s): NIK deficiency - 'NIK deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'NIK deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_352582 Label(s): Familial infantile myoclonic epilepsy - 'Familial infantile myoclonic epilepsy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_596759 Label(s): Combined immunodeficiency due to RELA haploinsufficiency + 'Combined immunodeficiency due to RELA haploinsufficiency' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209989 Label(s): Non-papillary transitional cell carcinoma of the bladder - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'part_of' some 'Rare urinary tract tumor' - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'disorder' - 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'disease' + 'Non-papillary transitional cell carcinoma of the bladder' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_2963 Label(s): Progeroid syndrome, Petty type - 'Progeroid syndrome, Petty type' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' - 'Progeroid syndrome, Petty type' SubClassOf 'disorder' - 'Progeroid syndrome, Petty type' SubClassOf 'part_of' some 'Premature aging' - 'Progeroid syndrome, Petty type' SubClassOf 'malformation syndrome' - 'Progeroid syndrome, Petty type' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' + 'Progeroid syndrome, Petty type' SubClassOf 'subtype of a disorder' + 'Progeroid syndrome, Petty type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_697101 Class: http://www.orpha.net/ORDO/Orphanet_798 Label(s): Schinzel-Giedion syndrome - 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2289 Label(s): Neuronal intranuclear inclusion disease - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare dementia' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' - 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' + 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' + 'Neuronal intranuclear inclusion disease' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' Class: http://www.orpha.net/ORDO/Orphanet_163696 Label(s): Action myoclonus-renal failure syndrome - 'Action myoclonus-renal failure syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Action myoclonus-renal failure syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_159621 Label(s): gamma-aminobutyric acid type A receptor subunit beta3 - 'gamma-aminobutyric acid type A receptor subunit beta3' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'gamma-aminobutyric acid type A receptor subunit beta3' SubClassOf 'major susceptibility factor in' some 'Childhood absence epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_480536 Label(s): MSH3-related attenuated familial adenomatous polyposis - 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'subtype of a disorder' + 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'disorder' + 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163681 Label(s): CNTNAP2-related developmental and epileptic encephalopathy - 'CNTNAP2-related developmental and epileptic encephalopathy' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'CNTNAP2-related developmental and epileptic encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_118500 Label(s): sodium voltage-gated channel alpha subunit 2 - 'sodium voltage-gated channel alpha subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'sodium voltage-gated channel alpha subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'sodium voltage-gated channel alpha subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_53719 Label(s): Wyburn-Mason syndrome - 'Wyburn-Mason syndrome' SubClassOf 'disorder' - 'Wyburn-Mason syndrome' SubClassOf 'malformation syndrome' + 'Wyburn-Mason syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_137667 Label(s): Capillary malformation-arteriovenous malformation - 'Capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'RASopathy' - 'Capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'Rare disorder potentially indicated for lung transplant' - 'Capillary malformation-arteriovenous malformation' SubClassOf 'disorder' - 'Capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'Rare capillary malformation' - 'Capillary malformation-arteriovenous malformation' SubClassOf 'malformation syndrome' - 'Capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'group of disorders' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'Rare disorder potentially indicated for lung transplant' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'RASopathy' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'Rare capillary malformation' + 'Capillary malformation-arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' Class: http://www.orpha.net/ORDO/Orphanet_353460 Label(s): tetratricopeptide repeat domain 7A - 'tetratricopeptide repeat domain 7A' SubClassOf 'disease-causing germline mutation(s) in' some 'Multiple intestinal atresia' Class: http://www.orpha.net/ORDO/Orphanet_2477 Label(s): Megalencephaly + 'Megalencephaly' SubClassOf 'part_of' some 'Genetic cerebral malformation' Class: http://www.orpha.net/ORDO/Orphanet_204411 Label(s): Rac family small GTPase 2 + 'Rac family small GTPase 2' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Reticular dysgenesis-like severe combined immunodeficiency' + 'Rac family small GTPase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_692812 Class: http://www.orpha.net/ORDO/Orphanet_2123 Label(s): Multifocal infantile hemangioma with extracutenous involvement - 'Multifocal infantile hemangioma with extracutenous involvement' SubClassOf 'malformation syndrome' + 'Multifocal infantile hemangioma with extracutenous involvement' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_664923 Label(s): Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'disease' + 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1951 Label(s): Epilepsy-telangiectasia syndrome - 'Epilepsy-telangiectasia syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Epilepsy-telangiectasia syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_119834 Label(s): serine peptidase inhibitor Kazal type 1 - 'serine peptidase inhibitor Kazal type 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hereditary chronic pancreatitis' + 'serine peptidase inhibitor Kazal type 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_700124 Class: http://www.orpha.net/ORDO/Orphanet_98258 Label(s): Infantile epilepsy syndrome - 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' - 'Infantile epilepsy syndrome' SubClassOf 'group of disorders' + 'Infantile epilepsy syndrome' SubClassOf 'obsolete group of disorder' + 'Infantile epilepsy syndrome' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_1949 Label(s): Self-limited neonatal epilepsy - 'Self-limited neonatal epilepsy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Self-limited neonatal epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_1947 Label(s): Progressive epilepsy-intellectual disability syndrome, Finnish type - 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'disease' - 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'disorder' - 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' - 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'part_of' some 'CLN8 disease' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_1945 Label(s): Self-limited epilepsy with centrotemporal spikes - 'Self-limited epilepsy with centrotemporal spikes' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Self-limited epilepsy with centrotemporal spikes' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1943 Label(s): Early-onset progressive encephalopathy with migrant continuous myoclonus - 'Early-onset progressive encephalopathy with migrant continuous myoclonus' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Early-onset progressive encephalopathy with migrant continuous myoclonus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_109 Label(s): Bannayan-Riley-Ruvalcaba syndrome - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'malformation syndrome' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'disorder' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_1934 Label(s): Early infantile epileptic encephalopathy - 'Early infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Early infantile epileptic encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_228429 Label(s): Generalized congenital lipodystrophy with myopathy - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Moved to' some 'Congenital generalized lipodystrophy' - 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'deprecated disorder' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'subtype of a disorder' + 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119626 Label(s): ALG8 alpha-1,3-glucosyltransferase + 'ALG8 alpha-1,3-glucosyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_587138 Label(s): azoospermia factor 1 + 'azoospermia factor 1' SubClassOf 'has_chromosomal location' value "Yq11" Class: http://www.orpha.net/ORDO/Orphanet_639 Label(s): Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'disease' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'part_of' some 'Chronic acquired demyelinating polyneuropathy' - 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'disorder' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'Moved to' some 'Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy' + 'Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_521268 Label(s): OBSOLETE: SLC5A6-CDG - 'OBSOLETE: SLC5A6-CDG' SubClassOf 'obsolete disorder' - 'OBSOLETE: SLC5A6-CDG' SubClassOf 'Referred to' some 'Disorder of other vitamins and cofactors metabolism and transport' + 'OBSOLETE: SLC5A6-CDG' SubClassOf 'disease' + 'OBSOLETE: SLC5A6-CDG' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy' + 'OBSOLETE: SLC5A6-CDG' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' + 'OBSOLETE: SLC5A6-CDG' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_391684 Label(s): calreticulin - 'calreticulin' SubClassOf 'disease-causing somatic mutation(s) in' some 'Budd-Chiari syndrome' + 'calreticulin' SubClassOf 'candidate gene tested in' some 'Budd-Chiari syndrome' Class: http://www.orpha.net/ORDO/Orphanet_469582 Label(s): component of inhibitor of nuclear factor kappa B kinase complex + 'component of inhibitor of nuclear factor kappa B kinase complex' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697403 Class: http://www.orpha.net/ORDO/Orphanet_86923 Label(s): Hereditary palmoplantar keratoderma, Gamborg-Nielsen type - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disorder' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'part_of' some 'Autosomal recessive isolated diffuse palmoplantar keratoderma' - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'deprecated disorder' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Moved to' some 'Mal de Meleda' Class: http://www.orpha.net/ORDO/Orphanet_2095 Label(s): Gorlin-Chaudhry-Moss syndrome - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'disorder' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'malformation syndrome' - 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'subtype of a disorder' + 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_697101 Class: http://www.orpha.net/ORDO/Orphanet_119297 Label(s): cyclin dependent kinase like 5 - 'cyclin dependent kinase like 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'cyclin dependent kinase like 5' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_286549 Label(s): calcium voltage-gated channel subunit alpha1 H - 'calcium voltage-gated channel subunit alpha1 H' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'calcium voltage-gated channel subunit alpha1 H' SubClassOf 'candidate gene tested in' some 'Childhood absence epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_470722 Label(s): myelin transcription factor 1 like + 'myelin transcription factor 1 like' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_699850 Class: http://www.orpha.net/ORDO/Orphanet_166302 Label(s): Benign partial epilepsy with secondarily generalized seizures in infancy - 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'obsolete disorder' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'deprecated disorder' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Moved to' some 'Self-limited infantile epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_444761 Label(s): zinc finger MYND-type containing 11 - 'zinc finger MYND-type containing 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger MYND-type containing 11' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_694308 Class: http://www.orpha.net/ORDO/Orphanet_444729 Label(s): isoleucyl-tRNA synthetase 2, mitochondrial + 'isoleucyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_649920 Label(s): NUAK family kinase 2 - 'NUAK family kinase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated anencephaly' - 'NUAK family kinase 2' SubClassOf 'has_chromosomal location' value "1q32.1" - 'NUAK family kinase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_202 Label(s): Crandall syndrome - 'Crandall syndrome' SubClassOf 'part_of' some 'Syndromic hair shaft abnormality' - 'Crandall syndrome' SubClassOf 'disorder' - 'Crandall syndrome' SubClassOf 'disease' + 'Crandall syndrome' SubClassOf 'deprecated disorder' + 'Crandall syndrome' SubClassOf 'Moved to' some 'Björnstad syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238744 Label(s): Mammary-digital-nail syndrome + 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_159489 Label(s): cathepsin D - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN10 disease' + 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700492 + 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700487 + 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700497 Class: http://www.orpha.net/ORDO/Orphanet_458718 Label(s): Idiopathic spontaneous coronary artery dissection - 'Idiopathic spontaneous coronary artery dissection' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' + 'Idiopathic spontaneous coronary artery dissection' SubClassOf 'part_of' some 'Rare cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_266 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1A - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'disease' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'part_of' some 'Myotilinopathy' - 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'disorder' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Moved to' some 'Distal myotilinopathy' + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'deprecated 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 http://www.orpha.net/ORDO/Orphanet_694963 Class: http://www.orpha.net/ORDO/Orphanet_122376 Label(s): hemoglobin subunit beta - 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Sickle cell-beta-thalassemia disease syndrome' + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_695140 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700090 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700111 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_695147 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699822 + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700107 Class: http://www.orpha.net/ORDO/Orphanet_569 Label(s): Familial or sporadic hemiplegic migraine - 'Familial or sporadic hemiplegic migraine' SubClassOf 'part_of' some 'Benign partial infantile seizures' Class: http://www.orpha.net/ORDO/Orphanet_166299 Label(s): Benign partial epilepsy of infancy with complex partial seizures - 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'obsolete disorder' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Moved to' some 'Self-limited infantile epilepsy' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_123393 Label(s): APC regulator of WNT signaling pathway - 'APC regulator of WNT signaling pathway' SubClassOf 'disease-causing germline mutation(s) in' some 'Gardner syndrome' - 'APC regulator of WNT signaling pathway' SubClassOf 'disease-causing germline mutation(s) in' some 'Turcot syndrome with polyposis' - 'APC regulator of WNT signaling pathway' SubClassOf 'disease-causing germline mutation(s) in' some 'APC-related attenuated familial adenomatous polyposis' + 'APC regulator of WNT signaling pathway' SubClassOf 'disease-causing germline mutation(s) in' some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_353217 Label(s): Epileptic encephalopathy with global cerebral demyelination - 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'part_of' some 'Mitochondrial disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1765 Label(s): OBSOLETE: Dyschondrosteosis-nephritis syndrome - 'OBSOLETE: Dyschondrosteosis-nephritis syndrome' SubClassOf 'Referred to' some 'Primary bone dysplasia with increased bone density' + 'OBSOLETE: Dyschondrosteosis-nephritis syndrome' SubClassOf 'Referred to' some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_71274 Label(s): Disseminated peritoneal leiomyomatosis - 'Disseminated peritoneal leiomyomatosis' SubClassOf 'part_of' some 'Primary peritoneal tumor' + 'Disseminated peritoneal leiomyomatosis' SubClassOf 'part_of' some 'Primary benign peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_1756 Label(s): Caudal duplication + 'Caudal duplication' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_306 Label(s): Self-limited infantile epilepsy - 'Self-limited infantile epilepsy' SubClassOf 'part_of' some 'Benign partial infantile seizures' + 'Self-limited infantile epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_307 Label(s): Juvenile myoclonic epilepsy - 'Juvenile myoclonic epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Juvenile myoclonic epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_463796 Label(s): unc-80 homolog, NALCN channel complex subunit - 'unc-80 homolog, NALCN channel complex subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' + 'unc-80 homolog, NALCN channel complex subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_700333 Class: http://www.orpha.net/ORDO/Orphanet_317473 Label(s): Pancytopenia due to IKZF1 mutations - 'Pancytopenia due to IKZF1 mutations' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'Pancytopenia due to IKZF1 mutations' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696870 Class: http://www.orpha.net/ORDO/Orphanet_118231 Label(s): RAS p21 protein activator 1 - 'RAS p21 protein activator 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Capillary malformation-arteriovenous malformation' + 'RAS p21 protein activator 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_693907 Class: http://www.orpha.net/ORDO/Orphanet_120643 Label(s): CLN6 transmembrane ER protein - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN6 disease' + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700472 + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700467 + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700477 Class: http://www.orpha.net/ORDO/Orphanet_118437 Label(s): ryanodine receptor 1 + 'ryanodine receptor 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700188 Class: http://www.orpha.net/ORDO/Orphanet_470516 Label(s): interferon regulatory factor 4 - 'interferon regulatory factor 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Whipple disease' + 'interferon regulatory factor 4' SubClassOf 'major susceptibility factor in' some 'Whipple disease' Class: http://www.orpha.net/ORDO/Orphanet_209484 Label(s): NIMA related kinase 8 + 'NIMA related kinase 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_261584 Label(s): Familial adenomatous polyposis due to 5q22.2 microdeletion - 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Familial adenomatous polyposis' - 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'subtype of a disorder' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'disorder' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'disease' + 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_285089 Label(s): peroxidasin + 'peroxidasin' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_699850 Class: http://www.orpha.net/ORDO/Orphanet_166305 Label(s): Benign infantile seizures associated with mild gastroenteritis - 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf 'part_of' some 'Benign partial infantile seizures' - 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf 'disease' - 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf 'disorder' + 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf 'obsolete disorder' + 'Benign infantile seizures associated with mild gastroenteritis' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_99989 Label(s): Intermediate DEND syndrome - 'Intermediate DEND syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Intermediate DEND syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1647 Label(s): Oculocerebrocutaneous syndrome - 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Oculocerebrocutaneous syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_166311 Label(s): Benign partial infantile seizures - 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' + 'Benign partial infantile seizures' SubClassOf http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_314689 Label(s): Combined immunodeficiency due to STK4 deficiency - 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_99941 Label(s): Autosomal dominant Charcot-Marie-Tooth disease type 2G - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'disease' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' - 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'disorder' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'Moved to' some 'Charcot-Marie-Tooth disease type 2P' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_615954 Label(s): Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' SubClassOf 'part_of' some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118128 Label(s): phosphatase and tensin homolog - 'phosphatase and tensin homolog' SubClassOf 'disease-causing germline mutation(s) in' some 'Bilateral frontoparietal polymicrogyria' - 'phosphatase and tensin homolog' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Activated PI3K-delta syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119502 Label(s): adenosine deaminase RNA specific + 'adenosine deaminase RNA specific' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_694356 Class: http://www.orpha.net/ORDO/Orphanet_226016 Label(s): phosphodiesterase 8B + 'phosphodiesterase 8B' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated micronodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_124154 Label(s): platelet derived growth factor receptor alpha + 'platelet derived growth factor receptor alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Gastrointestinal stromal tumor' Class: http://www.orpha.net/ORDO/Orphanet_121989 Label(s): gamma-aminobutyric acid type A receptor subunit alpha1 - 'gamma-aminobutyric acid type A receptor subunit alpha1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'gamma-aminobutyric acid type A receptor subunit alpha1' SubClassOf 'major susceptibility factor in' some 'Juvenile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_310 Label(s): Reflex epilepsy - 'Reflex epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' - 'Reflex epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' + 'Reflex epilepsy' SubClassOf http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_118954 Label(s): axin 2 - 'axin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Oligodontia-cancer predisposition syndrome' - 'axin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Oligodontia' Class: http://www.orpha.net/ORDO/Orphanet_122110 Label(s): gap junction protein gamma 2 - 'gap junction protein gamma 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Milroy disease' + 'gap junction protein gamma 2' SubClassOf 'disease-causing germline mutation(s) in' some 'GJC2-related late-onset primary lymphedema' Class: http://www.orpha.net/ORDO/Orphanet_494550 Label(s): Squamous cell carcinoma of the larynx - 'Squamous cell carcinoma of the larynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Squamous cell carcinoma of the larynx' SubClassOf 'part_of' some 'OBSOLETE: Squamous cell carcinoma of head and neck' Class: http://www.orpha.net/ORDO/Orphanet_685082 Label(s): Pediatric acute respiratory distress syndrome - 'Pediatric acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Pediatric acute respiratory distress syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_391316 Label(s): Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120780 Label(s): carboxypeptidase A6 - 'carboxypeptidase A6' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial mesial temporal lobe epilepsy with febrile seizures' + 'carboxypeptidase A6' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Genetic epilepsy with febrile seizure plus' Class: http://www.orpha.net/ORDO/Orphanet_1572 Label(s): Common variable immunodeficiency - 'Common variable immunodeficiency' SubClassOf 'disorder' - 'Common variable immunodeficiency' SubClassOf 'disease' - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' - 'Common variable immunodeficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'Common variable immunodeficiency' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_696851 + 'Common variable immunodeficiency' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_509002 Label(s): EPH receptor B4 - 'EPH receptor B4' SubClassOf 'disease-causing germline mutation(s) in' some 'Capillary malformation-arteriovenous malformation' + 'EPH receptor B4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_693912 Class: http://www.orpha.net/ORDO/Orphanet_26790 Label(s): Pseudomyxoma peritonei - 'Pseudomyxoma peritonei' SubClassOf 'part_of' some 'Primary peritoneal tumor' + 'Pseudomyxoma peritonei' SubClassOf 'part_of' some 'Primary malignant peritoneal tumor' Class: http://www.orpha.net/ORDO/Orphanet_165805 Label(s): Familial mesial temporal lobe epilepsy with febrile seizures - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disease' - 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'disorder' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Moved to' some 'Genetic epilepsy with febrile seizure plus' + 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated + 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_694963 Class: http://www.orpha.net/ORDO/Orphanet_431623 Label(s): KN motif and ankyrin repeat domains 2 + 'KN motif and ankyrin repeat domains 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75234 Label(s): Cholesteryl ester storage disease - 'Cholesteryl ester storage disease' SubClassOf 'part_of' some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_75233 Label(s): Wolman disease - 'Wolman disease' SubClassOf 'part_of' some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_99831 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect - 'OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf 'Referred to' some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_696851 Class: http://www.orpha.net/ORDO/Orphanet_368114 Label(s): retinoic acid receptor beta - 'retinoic acid receptor beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Matthew-Wood syndrome' + 'retinoic acid receptor beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99818 Label(s): Turcot syndrome with polyposis - 'Turcot syndrome with polyposis' SubClassOf 'subtype of a disorder' - 'Turcot syndrome with polyposis' SubClassOf 'part_of' some 'Inherited nervous system cancer-predisposing syndrome' - 'Turcot syndrome with polyposis' SubClassOf 'part_of' some 'Familial adenomatous polyposis' + 'Turcot syndrome with polyposis' SubClassOf 'deprecated subtype of disorder' + 'Turcot syndrome with polyposis' SubClassOf 'Moved to' some 'Familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_99807 Label(s): PEHO-like syndrome - 'PEHO-like syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'PEHO-like syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_1239 Label(s): Behr syndrome - 'Behr syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Behr syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Behr syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686999 Label(s): Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome + 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123664 Label(s): myotilin - 'myotilin' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant limb-girdle muscular dystrophy type 1A' Class: http://www.orpha.net/ORDO/Orphanet_158029 Label(s): Sea-blue histiocytosis - 'Sea-blue histiocytosis' SubClassOf 'disorder' - 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Sea-blue histiocytosis' SubClassOf 'disease' - 'Sea-blue histiocytosis' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis' + 'Sea-blue histiocytosis' SubClassOf 'Referred to' some 'Non-Langerhans cell histiocytosis' + 'Sea-blue histiocytosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_121878 Label(s): fragile X messenger ribonucleoprotein 1 - 'fragile X messenger ribonucleoprotein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Symptomatic form of fragile X syndrome in female carriers' Class: http://www.orpha.net/ORDO/Orphanet_201 Label(s): Cowden syndrome - 'Cowden syndrome' SubClassOf 'disease' - 'Cowden syndrome' SubClassOf 'disorder' + 'Cowden syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_122565 Label(s): inducible T cell costimulator - 'inducible T cell costimulator' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'inducible T cell costimulator' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_695183 Class: http://www.orpha.net/ORDO/Orphanet_120881 Label(s): catenin beta 1 + 'catenin beta 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Osteopathia striata-cranial sclerosis syndrome' + 'catenin beta 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Acrofacial dysostosis, Weyers type' 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 'Non-severe combined immunodeficiency' + 'IL21-related infantile inflammatory bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_432047 Label(s): valyl-tRNA synthetase 1 - 'valyl-tRNA synthetase 1' SubClassOf 'has_chromosomal location' value "6p21.33" - 'valyl-tRNA synthetase 1' SubClassOf 'gene with protein product' - 'valyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 20' Class: http://www.orpha.net/ORDO/Orphanet_166412 Label(s): Hot water reflex epilepsy - 'Hot water reflex epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_140927 Label(s): Self-limited neonatal-infantile epilepsy - 'Self-limited neonatal-infantile epilepsy' SubClassOf 'part_of' some 'Benign partial infantile seizures' + 'Self-limited neonatal-infantile epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_406016 Label(s): DNA methyltransferase 3 alpha + 'DNA methyltransferase 3 alpha' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'DNMT3A-related microcephalic dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_140905 Label(s): Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - 'Hyperlipidemia due to hepatic triacylglycerol lipase deficiency' SubClassOf 'part_of' some 'Familial Hyperalphalipoproteinemia' + 'Hyperlipidemia due to hepatic triacylglycerol lipase deficiency' SubClassOf 'part_of' some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_209370 Label(s): Severe neonatal-onset encephalopathy with microcephaly - 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_100 Label(s): Ataxia-telangiectasia + 'Ataxia-telangiectasia' SubClassOf 'part_of' some 'Neurocutaneous syndrome with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_123774 Label(s): NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor + 'NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor' SubClassOf 'disease-causing germline mutation(s) in' some 'Mosaic NF2-related schwannomatosis' Class: http://www.orpha.net/ORDO/Orphanet_569926 Label(s): CCR4-NOT transcription complex subunit 1 + 'CCR4-NOT transcription complex subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_247806 Label(s): APC-related attenuated familial adenomatous polyposis - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'subtype of a disorder' - 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'obsolete subtype of disorder' + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'Referred to' some 'Attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_221342 Label(s): transmembrane protein 216 + 'transmembrane protein 216' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_258534 Label(s): phospholipase C beta 1 - 'phospholipase C beta 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Infantile epileptic spasms syndrome' + 'phospholipase C beta 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_687424 Label(s): 10p15 microdeletion syndrome - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' - '10p15 microdeletion syndrome' SubClassOf 'malformation syndrome' - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '10p15 microdeletion syndrome' SubClassOf 'disorder' - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Distal deletion 10p syndrome' + '10p15 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_694304 + '10p15 microdeletion syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_434516 Label(s): phosphatidylinositol 4-kinase alpha - 'phosphatidylinositol 4-kinase alpha' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency-enteropathy spectrum' + 'phosphatidylinositol 4-kinase alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency-enteropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_280347 Label(s): dystroglycan 1 + 'dystroglycan 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated asymptomatic elevation of creatine phosphokinase' 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 choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_122614 Label(s): inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - 'inhibitor of nuclear factor kappa B kinase regulatory subunit gamma' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' + 'inhibitor of nuclear factor kappa B kinase regulatory subunit gamma' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699605 Class: http://www.orpha.net/ORDO/Orphanet_674947 Label(s): Diffuse unilateral subacute neuroretinitis + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some 'Rare optic nerve disorder' Class: http://www.orpha.net/ORDO/Orphanet_48818 Label(s): Aceruloplasminemia + 'Aceruloplasminemia' SubClassOf 'part_of' some 'Disorder of copper metabolism' Class: http://www.orpha.net/ORDO/Orphanet_121642 Label(s): EWS RNA binding protein 1 + 'EWS RNA binding protein 1' SubClassOf 'part of a fusion gene in' some 'Angiomatoid fibrous histiocytoma' Class: http://www.orpha.net/ORDO/Orphanet_231527 Label(s): phosphatidylinositol glycan anchor biosynthesis class A - 'phosphatidylinositol glycan anchor biosynthesis class A' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'phosphatidylinositol glycan anchor biosynthesis class A' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_231494 Label(s): TNF receptor superfamily member 13C - 'TNF receptor superfamily member 13C' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'TNF receptor superfamily member 13C' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696925 Class: http://www.orpha.net/ORDO/Orphanet_1292 Label(s): Brachymorphism-onychodysplasia-dysphalangism syndrome + 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_352596 Label(s): Progressive myoclonic epilepsy with dystonia - 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235199 Label(s): CD81 molecule - 'CD81 molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD81 molecule' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696881 Class: http://www.orpha.net/ORDO/Orphanet_235193 Label(s): membrane spanning 4-domains A1 - 'membrane spanning 4-domains A1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' - 'membrane spanning 4-domains A1' SubClassOf 'gene with protein product' - 'membrane spanning 4-domains A1' SubClassOf 'has_chromosomal location' value "11q12.2" Class: http://www.orpha.net/ORDO/Orphanet_332108 Label(s): ETS2 repressor factor - 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-syndromic sagittal craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_646278 Label(s): CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome + 'CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_844 Label(s): Lown-Ganong-Levine syndrome - 'Lown-Ganong-Levine syndrome' SubClassOf 'disease' - 'Lown-Ganong-Levine syndrome' SubClassOf 'disorder' - 'Lown-Ganong-Levine syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Lown-Ganong-Levine syndrome' SubClassOf 'Referred to' some 'Genetic cardiac rhythm disease' + 'Lown-Ganong-Levine syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_544254 Label(s): SYNGAP1-related developmental and epileptic encephalopathy - 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_65285 Label(s): Lhermitte-Duclos disease - 'Lhermitte-Duclos disease' SubClassOf 'disorder' - 'Lhermitte-Duclos disease' SubClassOf 'disease' + 'Lhermitte-Duclos disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_329324 Label(s): Inverse Klippel-Trénaunay syndrome - 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'disorder' - 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' - 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'disease' - 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' + 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Moved to' some 'Klippel-Trénaunay syndrome' + 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_371601 Label(s): TBC1 domain family member 7 - 'TBC1 domain family member 7' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated megalencephaly' + 'TBC1 domain family member 7' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Megalencephaly' Class: http://www.orpha.net/ORDO/Orphanet_118010 Label(s): protein kinase cAMP-dependent type I regulatory subunit alpha + 'protein kinase cAMP-dependent type I regulatory subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_570762 Label(s): Infective endocarditis + 'Infective endocarditis' SubClassOf 'part_of' some 'Rare mycosis' Class: http://www.orpha.net/ORDO/Orphanet_1192 Label(s): Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - 'Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319623 Label(s): X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' - 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'subtype of a disorder' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'obsolete subtype of disorder' + 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'Referred to' some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_319612 Label(s): X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'subtype of a disorder' - 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'part_of' some 'X-linked mendelian susceptibility to mycobacterial diseases' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'Referred to' some 'Hypohidrotic ectodermal dysplasia with immunodeficiency' + 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_449291 Label(s): Symptomatic form of fragile X syndrome in female carriers - 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'part_of' some 'Rare non-acquired premature ovarian failure' - 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'disease' - 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'part_of' some 'Rare genetic premature ovarian failure' - 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'disorder' + 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'obsolete disorder' + 'Symptomatic form of fragile X syndrome in female carriers' SubClassOf 'Referred to' some 'Fragile X syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400623 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta - 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Activated PI3K-delta syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_693661 + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_270002 Label(s): intraflagellar transport 43 + 'intraflagellar transport 43' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_431562 Label(s): APC regulator of WNT signaling pathway 2 - 'APC regulator of WNT signaling pathway 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Classic lissencephaly' Class: http://www.orpha.net/ORDO/Orphanet_48104 Label(s): Pyoderma gangrenosum + 'Pyoderma gangrenosum' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_602220 Label(s): serpin family A member 12 - 'serpin family A member 12' SubClassOf 'has_chromosomal location' value "14q32.13" - 'serpin family A member 12' SubClassOf 'gene with protein product' - 'serpin family A member 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' Class: http://www.orpha.net/ORDO/Orphanet_251380 Label(s): Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - 'Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease associated with another hemoglobin anomaly' + 'Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_251375 Label(s): Sickle cell-hemoglobin E disease syndrome - 'Sickle cell-hemoglobin E disease syndrome' SubClassOf 'disease' - 'Sickle cell-hemoglobin E disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease associated with another hemoglobin anomaly' - 'Sickle cell-hemoglobin E disease syndrome' SubClassOf 'disorder' + 'Sickle cell-hemoglobin E disease syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_700085 + 'Sickle cell-hemoglobin E disease syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_251365 Label(s): Sickle cell-hemoglobin C disease syndrome - 'Sickle cell-hemoglobin C disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease associated with another hemoglobin anomaly' + 'Sickle cell-hemoglobin C disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_36387 Label(s): Genetic epilepsy with febrile seizure plus - 'Genetic epilepsy with febrile seizure plus' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Genetic epilepsy with febrile seizure plus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_251359 Label(s): Sickle cell-beta-thalassemia disease syndrome - 'Sickle cell-beta-thalassemia disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease associated with another hemoglobin anomaly' + 'Sickle cell-beta-thalassemia disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease and related diseases' Class: http://www.orpha.net/ORDO/Orphanet_251355 Label(s): Sickle cell disease associated with another hemoglobin anomaly - 'Sickle cell disease associated with another hemoglobin anomaly' SubClassOf 'group of disorders' - 'Sickle cell disease associated with another hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' + 'Sickle cell disease associated with another hemoglobin anomaly' SubClassOf 'Referred to' some 'Sickle cell disease and related diseases' + 'Sickle cell disease associated with another hemoglobin anomaly' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_158581 Label(s): TAR DNA binding protein + 'TAR DNA binding protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700154 Class: http://www.orpha.net/ORDO/Orphanet_86913 Label(s): Myoclonic epilepsy in non-progressive encephalopathies - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_86908 Label(s): Hemiconvulsion-hemiplegia-epilepsy syndrome - 'Hemiconvulsion-hemiplegia-epilepsy syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Hemiconvulsion-hemiplegia-epilepsy syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Hemiconvulsion-hemiplegia-epilepsy syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86906 Label(s): Hypothalamic hamartomas with gelastic seizures + 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_583333 Label(s): angiopoietin 2 - 'angiopoietin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Milroy disease' Class: http://www.orpha.net/ORDO/Orphanet_201496 Label(s): ciliogenesis associated kinase 1 - 'ciliogenesis associated kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'ciliogenesis associated kinase 1' SubClassOf 'major susceptibility factor in' some 'Juvenile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_331721 Label(s): WD repeat domain 45 - 'WD repeat domain 45' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'WD repeat domain 45' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_686447 Label(s): IFNG-responsive severe mendelian susceptibility to mycobacterial diseases - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disorder' - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'obsolete disorder' + 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'Referred to' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_121437 Label(s): aristaless related homeobox - 'aristaless related homeobox' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'aristaless related homeobox' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_664511 Label(s): Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + 'Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_494547 Label(s): Squamous cell carcinoma of the hypopharynx - 'Squamous cell carcinoma of the hypopharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Squamous cell carcinoma of the hypopharynx' SubClassOf 'part_of' some 'OBSOLETE: Squamous cell carcinoma of head and neck' Class: http://www.orpha.net/ORDO/Orphanet_535393 Label(s): phosphatase and actin regulator 1 - 'phosphatase and actin regulator 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'phosphatase and actin regulator 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_168172 Label(s): adenylate cyclase 10 - 'adenylate cyclase 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Idiopathic hypercalciuria' + 'adenylate cyclase 10' SubClassOf 'major susceptibility factor in' some 'Idiopathic hypercalciuria' Class: http://www.orpha.net/ORDO/Orphanet_166295 Label(s): Benign non-familial infantile seizures - 'Benign non-familial infantile seizures' SubClassOf 'obsolete group of disorder' + 'Benign non-familial infantile seizures' SubClassOf 'deprecated group of disorder' + 'Benign non-familial infantile seizures' SubClassOf 'Moved to' some 'Self-limited infantile epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_662367 Label(s): NESCAV syndrome + 'NESCAV syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_121390 Label(s): apolipoprotein E - 'apolipoprotein E' SubClassOf 'disease-causing germline mutation(s) in' some 'Sea-blue histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_689397 Label(s): Poirier-Bienvenue neurodevelopmental syndrome + 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_158410 Label(s): solute carrier family 2 member 1 - 'solute carrier family 2 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood absence epilepsy' + 'solute carrier family 2 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_77303 Label(s): OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect - 'OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf 'Referred to' some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_696851 Class: http://www.orpha.net/ORDO/Orphanet_39044 Label(s): Uveal melanoma + 'Uveal melanoma' SubClassOf 'part_of' some 'Rare choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_39041 Label(s): Omenn syndrome - 'Omenn syndrome' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Omenn syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_2300 Label(s): Multiple intestinal atresia - 'Multiple intestinal atresia' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' - 'Multiple intestinal atresia' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_376877 Label(s): sodium leak channel, non-selective - 'sodium leak channel, non-selective' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' + 'sodium leak channel, non-selective' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700336 Class: http://www.orpha.net/ORDO/Orphanet_397695 Label(s): 3q27.3 microdeletion syndrome - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '3q27.3 microdeletion syndrome' SubClassOf 'disorder' - '3q27.3 microdeletion syndrome' SubClassOf 'disease' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3 syndrome' - '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf 'Moved to' some http://www.orpha.net/ORDO/Orphanet_695611 + '3q27.3 microdeletion syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_684240 Label(s): Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Rare hyperkinetic movement disorder' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Rare genetic hyperkinetic movement disorder' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_352217 Label(s): phosphoinositide-3-kinase regulatory subunit 1 - 'phosphoinositide-3-kinase regulatory subunit 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Activated PI3K-delta syndrome' + 'phosphoinositide-3-kinase regulatory subunit 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_693681 Class: http://www.orpha.net/ORDO/Orphanet_684216 Label(s): Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_158386 Label(s): bone morphogenetic protein 15 + 'bone morphogenetic protein 15' SubClassOf 'major susceptibility factor in' some 'Malignant teratoma of ovary' Class: http://www.orpha.net/ORDO/Orphanet_662255 Label(s): Grisel syndrome - 'Grisel syndrome' SubClassOf 'part_of' some 'Acquired dermis elastic tissue disorder' + 'Grisel syndrome' SubClassOf 'part_of' some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_237462 Label(s): T-box transcription factor 20 + 'T-box transcription factor 20' SubClassOf 'disease-causing germline mutation(s) in' some 'Left ventricular noncompaction' Class: http://www.orpha.net/ORDO/Orphanet_121299 Label(s): EGF containing fibulin extracellular matrix protein 2 + 'EGF containing fibulin extracellular matrix protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_331931 Label(s): heterogeneous nuclear ribonucleoprotein A1 + 'heterogeneous nuclear ribonucleoprotein A1' SubClassOf 'disease-causing germline mutation(s) in' some 'Finnish upper limb-onset distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_300576 Label(s): Oligodontia-cancer predisposition syndrome - 'Oligodontia-cancer predisposition syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'Oligodontia-cancer predisposition syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Oligodontia-cancer predisposition syndrome' SubClassOf 'disorder' - 'Oligodontia-cancer predisposition syndrome' SubClassOf 'disease' + 'Oligodontia-cancer predisposition syndrome' SubClassOf 'deprecated disorder' + 'Oligodontia-cancer predisposition syndrome' SubClassOf 'Moved to' some 'AXIN2-related attenuated familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_691003 Label(s): TATA-box binding protein associated factor 6 - 'TATA-box binding protein associated factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' + 'TATA-box binding protein associated factor 6' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_694946 Class: http://www.orpha.net/ORDO/Orphanet_295000 Label(s): Amniotic band syndrome - 'Amniotic band syndrome' SubClassOf 'part_of' some 'Non-syndromic terminal transverse limb defect' + 'Amniotic band syndrome' SubClassOf 'part_of' some 'Congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_122427 Label(s): major histocompatibility complex, class II, DR beta 1 + 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'major susceptibility factor in' some 'Vogt-Koyanagi-Harada disease' Class: http://www.orpha.net/ORDO/Orphanet_119874 Label(s): SSX family member 1 + 'SSX family member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_160020 Label(s): ALK receptor tyrosine kinase - 'ALK receptor tyrosine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Neuroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_423011 Label(s): protein kinase cAMP-dependent type I regulatory subunit beta + 'protein kinase cAMP-dependent type I regulatory subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_692173 Class: http://www.orpha.net/ORDO/Orphanet_96346 Label(s): Anorectal malformation - 'Anorectal malformation' SubClassOf 'Digestive tract malformation' - 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' + 'Anorectal malformation' SubClassOf 'Malformation of the anal canal and the rectum' Class: http://www.orpha.net/ORDO/Orphanet_652522 Label(s): Periodic fever-immunodeficiency-thrombocytopenia syndrome - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Syndrome with congenital neutropenia as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_667678 Label(s): Intraoral basal cell carcinoma - 'Intraoral basal cell carcinoma' SubClassOf 'part_of' some 'Rare odontogenic tumor' + 'Intraoral basal cell carcinoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_268803 Label(s): small muscle protein X-linked + 'small muscle protein X-linked' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_700163 Class: http://www.orpha.net/ORDO/Orphanet_99139 Label(s): Unstable hemoglobin disease + 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_502369 Label(s): Squamous cell carcinoma of oral cavity and lip - 'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'Rare otorhinolaryngologic tumor' + 'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'OBSOLETE: Squamous cell carcinoma of head and neck' Class: http://www.orpha.net/ORDO/Orphanet_117978 Label(s): palmitoyl-protein thioesterase 1 - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN1 disease' + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699739 + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699718 + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699745 + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699734 Class: http://www.orpha.net/ORDO/Orphanet_1941 Label(s): Juvenile absence epilepsy - 'Juvenile absence epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Juvenile absence epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_3465 Label(s): Worster-Drought syndrome - 'Worster-Drought syndrome' SubClassOf 'malformation syndrome' + 'Worster-Drought syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3451 Label(s): Infantile epileptic spasms syndrome - 'Infantile epileptic spasms syndrome' SubClassOf 'part_of' some 'Neurological channelopathy of the central nervous system due to a genetic sodium channel defect' - 'Infantile epileptic spasms syndrome' SubClassOf 'disorder' - 'Infantile epileptic spasms syndrome' SubClassOf 'Clinical syndrome' - 'Infantile epileptic spasms syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' - 'Infantile epileptic spasms syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Infantile epileptic spasms syndrome' SubClassOf 'part_of' some 'ARX-related epileptic encephalopathy' + 'Infantile epileptic spasms syndrome' SubClassOf 'deprecated disorder' + 'Infantile epileptic spasms syndrome' SubClassOf 'Moved to' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_3433 Label(s): Microcephaly-brachydactyly-kyphoscoliosis syndrome + 'Microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_119085 Label(s): BSCL2 lipid droplet biogenesis associated, seipin - 'BSCL2 lipid droplet biogenesis associated, seipin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' + 'BSCL2 lipid droplet biogenesis associated, seipin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696289 Class: http://www.orpha.net/ORDO/Orphanet_369861 Label(s): Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects' + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696870 Class: http://www.orpha.net/ORDO/Orphanet_235187 Label(s): spectrin alpha, non-erythrocytic 1 - 'spectrin alpha, non-erythrocytic 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'spectrin alpha, non-erythrocytic 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_369810 Label(s): leucine zipper like post translational regulator 1 + 'leucine zipper like post translational regulator 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated café-au-lait macules' Class: http://www.orpha.net/ORDO/Orphanet_159942 Label(s): p21 (RAC1) activated kinase 3 - 'p21 (RAC1) activated kinase 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'X-linked non-syndromic intellectual disability' + 'p21 (RAC1) activated kinase 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_268343 Label(s): potassium channel tetramerization domain containing 7 + 'potassium channel tetramerization domain containing 7' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699708 Class: http://www.orpha.net/ORDO/Orphanet_120935 Label(s): cytochrome b-245 beta chain - 'cytochrome b-245 beta chain' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' + 'cytochrome b-245 beta chain' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_247798 Label(s): MUTYH-related attenuated familial adenomatous polyposis - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'subtype of a disorder' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'disorder' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_285223 Label(s): ST3 beta-galactoside alpha-2,3-sialyltransferase 3 - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' - 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'ST3 beta-galactoside alpha-2,3-sialyltransferase 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697734 Class: http://www.orpha.net/ORDO/Orphanet_281857 Label(s): hemoglobin subunit delta + 'hemoglobin subunit delta' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699822 Class: http://www.orpha.net/ORDO/Orphanet_282786 Label(s): glutamate ionotropic receptor NMDA type subunit 1 + 'glutamate ionotropic receptor NMDA type subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' 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) (gain of function) in' some 'Infantile epileptic spasms syndrome' + 'glutamate ionotropic receptor NMDA type subunit 2B' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_509006 Label(s): erb-b2 receptor tyrosine kinase 2 + 'erb-b2 receptor tyrosine kinase 2' SubClassOf 'disease-causing somatic mutation(s) in' some 'Extramammary Paget disease' + 'erb-b2 receptor tyrosine kinase 2' SubClassOf 'biomarker tested in' some 'Serous carcinoma of the corpus uteri' + 'erb-b2 receptor tyrosine kinase 2' SubClassOf 'biomarker tested in' some 'Adenocarcinoma of the esophagus' Class: http://www.orpha.net/ORDO/Orphanet_371170 Label(s): nuclear factor kappa B subunit 2 - 'nuclear factor kappa B subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_98820 Label(s): Familial focal epilepsy with variable foci - 'Familial focal epilepsy with variable foci' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Familial focal epilepsy with variable foci' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_699645 Class: http://www.orpha.net/ORDO/Orphanet_1168 Label(s): Ataxia-oculomotor apraxia type 1 - 'Ataxia-oculomotor apraxia type 1' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_3325 Label(s): Heparin-induced thrombocytopenia - 'Heparin-induced thrombocytopenia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Heparin-induced thrombocytopenia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_698914 Class: http://www.orpha.net/ORDO/Orphanet_183924 Label(s): mitochondrially encoded tRNA-Leu (CUN) 2 + 'mitochondrially encoded tRNA-Leu (CUN) 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_569231 Label(s): CCR4-NOT transcription complex subunit 2 + 'CCR4-NOT transcription complex subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697764 Class: http://www.orpha.net/ORDO/Orphanet_599373 Label(s): STXBP1-related encephalopathy - 'STXBP1-related encephalopathy' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'STXBP1-related encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_291819 Label(s): enhancer of zeste 2 polycomb repressive complex 2 subunit - 'enhancer of zeste 2 polycomb repressive complex 2 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'PRC-2 complex-related overgrowth spectrum' Class: http://www.orpha.net/ORDO/Orphanet_79665 Label(s): Gardner syndrome - 'Gardner syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' - 'Gardner syndrome' SubClassOf 'part_of' some 'Genetic skin tumor or hamartoma' - 'Gardner syndrome' SubClassOf 'part_of' some 'Familial adenomatous polyposis' - 'Gardner syndrome' SubClassOf 'subtype of a disorder' - 'Gardner syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Gardner syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Gardner syndrome' SubClassOf 'Moved to' some 'Familial adenomatous polyposis' + 'Gardner syndrome' SubClassOf 'deprecated subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_426073 Label(s): salt inducible kinase 1 - 'salt inducible kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile epileptic spasms syndrome' + 'salt inducible kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697160 Class: http://www.orpha.net/ORDO/Orphanet_431087 Label(s): SUZ12 polycomb repressive complex 2 subunit - 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'PRC-2 complex-related overgrowth spectrum' Class: http://www.orpha.net/ORDO/Orphanet_141189 Label(s): Cerebrofacial arteriovenous metameric syndrome - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'group of disorders' - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'Rare arteriovenous malformation' - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'Neurovascular malformation' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Rare arteriovenous malformation' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_205590 Label(s): glutamate ionotropic receptor kainate type subunit 2 + 'glutamate ionotropic receptor kainate type subunit 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_33069 Label(s): Dravet syndrome - 'Dravet syndrome' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Dravet syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_141194 Label(s): Cerebrofacial arteriovenous metameric syndrome type 1 - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'disorder' - 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_141199 Label(s): Cerebrofacial arteriovenous metameric syndrome type 3 - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'disorder' - 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'malformation syndrome' + 'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_246689 Label(s): cAMP responsive element binding protein 1 + 'cAMP responsive element binding protein 1' SubClassOf 'part of a fusion gene in' some 'Angiomatoid fibrous histiocytoma' Class: http://www.orpha.net/ORDO/Orphanet_306498 Label(s): PTEN hamartoma tumor syndrome - 'PTEN hamartoma tumor syndrome' SubClassOf 'group of disorders' - 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' - 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' - 'PTEN hamartoma tumor syndrome' SubClassOf 'Rare skin tumor or hamartoma' - 'PTEN hamartoma tumor syndrome' SubClassOf 'Genetic skin tumor or hamartoma' + 'PTEN hamartoma tumor syndrome' SubClassOf 'disorder' + 'PTEN hamartoma tumor syndrome' SubClassOf 'disease' + 'PTEN hamartoma tumor syndrome' SubClassOf 'part_of' some 'Polymalformative genetic syndrome with increased risk of developing cancer' + 'PTEN hamartoma tumor syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'PTEN hamartoma tumor syndrome' SubClassOf 'part_of' some 'Genetic skin tumor or hamartoma' + 'PTEN hamartoma tumor syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' Class: http://www.orpha.net/ORDO/Orphanet_137608 Label(s): Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'disorder' - 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'malformation syndrome' + 'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_487242 Label(s): embryonic ectoderm development - 'embryonic ectoderm development' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'PRC-2 complex-related overgrowth spectrum' Class: http://www.orpha.net/ORDO/Orphanet_119168 Label(s): calcium voltage-gated channel auxiliary subunit beta 4 - 'calcium voltage-gated channel auxiliary subunit beta 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy' + 'calcium voltage-gated channel auxiliary subunit beta 4' SubClassOf 'major susceptibility factor in' some 'Juvenile myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_500481 Label(s): OBSOLETE: Squamous cell carcinoma of salivary glands + 'OBSOLETE: Squamous cell carcinoma of salivary glands' SubClassOf 'Referred to' some 'Malignant epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_3240 Label(s): Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome + 'Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696870 Class: http://www.orpha.net/ORDO/Orphanet_500464 Label(s): Squamous cell carcinoma of the nasal cavity and paranasal sinuses - 'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' + 'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'part_of' some 'OBSOLETE: Squamous cell carcinoma of head and neck' 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_693802 Class: http://www.orpha.net/ORDO/Orphanet_504530 Label(s): Combined immunodeficiency due to Moesin deficiency - 'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_695164 Class: http://www.orpha.net/ORDO/Orphanet_157823 Label(s): Klüver-Bucy syndrome - 'Klüver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious encephalitis' - 'Klüver-Bucy syndrome' SubClassOf 'part_of' some 'Infectious disease with epilepsy' + 'Klüver-Bucy syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_406882 Label(s): SET domain containing 5 - 'SET domain containing 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' + 'SET domain containing 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'SET domain containing 5' SubClassOf 'role in the phenotype of' some '3p25.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684305 Label(s): NOCGUS syndrome + 'NOCGUS syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_1549 Label(s): NON RARE IN EUROPE: Cryptosporidiosis - 'NON RARE IN EUROPE: Cryptosporidiosis' SubClassOf 'non rare disorder' + 'NON RARE IN EUROPE: Cryptosporidiosis' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_697096 + 'NON RARE IN EUROPE: Cryptosporidiosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_120736 Label(s): collagen type VI alpha 3 chain - 'collagen type VI alpha 3 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Collagen VI-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120734 Label(s): collagen type VI alpha 2 chain - 'collagen type VI alpha 2 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Collagen VI-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_120732 Label(s): collagen type VI alpha 1 chain - 'collagen type VI alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Collagen VI-related congenital muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_119525 Label(s): 1-acylglycerol-3-phosphate O-acyltransferase 2 - '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital generalized lipodystrophy' + '1-acylglycerol-3-phosphate O-acyltransferase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696189 Class: http://www.orpha.net/ORDO/Orphanet_71277 Label(s): Classic glucose transporter type 1 deficiency syndrome + 'Classic glucose transporter type 1 deficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_629033 Label(s): ER degradation enhancing alpha-mannosidase like protein 3 - 'ER degradation enhancing alpha-mannosidase like protein 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'ER degradation enhancing alpha-mannosidase like protein 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_695783 Class: http://www.orpha.net/ORDO/Orphanet_686498 Label(s): CTR9 homolog, Paf1/RNA polymerase II complex component + 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'has_chromosomal location' value "11p15.4" + 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'disease-causing germline mutation(s) in' some 'Nephroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_3173 Label(s): Infantile spasms-broad thumbs syndrome - 'Infantile spasms-broad thumbs syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Infantile spasms-broad thumbs syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_401911 Label(s): AXIN2-related attenuated familial adenomatous polyposis - 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' - 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'subtype of a disorder' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'disorder' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Intestinal polyposis syndrome' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'disease' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' Class: http://www.orpha.net/ORDO/Orphanet_183713 Label(s): OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency + 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf 'Referred to' some 'Transient predisposition to invasive pyogenic bacterial infection' Class: http://www.orpha.net/ORDO/Orphanet_404440 Label(s): Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'disorder' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'obsolete disorder' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Referred to' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689221 Label(s): interferon regulatory factor 1 - 'interferon regulatory factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' + 'interferon regulatory factor 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699615 Class: http://www.orpha.net/ORDO/Orphanet_160142 Label(s): complement C3d receptor 2 - 'complement C3d receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'complement C3d receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696894 Class: http://www.orpha.net/ORDO/Orphanet_332459 Label(s): TNF superfamily member 12 - 'TNF superfamily member 12' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Common variable immunodeficiency' - 'TNF superfamily member 12' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Common variable immunodeficiency' + 'TNF superfamily member 12' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696931 Class: http://www.orpha.net/ORDO/Orphanet_300493 Label(s): Sagliker syndrome + 'Sagliker syndrome' SubClassOf 'part_of' some 'Rare hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_120648 Label(s): CLN8 transmembrane ER and ERGIC protein - 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN8 disease' + 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_700484 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 http://www.orpha.net/ORDO/Orphanet_699802 + 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699812 + 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699807 Class: http://www.orpha.net/ORDO/Orphanet_120638 Label(s): CLN3 lysosomal/endosomal transmembrane protein, battenin - 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some 'CLN3 disease' + 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699796 + 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_699780 Class: http://www.orpha.net/ORDO/Orphanet_289877 Label(s): Transient hyperammonemia of the newborn - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Rare respiratory disease' + 'Transient hyperammonemia of the newborn' SubClassOf 'part_of' some 'Other metabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_189344 Label(s): potassium inwardly rectifying channel subfamily J member 10 + 'potassium inwardly rectifying channel subfamily J member 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_231397 Label(s): SET binding protein 1 - 'SET binding protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'SET binding protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83471 Label(s): T-cell immunodeficiency with thymic aplasia - 'T-cell immunodeficiency with thymic aplasia' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' + 'T-cell immunodeficiency with thymic aplasia' SubClassOf 'part_of' some 'Primary immunodeficiency due to a defect in adaptive immunity' Class: http://www.orpha.net/ORDO/Orphanet_318745 Label(s): IKAROS family zinc finger 1 + 'IKAROS family zinc finger 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_695172 + 'IKAROS family zinc finger 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_697414 Class: http://www.orpha.net/ORDO/Orphanet_119235 Label(s): CD19 molecule - 'CD19 molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'CD19 molecule' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696881 Class: http://www.orpha.net/ORDO/Orphanet_251370 Label(s): Sickle cell-hemoglobin D disease syndrome - 'Sickle cell-hemoglobin D disease syndrome' SubClassOf 'part_of' some 'Sickle cell disease associated with another hemoglobin anomaly' - 'Sickle cell-hemoglobin D disease syndrome' SubClassOf 'disorder' - 'Sickle cell-hemoglobin D disease syndrome' SubClassOf 'disease' + 'Sickle cell-hemoglobin D disease syndrome' SubClassOf 'subtype of a disorder' + 'Sickle cell-hemoglobin D disease syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_700085 Class: http://www.orpha.net/ORDO/Orphanet_183672 Label(s): OBSOLETE: Common variable immunodeficiency due to TNFR deficiency - 'OBSOLETE: Common variable immunodeficiency due to TNFR deficiency' SubClassOf 'Referred to' some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency due to TNFR deficiency' SubClassOf 'Referred to' some http://www.orpha.net/ORDO/Orphanet_696851 Class: http://www.orpha.net/ORDO/Orphanet_86909 Label(s): Myoclonic epilepsy of infancy - 'Myoclonic epilepsy of infancy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Myoclonic epilepsy of infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_3015 Label(s): Radio-renal syndrome + 'Radio-renal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_67037 Label(s): OBSOLETE: Squamous cell carcinoma of head and neck - 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf 'obsolete disorder' - 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf 'Referred to' some 'Rare otorhinolaryngologic tumor' + 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf 'group of disorders' + 'OBSOLETE: Squamous cell carcinoma of head and neck' SubClassOf 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_3006 Label(s): Pyridoxine-dependent epilepsy + 'Pyridoxine-dependent epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_64280 Label(s): Childhood absence epilepsy - 'Childhood absence epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Childhood absence epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label(s): Severe intellectual disability-progressive spastic diplegia syndrome + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Syndromic vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_619233 Label(s): Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_119382 Label(s): CF transmembrane conductance regulator - 'CF transmembrane conductance regulator' SubClassOf 'candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'CF transmembrane conductance regulator' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_700124 Class: http://www.orpha.net/ORDO/Orphanet_2804 Label(s): W syndrome - 'W syndrome' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'W syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_594702 Label(s): solute carrier family 39 member 7 - 'solute carrier family 39 member 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal agammaglobulinemia' + 'solute carrier family 39 member 7' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_693627 Class: http://www.orpha.net/ORDO/Orphanet_169910 Label(s): phosphodiesterase 11A + 'phosphodiesterase 11A' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated micronodular adrenocortical disease' + 'phosphodiesterase 11A' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated primary pigmented nodular adrenocortical disease' Class: http://www.orpha.net/ORDO/Orphanet_356947 Label(s): 3q26q27 microdeletion syndrome - '3q26q27 microdeletion syndrome' SubClassOf 'malformation syndrome' - '3q26q27 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3 syndrome' - '3q26q27 microdeletion syndrome' SubClassOf 'disorder' + '3q26q27 microdeletion syndrome' SubClassOf 'deprecated disorder' + '3q26q27 microdeletion syndrome' SubClassOf 'Moved to' some http://www.orpha.net/ORDO/Orphanet_695611 Class: http://www.orpha.net/ORDO/Orphanet_79330 Label(s): MOGS-CDG + 'MOGS-CDG' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696870 Class: http://www.orpha.net/ORDO/Orphanet_470582 Label(s): laminin subunit alpha 5 + 'laminin subunit alpha 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_505652 Label(s): CDKL5-deficiency disorder - 'CDKL5-deficiency disorder' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'CDKL5-deficiency disorder' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_693802 Class: http://www.orpha.net/ORDO/Orphanet_138486 Label(s): mediator complex subunit 12 - 'mediator complex subunit 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Blepharophimosis-intellectual disability syndrome, Ohdo type' Class: http://www.orpha.net/ORDO/Orphanet_401771 Label(s): inhibitor of nuclear factor kappa B kinase subunit beta + 'inhibitor of nuclear factor kappa B kinase subunit beta' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_700205 Class: http://www.orpha.net/ORDO/Orphanet_363746 Label(s): Balint syndrome - 'Balint syndrome' SubClassOf 'disease' + 'Balint syndrome' SubClassOf 'Clinical syndrome' + 'Balint syndrome' SubClassOf 'part_of' some 'Rare ophthalmic disorder with cortical involvement' Class: http://www.orpha.net/ORDO/Orphanet_139557 Label(s): X-linked distal spinal muscular atrophy type 3 + 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'part_of' some 'Disorder of copper metabolism' Class: http://www.orpha.net/ORDO/Orphanet_231205 Label(s): OBSOLETE: Common variable immunodeficiency without known genetic defect - 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf 'Referred to' some 'Common variable immunodeficiency' + 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_696851 + 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf 'disorder' + 'OBSOLETE: Common variable immunodeficiency without known genetic defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_442835 Label(s): Non-specific early-onset epileptic encephalopathy - 'Non-specific early-onset epileptic encephalopathy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' - 'Non-specific early-onset epileptic encephalopathy' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Non-specific early-onset epileptic encephalopathy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_445669 Label(s): MN1 proto-oncogene, transcriptional regulator + 'MN1 proto-oncogene, transcriptional regulator' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_693549 Class: http://www.orpha.net/ORDO/Orphanet_263516 Label(s): Progressive myoclonic epilepsy type 3 - 'Progressive myoclonic epilepsy type 3' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_436151 Label(s): OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome - 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'obsolete disorder' - 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'Referred to' some 'Non-specific syndromic intellectual disability' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Specific language disorder' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_689001 Label(s): Isolated spontaneous vertebral artery dissection + 'Isolated spontaneous vertebral artery dissection' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' Class: http://www.orpha.net/ORDO/Orphanet_556328 Label(s): interferon regulatory factor 2 binding protein 2 - 'interferon regulatory factor 2 binding protein 2' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Common variable immunodeficiency' + 'interferon regulatory factor 2 binding protein 2' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_696904 Class: http://www.orpha.net/ORDO/Orphanet_79242 Label(s): Holocarboxylase synthetase deficiency - 'Holocarboxylase synthetase deficiency' SubClassOf 'part_of' some 'Multiple carboxylase deficiency' + 'Holocarboxylase synthetase deficiency' SubClassOf 'part_of' some 'Disorder of other vitamins and cofactors metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_79241 Label(s): Biotinidase deficiency - 'Biotinidase deficiency' SubClassOf 'part_of' some 'Multiple carboxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_51636 Label(s): WHIM syndrome + 'WHIM syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'WHIM syndrome' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label(s): Nasal ganglioglioma - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Ganglioglioma' Class: http://www.orpha.net/ORDO/Orphanet_438054 Label(s): nuclear factor kappa B subunit 1 - 'nuclear factor kappa B subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'nuclear factor kappa B subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_696874 Class: http://www.orpha.net/ORDO/Orphanet_631338 Label(s): TBC1 domain family member 2B - 'TBC1 domain family member 2B' SubClassOf 'gene with protein product' - 'TBC1 domain family member 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' - 'TBC1 domain family member 2B' SubClassOf 'has_chromosomal location' value "15q24.3-q25.1" Class: http://www.orpha.net/ORDO/Orphanet_209481 Label(s): growth differentiation factor 6 + 'growth differentiation factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Multiple synostoses syndrome' 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 http://www.orpha.net/ORDO/Orphanet_699593 Class: http://www.orpha.net/ORDO/Orphanet_458247 Label(s): PLAG1 zinc finger + 'PLAG1 zinc finger' SubClassOf 'part of a fusion gene in' some 'Benign epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_268920 Label(s): Isolated megalencephaly - 'Isolated megalencephaly' SubClassOf 'subtype of a disorder' - 'Isolated megalencephaly' SubClassOf 'part_of' some 'Megalencephaly' - 'Isolated megalencephaly' SubClassOf 'part_of' some 'Genetic cerebral malformation' + 'Isolated megalencephaly' SubClassOf 'obsolete subtype of disorder' + 'Isolated megalencephaly' SubClassOf 'Referred to' some 'Megalencephaly' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_697417 Label(s): Common variable immunodeficiency phenotype due to SEC61A1 deficiency + 'Common variable immunodeficiency phenotype due to SEC61A1 deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to SEC61A1 deficiency' SubClassOf 'disorder' + 'Common variable immunodeficiency phenotype due to SEC61A1 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' Class: http://www.orpha.net/ORDO/Orphanet_694356 Label(s): ADAR-related hereditary spastic paraplegia + 'ADAR-related hereditary spastic paraplegia' SubClassOf 'disorder' + 'ADAR-related hereditary spastic paraplegia' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' + 'ADAR-related hereditary spastic paraplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699835 Label(s): Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'malformation syndrome' + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_692790 Label(s): ATP6AP1-CDG + 'ATP6AP1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'ATP6AP1-CDG' SubClassOf 'part_of' some 'Defect in V-ATPase' + 'ATP6AP1-CDG' SubClassOf 'disease' + 'ATP6AP1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' + 'ATP6AP1-CDG' SubClassOf 'disorder' + 'ATP6AP1-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with hepatic involvement' Class: http://www.orpha.net/ORDO/Orphanet_700333 Label(s): Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency + 'Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency' SubClassOf 'subtype of a disorder' + 'Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency' SubClassOf 'part_of' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_700746 Label(s): OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders + 'OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders' SubClassOf 'obsolete group of disorder' + 'OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders' SubClassOf 'Referred to' some 'Common variable immunodeficiency and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_700472 Label(s): Juvenile CLN6 disease + 'Juvenile CLN6 disease' SubClassOf 'subtype of a disorder' + 'Juvenile CLN6 disease' SubClassOf 'part_of' some 'CLN6 disease' Class: http://www.orpha.net/ORDO/Orphanet_700484 Label(s): Late infantile CLN8 disease + 'Late infantile CLN8 disease' SubClassOf 'subtype of a disorder' + 'Late infantile CLN8 disease' SubClassOf 'part_of' some 'CLN8 disease' Class: http://www.orpha.net/ORDO/Orphanet_700492 Label(s): Late infantile CLN10 disease + 'Late infantile CLN10 disease' SubClassOf 'part_of' some 'CLN10 disease' + 'Late infantile CLN10 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_706153 Label(s): gremlin 2, DAN family BMP antagonist + 'gremlin 2, DAN family BMP antagonist' SubClassOf 'disease-causing germline mutation(s) in' some 'Oligodontia' + 'gremlin 2, DAN family BMP antagonist' SubClassOf 'has_chromosomal location' value "1q43" + 'gremlin 2, DAN family BMP antagonist' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_697342 Label(s): germ cell nuclear acidic peptidase + 'germ cell nuclear acidic peptidase' SubClassOf 'gene with protein product' + 'germ cell nuclear acidic peptidase' SubClassOf 'has_chromosomal location' value "Xq13.1" + 'germ cell nuclear acidic peptidase' 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_700124 Label(s): Autosomal recessive hereditary chronic pancreatitis + 'Autosomal recessive hereditary chronic pancreatitis' SubClassOf 'disorder' + 'Autosomal recessive hereditary chronic pancreatitis' SubClassOf 'disease' + 'Autosomal recessive hereditary chronic pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' + 'Autosomal recessive hereditary chronic pancreatitis' SubClassOf 'part_of' some 'Genetic pancreatic disease' Class: http://www.orpha.net/ORDO/Orphanet_698260 Label(s): Carotid web + 'Carotid web' SubClassOf 'disorder' + 'Carotid web' SubClassOf 'part_of' some 'Rare vascular malformation of major vessels' + 'Carotid web' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699060 Label(s): programmed cell death 6 interacting protein + 'programmed cell death 6 interacting protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'programmed cell death 6 interacting protein' SubClassOf 'gene with protein product' + 'programmed cell death 6 interacting protein' SubClassOf 'has_chromosomal location' value "3p22.3" Class: http://www.orpha.net/ORDO/Orphanet_696242 Label(s): PPARG-associated congenital generalized lipodystrophy + 'PPARG-associated congenital generalized lipodystrophy' SubClassOf 'part_of' some 'Congenital generalized lipodystrophy' + 'PPARG-associated congenital generalized lipodystrophy' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_697986 Label(s): Congenital peritoneal encapsulation + 'Congenital peritoneal encapsulation' SubClassOf 'malformation syndrome' + 'Congenital peritoneal encapsulation' SubClassOf 'part_of' some 'Non-syndromic diaphragmatic or abdominal wall malformation' + 'Congenital peritoneal encapsulation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_698085 Label(s): Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome + 'Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome' SubClassOf 'disorder' + 'Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_695038 Label(s): Small omphalocele + 'Small omphalocele' SubClassOf 'subtype of a disorder' + 'Small omphalocele' SubClassOf 'part_of' some 'Omphalocele' Class: http://www.orpha.net/ORDO/Orphanet_698069 Label(s): Fibromuscular dysplasia of the arteries of the extremities + 'Fibromuscular dysplasia of the arteries of the extremities' SubClassOf 'subtype of a disorder' + 'Fibromuscular dysplasia of the arteries of the extremities' SubClassOf 'part_of' some 'Fibromuscular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_698059 Label(s): Fibromuscular dysplasia of the coronary arteries + 'Fibromuscular dysplasia of the coronary arteries' SubClassOf 'subtype of a disorder' + 'Fibromuscular dysplasia of the coronary arteries' SubClassOf 'part_of' some 'Fibromuscular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_698012 Label(s): Fibromuscular dysplasia + 'Fibromuscular dysplasia' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' + 'Fibromuscular dysplasia' SubClassOf 'disease' + 'Fibromuscular dysplasia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_695191 Label(s): Late-onset combined immunodeficiency due to ICOSL deficiency + 'Late-onset combined immunodeficiency due to ICOSL deficiency' SubClassOf 'disorder' + 'Late-onset combined immunodeficiency due to ICOSL deficiency' SubClassOf 'disease' + 'Late-onset combined immunodeficiency due to ICOSL deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' Class: http://www.orpha.net/ORDO/Orphanet_695172 Label(s): Combined immunodeficiency due to dimerization defective IKAROS mutation + 'Combined immunodeficiency due to dimerization defective IKAROS mutation' SubClassOf 'part_of' some 'Combined immunodeficiency with low B cells' + 'Combined immunodeficiency due to dimerization defective IKAROS mutation' SubClassOf 'disorder' + 'Combined immunodeficiency due to dimerization defective IKAROS mutation' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' + 'Combined immunodeficiency due to dimerization defective IKAROS mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_695164 Label(s): Combined immunodeficiency with low B cells + 'Combined immunodeficiency with low B cells' SubClassOf 'group of disorders' + 'Combined immunodeficiency with low B cells' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_695147 Label(s): Sickle cell-beta plus-thalassemia + 'Sickle cell-beta plus-thalassemia' SubClassOf 'subtype of a disorder' + 'Sickle cell-beta plus-thalassemia' SubClassOf 'part_of' some 'Sickle cell-beta-thalassemia disease syndrome' Class: http://www.orpha.net/ORDO/Orphanet_695140 Label(s): Sickle cell-beta zero-thalassemia + 'Sickle cell-beta zero-thalassemia' SubClassOf 'subtype of a disorder' + 'Sickle cell-beta zero-thalassemia' SubClassOf 'part_of' some 'Sickle cell-beta-thalassemia disease syndrome' Class: http://www.orpha.net/ORDO/Orphanet_695136 Label(s): Infant-type hemispheric glioma + 'Infant-type hemispheric glioma' SubClassOf 'disease' + 'Infant-type hemispheric glioma' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Infant-type hemispheric glioma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_695131 Label(s): Acinar cystic transformation of the pancreas + 'Acinar cystic transformation of the pancreas' SubClassOf 'disease' + 'Acinar cystic transformation of the pancreas' SubClassOf 'part_of' some 'Rare pancreatic disease' + 'Acinar cystic transformation of the pancreas' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_695110 Label(s): MAN2B2-CDG + 'MAN2B2-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'MAN2B2-CDG' SubClassOf 'disease' + 'MAN2B2-CDG' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'MAN2B2-CDG' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_694960 Label(s): zinc finger and BTB domain containing 7A + 'zinc finger and BTB domain containing 7A' SubClassOf 'gene with protein product' + 'zinc finger and BTB domain containing 7A' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' + 'zinc finger and BTB domain containing 7A' SubClassOf 'has_chromosomal location' value "19p13.3" Class: http://www.orpha.net/ORDO/Orphanet_694956 Label(s): Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'disorder' + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_707149 Label(s): proteasome 20S subunit beta 10 + 'proteasome 20S subunit beta 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'proteasome 20S subunit beta 10' SubClassOf 'gene with protein product' + 'proteasome 20S subunit beta 10' SubClassOf 'has_chromosomal location' value "16q22.1" Class: http://www.orpha.net/ORDO/Orphanet_707143 Label(s): coiled-coil domain containing 91 + 'coiled-coil domain containing 91' SubClassOf 'disease-causing germline mutation(s) in' some 'Acrokeratoelastoidosis of Costa' + 'coiled-coil domain containing 91' SubClassOf 'gene with protein product' + 'coiled-coil domain containing 91' SubClassOf 'has_chromosomal location' value "12p11.22" Class: http://www.orpha.net/ORDO/Orphanet_694946 Label(s): Alazami-Yuan syndrome + 'Alazami-Yuan syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Alazami-Yuan syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alazami-Yuan syndrome' SubClassOf 'disorder' + 'Alazami-Yuan syndrome' SubClassOf 'part_of' some 'Rare disorder with hypertrichosis' + 'Alazami-Yuan syndrome' SubClassOf 'malformation syndrome' + 'Alazami-Yuan syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Alazami-Yuan syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_694937 Label(s): Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'disorder' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'malformation syndrome' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'part_of' some 'Rare hereditary neurologic disease with peripheral neuropathy' + 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_697764 Label(s): Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation' SubClassOf 'subtype of a disorder' + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation' SubClassOf 'part_of' some 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_697760 Label(s): Intellectual disability-nasal speech-craniofacial dysmorphism syndrome + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome' SubClassOf 'disorder' + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-nasal speech-craniofacial dysmorphism syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_695020 Label(s): Urachal carcinoma + 'Urachal carcinoma' SubClassOf 'disorder' + 'Urachal carcinoma' SubClassOf 'disease' + 'Urachal carcinoma' SubClassOf 'part_of' some 'Rare urinary tract tumor' Class: http://www.orpha.net/ORDO/Orphanet_692296 Label(s): Idiopathic triglyceride deposit cardiomyovasculopathy + 'Idiopathic triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Triglyceride deposit cardiomyovasculopathy' + 'Idiopathic triglyceride deposit cardiomyovasculopathy' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_691869 Label(s): valyl-tRNA synthetase 2, mitochondrial + 'valyl-tRNA synthetase 2, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 20' + 'valyl-tRNA synthetase 2, mitochondrial' SubClassOf 'gene with protein product' + 'valyl-tRNA synthetase 2, mitochondrial' SubClassOf 'has_chromosomal location' value "6p21.33" Class: http://www.orpha.net/ORDO/Orphanet_692271 Label(s): Cerebral proliferative angiopathy + 'Cerebral proliferative angiopathy' SubClassOf 'part_of' some 'Rare headache' + 'Cerebral proliferative angiopathy' SubClassOf 'disease' + 'Cerebral proliferative angiopathy' SubClassOf 'part_of' some 'Cerebral diseases of vascular origin with epilepsy' + 'Cerebral proliferative angiopathy' SubClassOf 'disorder' + 'Cerebral proliferative angiopathy' SubClassOf 'part_of' some 'Rare arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_692305 Label(s): Triglyceride deposit cardiomyovasculopathy + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf 'disease' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Neutral lipid storage disease' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Unclassified cardiomyopathy' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf 'disorder' + 'Triglyceride deposit cardiomyovasculopathy' SubClassOf 'part_of' some 'Rare disorder potentially indicated for heart transplant' Class: http://www.orpha.net/ORDO/Orphanet_693832 Label(s): Gastrointestinal tract arteriovenous malformation + 'Gastrointestinal tract arteriovenous malformation' SubClassOf 'disorder' + 'Gastrointestinal tract arteriovenous malformation' SubClassOf 'part_of' some 'Rare abdominal surgical disease' + 'Gastrointestinal tract arteriovenous malformation' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Gastrointestinal tract arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Gastrointestinal tract arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_694304 Label(s): ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome' SubClassOf 'disorder' + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome' SubClassOf 'disease' + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_695183 Label(s): Late-onset combined immunodeficiency due to ICOS deficiency + 'Late-onset combined immunodeficiency due to ICOS deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Late-onset combined immunodeficiency due to ICOS deficiency' SubClassOf 'disease' + 'Late-onset combined immunodeficiency due to ICOS deficiency' SubClassOf 'disorder' 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 'disorder' + '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 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_698643 Label(s): IKAROS family zinc finger 2 + 'IKAROS family zinc finger 2' SubClassOf 'gene with protein product' + 'IKAROS family zinc finger 2' SubClassOf 'disease-causing germline mutation(s) in' some 'ICHAD syndrome' + 'IKAROS family zinc finger 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to HELIOS deficiency' + 'IKAROS family zinc finger 2' SubClassOf 'has_chromosomal location' value "2q34" Class: http://www.orpha.net/ORDO/Orphanet_699697 Label(s): Necrotizing fasciitis + 'Necrotizing fasciitis' SubClassOf 'subtype of a disorder' + 'Necrotizing fasciitis' SubClassOf 'part_of' some 'Necrotizing soft tissue infection' Class: http://www.orpha.net/ORDO/Orphanet_692256 Label(s): Isolated anogenital granulomatosis + 'Isolated anogenital granulomatosis' SubClassOf 'part_of' some 'Rare non-malformative uterovaginal or vulvovaginal disease' + 'Isolated anogenital granulomatosis' SubClassOf 'part_of' some 'Other dermis disorder' + 'Isolated anogenital granulomatosis' SubClassOf 'disorder' + 'Isolated anogenital granulomatosis' SubClassOf 'disease' + 'Isolated anogenital granulomatosis' SubClassOf 'part_of' some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_695032 Label(s): Giant omphalocele + 'Giant omphalocele' SubClassOf 'subtype of a disorder' + 'Giant omphalocele' SubClassOf 'part_of' some 'Omphalocele' Class: http://www.orpha.net/ORDO/Orphanet_695023 Label(s): Pure squamous carcinoma of the urothelial tract + 'Pure squamous carcinoma of the urothelial tract' SubClassOf 'part_of' some 'Rare urinary tract tumor' + 'Pure squamous carcinoma of the urothelial tract' SubClassOf 'disorder' + 'Pure squamous carcinoma of the urothelial tract' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_695005 Label(s): Ras related GTP binding D + 'Ras related GTP binding D' SubClassOf 'gene with protein product' + 'Ras related GTP binding D' SubClassOf 'disease-causing germline mutation(s) in' some 'Kidney tubulopathy-dilated cardiomyopathy syndrome' + 'Ras related GTP binding D' SubClassOf 'has_chromosomal location' value "6q15" Class: http://www.orpha.net/ORDO/Orphanet_694922 Label(s): Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome + 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' SubClassOf 'disorder' + 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' + 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' SubClassOf 'disease' + 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_694928 Label(s): ADP-ribosylserine hydrolase + 'ADP-ribosylserine hydrolase' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome' + 'ADP-ribosylserine hydrolase' SubClassOf 'gene with protein product' + 'ADP-ribosylserine hydrolase' SubClassOf 'has_chromosomal location' value "1p34.3" Class: http://www.orpha.net/ORDO/Orphanet_694942 Label(s): nudix hydrolase 2 + 'nudix hydrolase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency' + 'nudix hydrolase 2' SubClassOf 'has_chromosomal location' value "9p13.3" + 'nudix hydrolase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_694963 Label(s): Inflammatory breast cancer + 'Inflammatory breast cancer' SubClassOf 'disease' + 'Inflammatory breast cancer' SubClassOf 'disorder' + 'Inflammatory breast cancer' SubClassOf 'part_of' some 'Rare malignant breast tumor' Class: http://www.orpha.net/ORDO/Orphanet_692193 Label(s): CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome + 'CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'malformation syndrome' + 'CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_692173 Label(s): Marbach-Schaaf neurodevelopmental syndrome + 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'disease' + 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'disorder' + 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_692144 Label(s): gliomedin + 'gliomedin' SubClassOf 'gene with protein product' + 'gliomedin' SubClassOf 'has_chromosomal location' value "15q21.2" + 'gliomedin' SubClassOf 'disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_698036 Label(s): Fibromuscular dysplasia of the cervical and intracranial arteries + 'Fibromuscular dysplasia of the cervical and intracranial arteries' SubClassOf 'subtype of a disorder' + 'Fibromuscular dysplasia of the cervical and intracranial arteries' SubClassOf 'part_of' some 'Fibromuscular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_698063 Label(s): Fibromuscular dysplasia of the visceral arteries + 'Fibromuscular dysplasia of the visceral arteries' SubClassOf 'subtype of a disorder' + 'Fibromuscular dysplasia of the visceral arteries' SubClassOf 'part_of' some 'Fibromuscular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_698090 Label(s): Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome + 'Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'disorder' + 'Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_700329 Label(s): NFKB activating protein + 'NFKB activating protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' + 'NFKB activating protein' SubClassOf 'gene with protein product' + 'NFKB activating protein' SubClassOf 'has_chromosomal location' value "Xq24" Class: http://www.orpha.net/ORDO/Orphanet_703899 Label(s): transmembrane protein 147 + 'transmembrane protein 147' SubClassOf 'gene with protein product' + 'transmembrane protein 147' SubClassOf 'has_chromosomal location' value "19q13.12" + 'transmembrane protein 147' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_707145 Label(s): ubiquitin associated protein 1 like + 'ubiquitin associated protein 1 like' SubClassOf 'has_chromosomal location' value "15q22.31" + 'ubiquitin associated protein 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'ubiquitin associated protein 1 like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_703897 Label(s): SH3 domain containing kinase binding protein 1 + 'SH3 domain containing kinase binding protein 1' SubClassOf 'gene with protein product' + 'SH3 domain containing kinase binding protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency' + 'SH3 domain containing kinase binding protein 1' SubClassOf 'has_chromosomal location' value "Xp22.12" Class: http://www.orpha.net/ORDO/Orphanet_703895 Label(s): SEC61 translocon subunit alpha 1 + 'SEC61 translocon subunit alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency phenotype due to SEC61A1 deficiency' + 'SEC61 translocon subunit alpha 1' SubClassOf 'gene with protein product' + 'SEC61 translocon subunit alpha 1' SubClassOf 'has_chromosomal location' value "3q21.3" Class: http://www.orpha.net/ORDO/Orphanet_697414 Label(s): Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation + 'Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation' SubClassOf 'disease' + 'Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_698005 Label(s): Epilepsy with generalized tonic-clonic seizures alone + 'Epilepsy with generalized tonic-clonic seizures alone' SubClassOf 'part_of' some 'Variable age-onset epilepsy syndrome' + 'Epilepsy with generalized tonic-clonic seizures alone' SubClassOf 'disorder' + 'Epilepsy with generalized tonic-clonic seizures alone' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_697403 Label(s): Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency + 'Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency' SubClassOf 'disorder' + 'Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency' SubClassOf 'disease' + 'Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' Class: http://www.orpha.net/ORDO/Orphanet_697053 Label(s): Talaromycosis + 'Talaromycosis' SubClassOf 'disease' + 'Talaromycosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Talaromycosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_697734 Label(s): ST3GAL3-CDG + 'ST3GAL3-CDG' SubClassOf 'disease' + 'ST3GAL3-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'ST3GAL3-CDG' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_697389 Label(s): Combined immunodeficiency due to HELIOS deficiency + 'Combined immunodeficiency due to HELIOS deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to HELIOS deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to HELIOS deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_697385 Label(s): Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency + 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'disease' + 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_697348 Label(s): ubiquitin specific peptidase 26 + 'ubiquitin specific peptidase 26' SubClassOf 'has_chromosomal location' value "Xq26.2" + 'ubiquitin specific peptidase 26' SubClassOf 'gene with protein product' + 'ubiquitin specific peptidase 26' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_696175 Label(s): Encapsulating peritoneal sclerosis + 'Encapsulating peritoneal sclerosis' SubClassOf 'disease' + 'Encapsulating peritoneal sclerosis' SubClassOf 'part_of' some 'Rare abdominal surgical disease' + 'Encapsulating peritoneal sclerosis' SubClassOf 'part_of' some 'Rare gastroenterologic disease' + 'Encapsulating peritoneal sclerosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_691617 Label(s): N-alpha-acetyltransferase 60, NatF catalytic subunit + 'N-alpha-acetyltransferase 60, NatF catalytic subunit' SubClassOf 'has_chromosomal location' value "16p13.3" + 'N-alpha-acetyltransferase 60, NatF catalytic subunit' SubClassOf 'gene with protein product' + 'N-alpha-acetyltransferase 60, NatF catalytic subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Bilateral striopallidodentate calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_694473 Label(s): folliculin interacting protein 1 + 'folliculin interacting protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' + 'folliculin interacting protein 1' SubClassOf 'gene with protein product' + 'folliculin interacting protein 1' SubClassOf 'has_chromosomal location' value "5q31.1" Class: http://www.orpha.net/ORDO/Orphanet_694446 Label(s): ATPase H+ transporting accessory protein 1 + 'ATPase H+ transporting accessory protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'ATP6AP1-CDG' + 'ATPase H+ transporting accessory protein 1' SubClassOf 'gene with protein product' + 'ATPase H+ transporting accessory protein 1' SubClassOf 'has_chromosomal location' value "Xq28" Class: http://www.orpha.net/ORDO/Orphanet_698043 Label(s): Fibromuscular dysplasia of the renal arteries + 'Fibromuscular dysplasia of the renal arteries' SubClassOf 'subtype of a disorder' + 'Fibromuscular dysplasia of the renal arteries' SubClassOf 'part_of' some 'Fibromuscular dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_707177 Label(s): REL proto-oncogene, NF-kB subunit + 'REL proto-oncogene, NF-kB subunit' SubClassOf 'gene with protein product' + 'REL proto-oncogene, NF-kB subunit' SubClassOf 'has_chromosomal location' value "2p16.1" + 'REL proto-oncogene, NF-kB subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to c-REL deficiency' Class: http://www.orpha.net/ORDO/Orphanet_699850 Label(s): 2p25.3 microduplication syndrome + '2p25.3 microduplication syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + '2p25.3 microduplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 2 syndrome' + '2p25.3 microduplication syndrome' SubClassOf 'disorder' + '2p25.3 microduplication syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_422348 Label(s): protein kinase D1 + 'protein kinase D1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Malignant epithelial tumor of salivary glands' + 'protein kinase D1' SubClassOf 'gene with protein product' + 'protein kinase D1' SubClassOf 'has_chromosomal location' value "14q12" Class: http://www.orpha.net/ORDO/Orphanet_699844 Label(s): Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'disorder' + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_700789 Label(s): F-box protein 11 + 'F-box protein 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'F-box protein 11' SubClassOf 'has_chromosomal location' value "2p16.3" + 'F-box protein 11' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_699822 Label(s): Sickle cell S-Lepore disease + 'Sickle cell S-Lepore disease' SubClassOf 'subtype of a disorder' + 'Sickle cell S-Lepore disease' SubClassOf 'part_of' some 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' Class: http://www.orpha.net/ORDO/Orphanet_699812 Label(s): Adult CLN5 disease + 'Adult CLN5 disease' SubClassOf 'subtype of a disorder' + 'Adult CLN5 disease' SubClassOf 'part_of' some 'CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_699807 Label(s): Juvenile CLN5 disease + 'Juvenile CLN5 disease' SubClassOf 'subtype of a disorder' + 'Juvenile CLN5 disease' SubClassOf 'part_of' some 'CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_699802 Label(s): Late infantile CLN5 disease + 'Late infantile CLN5 disease' SubClassOf 'part_of' some 'CLN5 disease' + 'Late infantile CLN5 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_696603 Label(s): UPF1 RNA helicase and ATPase + 'UPF1 RNA helicase and ATPase' SubClassOf 'gene with protein product' + 'UPF1 RNA helicase and ATPase' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'UPF1 RNA helicase and ATPase' SubClassOf 'has_chromosomal location' value "19p13.11" Class: http://www.orpha.net/ORDO/Orphanet_691522 Label(s): methyl-CpG binding domain 4, DNA glycosylase + 'methyl-CpG binding domain 4, DNA glycosylase' SubClassOf 'gene with protein product' + 'methyl-CpG binding domain 4, DNA glycosylase' SubClassOf 'disease-causing germline mutation(s) in' some 'MBD4-related tumor predisposition syndrome' + 'methyl-CpG binding domain 4, DNA glycosylase' SubClassOf 'has_chromosomal location' value "3q21.3" Class: http://www.orpha.net/ORDO/Orphanet_693846 Label(s): Hepatic arteriovenous malformation + 'Hepatic arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Hepatic arteriovenous malformation' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' + 'Hepatic arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Hepatic arteriovenous malformation' SubClassOf 'part_of' some 'Rare vascular liver disease' + 'Hepatic arteriovenous malformation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_694367 Label(s): advillin + 'advillin' SubClassOf 'has_chromosomal location' value "12q14.1" + 'advillin' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary steroid-resistant nephrotic syndrome' + 'advillin' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_695611 Label(s): 3q26q28 deletion syndrome + '3q26q28 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q26q28 deletion syndrome' SubClassOf 'malformation syndrome' + '3q26q28 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q26q28 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3 syndrome' + '3q26q28 deletion syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_694308 Label(s): ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation' SubClassOf 'subtype of a disorder' + 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation' SubClassOf 'part_of' some 'ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_697160 Label(s): Infantile epileptic spasms syndrome + 'Infantile epileptic spasms syndrome' SubClassOf 'part_of' some 'Neonatal-infantile onset epilepsy syndrome' + 'Infantile epileptic spasms syndrome' SubClassOf 'disorder' + 'Infantile epileptic spasms syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_698499 Label(s): NUTM2B antisense RNA 1 + 'NUTM2B antisense RNA 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Oculopharyngodistal myopathy' + 'NUTM2B antisense RNA 1' SubClassOf 'non coding RNA' + 'NUTM2B antisense RNA 1' SubClassOf 'has_chromosomal location' value "10q22.3" Class: http://www.orpha.net/ORDO/Orphanet_697132 Label(s): Lymphoepithelial cyst of the pancreas + 'Lymphoepithelial cyst of the pancreas' SubClassOf 'disorder' + 'Lymphoepithelial cyst of the pancreas' SubClassOf 'part_of' some 'Rare pancreatic disease' + 'Lymphoepithelial cyst of the pancreas' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_700111 Label(s): Homozygous hemoglobin O Arab disease + 'Homozygous hemoglobin O Arab disease' SubClassOf 'part_of' some 'Hemoglobinopathy' + 'Homozygous hemoglobin O Arab disease' SubClassOf 'disease' + 'Homozygous hemoglobin O Arab disease' SubClassOf 'disorder' + 'Homozygous hemoglobin O Arab disease' SubClassOf 'part_of' some 'Genetic hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_697101 Label(s): Fontaine progeroid syndrome + 'Fontaine progeroid syndrome' SubClassOf 'part_of' some 'Rare developmental defect with connective tissue involvement' + 'Fontaine progeroid syndrome' SubClassOf 'disorder' + 'Fontaine progeroid syndrome' SubClassOf 'disease' + 'Fontaine progeroid syndrome' SubClassOf 'part_of' some 'Premature aging' + 'Fontaine progeroid syndrome' SubClassOf 'part_of' some 'Rare hereditary connective tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_696945 Label(s): X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency + 'X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency' SubClassOf 'disorder' + 'X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_696942 Label(s): Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency + 'Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency' SubClassOf 'disorder' + 'Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_696931 Label(s): Common variable immunodeficiency phenotype due to TWEAK deficiency + 'Common variable immunodeficiency phenotype due to TWEAK deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Common variable immunodeficiency phenotype due to TWEAK deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to TWEAK deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_699796 Label(s): Protracted juvenile CLN3 disease + 'Protracted juvenile CLN3 disease' SubClassOf 'subtype of a disorder' + 'Protracted juvenile CLN3 disease' SubClassOf 'part_of' some 'CLN3 disease' Class: http://www.orpha.net/ORDO/Orphanet_700139 Label(s): Late-onset idiopathic chronic pancreatitis + 'Late-onset idiopathic chronic pancreatitis' SubClassOf 'subtype of a disorder' + 'Late-onset idiopathic chronic pancreatitis' SubClassOf 'part_of' some 'Idiopathic chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_699780 Label(s): Juvenile CLN3 disease + 'Juvenile CLN3 disease' SubClassOf 'subtype of a disorder' + 'Juvenile CLN3 disease' SubClassOf 'part_of' some 'CLN3 disease' Class: http://www.orpha.net/ORDO/Orphanet_700143 Label(s): X-linked distal myopathy + 'X-linked distal myopathy' SubClassOf 'group of disorders' + 'X-linked distal myopathy' SubClassOf 'Distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_696907 Label(s): Common variable immunodeficiency phenotype due to homozygous TACI deficiency + 'Common variable immunodeficiency phenotype due to homozygous TACI deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to homozygous TACI deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Common variable immunodeficiency phenotype due to homozygous TACI deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_696904 Label(s): Common variable immunodeficiency phenotype due to IRF2BP2 deficiency + 'Common variable immunodeficiency phenotype due to IRF2BP2 deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to IRF2BP2 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Common variable immunodeficiency phenotype due to IRF2BP2 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_699769 Label(s): Juvenile CLN2 disease + 'Juvenile CLN2 disease' SubClassOf 'part_of' some 'CLN2 disease' + 'Juvenile CLN2 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_699761 Label(s): Late infantile CLN2 disease + 'Late infantile CLN2 disease' SubClassOf 'part_of' some 'CLN2 disease' + 'Late infantile CLN2 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_700154 Label(s): TARDBP-related predominantly upper-limb distal myopathy + 'TARDBP-related predominantly upper-limb distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'TARDBP-related predominantly upper-limb distal myopathy' SubClassOf 'disorder' + 'TARDBP-related predominantly upper-limb distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699751 Label(s): Infantile CLN2 disease + 'Infantile CLN2 disease' SubClassOf 'subtype of a disorder' + 'Infantile CLN2 disease' SubClassOf 'part_of' some 'CLN2 disease' Class: http://www.orpha.net/ORDO/Orphanet_699745 Label(s): Adult CLN1 disease + 'Adult CLN1 disease' SubClassOf 'part_of' some 'CLN1 disease' + 'Adult CLN1 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_699739 Label(s): Juvenile CLN1 disease + 'Juvenile CLN1 disease' SubClassOf 'subtype of a disorder' + 'Juvenile CLN1 disease' SubClassOf 'part_of' some 'CLN1 disease' Class: http://www.orpha.net/ORDO/Orphanet_699734 Label(s): Late infantile CLN1 disease + 'Late infantile CLN1 disease' SubClassOf 'subtype of a disorder' + 'Late infantile CLN1 disease' SubClassOf 'part_of' some 'CLN1 disease' Class: http://www.orpha.net/ORDO/Orphanet_700170 Label(s): Asymetric thumb-handgrip weakness-distal myopathy + 'Asymetric thumb-handgrip weakness-distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Asymetric thumb-handgrip weakness-distal myopathy' SubClassOf 'disorder' + 'Asymetric thumb-handgrip weakness-distal myopathy' SubClassOf 'disease' + 'Asymetric thumb-handgrip weakness-distal myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_700173 Label(s): DnaJ heat shock protein family (Hsp40) member B4 + 'DnaJ heat shock protein family (Hsp40) member B4' SubClassOf 'disease-causing germline mutation(s) in' some 'Asymetric thumb-handgrip weakness-distal myopathy' + 'DnaJ heat shock protein family (Hsp40) member B4' SubClassOf 'gene with protein product' + 'DnaJ heat shock protein family (Hsp40) member B4' SubClassOf 'has_chromosomal location' value "1p31.1" Class: http://www.orpha.net/ORDO/Orphanet_699718 Label(s): Infantile CLN1 disease + 'Infantile CLN1 disease' SubClassOf 'subtype of a disorder' + 'Infantile CLN1 disease' SubClassOf 'part_of' some 'CLN1 disease' Class: http://www.orpha.net/ORDO/Orphanet_699708 Label(s): CLN14 disease + 'CLN14 disease' SubClassOf 'disease' + 'CLN14 disease' SubClassOf 'disorder' + 'CLN14 disease' SubClassOf 'part_of' some 'Neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_699702 Label(s): Necrotizing myositis + 'Necrotizing myositis' SubClassOf 'subtype of a disorder' + 'Necrotizing myositis' SubClassOf 'part_of' some 'Necrotizing soft tissue infection' Class: http://www.orpha.net/ORDO/Orphanet_691271 Label(s): transmembrane protein 260 + 'transmembrane protein 260' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Structural heart defects-renal anomalies syndrome' + 'transmembrane protein 260' SubClassOf 'gene with protein product' + 'transmembrane protein 260' SubClassOf 'has_chromosomal location' value "14q22.3" Class: http://www.orpha.net/ORDO/Orphanet_694228 Label(s): Congenital intrahepatic arterioportal fistula + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'disorder' + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Congenital arteriovenous fistula' + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'malformation syndrome' + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_696897 Label(s): Congenital megaprepuce + 'Congenital megaprepuce' SubClassOf 'part_of' some 'Non-syndromic urogenital tract malformation of male' + 'Congenital megaprepuce' SubClassOf 'Morphological anomaly' + 'Congenital megaprepuce' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_696894 Label(s): Common variable immunodeficiency phenotype due to CD21 deficiency + 'Common variable immunodeficiency phenotype due to CD21 deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to CD21 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Common variable immunodeficiency phenotype due to CD21 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_696881 Label(s): Common variable immunodeficiency phenotype due to CD19/CD81 deficiency + 'Common variable immunodeficiency phenotype due to CD19/CD81 deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Common variable immunodeficiency phenotype due to CD19/CD81 deficiency' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to CD19/CD81 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_696874 Label(s): NFKB1-related immune dysregulation + 'NFKB1-related immune dysregulation' SubClassOf 'disorder' + 'NFKB1-related immune dysregulation' SubClassOf 'disease' + 'NFKB1-related immune dysregulation' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' Class: http://www.orpha.net/ORDO/Orphanet_696870 Label(s): Common variable immunodeficiency phenotype due to germinal monogenic mutation + 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' SubClassOf 'group of disorders' + 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' SubClassOf 'Common variable immunodeficiency and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_696863 Label(s): Common variable immunodeficiency phenotype due to somatic mutations + 'Common variable immunodeficiency phenotype due to somatic mutations' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to somatic mutations' SubClassOf 'disorder' + 'Common variable immunodeficiency phenotype due to somatic mutations' SubClassOf 'part_of' some 'Common variable immunodeficiency and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_696857 Label(s): Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations + 'Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations' SubClassOf 'disorder' + 'Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations' SubClassOf 'disease' + 'Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations' SubClassOf 'part_of' some 'Common variable immunodeficiency and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_696851 Label(s): Common variable immunodeficiency and related disorders + 'Common variable immunodeficiency and related disorders' SubClassOf 'group of disorders' + 'Common variable immunodeficiency and related disorders' SubClassOf 'Immunodeficiency predominantly affecting antibody production' Class: http://www.orpha.net/ORDO/Orphanet_696830 Label(s): Female adnexal tumor of probable Wolffian origin + 'Female adnexal tumor of probable Wolffian origin' SubClassOf 'disease' + 'Female adnexal tumor of probable Wolffian origin' SubClassOf 'disorder' + 'Female adnexal tumor of probable Wolffian origin' SubClassOf 'part_of' some 'Rare uterine adnexal tumor' Class: http://www.orpha.net/ORDO/Orphanet_699683 Label(s): Fibro-adipose vascular anomaly + 'Fibro-adipose vascular anomaly' SubClassOf 'disorder' + 'Fibro-adipose vascular anomaly' SubClassOf 'disease' + 'Fibro-adipose vascular anomaly' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_699678 Label(s): Necrotizing cellulitis + 'Necrotizing cellulitis' SubClassOf 'subtype of a disorder' + 'Necrotizing cellulitis' SubClassOf 'part_of' some 'Necrotizing soft tissue infection' Class: http://www.orpha.net/ORDO/Orphanet_699645 Label(s): Variable age-onset epilepsy syndrome + 'Variable age-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' + 'Variable age-onset epilepsy syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_699618 Label(s): Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency' SubClassOf 'disease' + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency' SubClassOf 'disorder' + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_699615 Label(s): Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency' SubClassOf 'disorder' + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' + 'Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699605 Label(s): NEMO deleted exon 5 autoinflammatory syndrome + 'NEMO deleted exon 5 autoinflammatory syndrome' SubClassOf 'disorder' + 'NEMO deleted exon 5 autoinflammatory syndrome' SubClassOf 'part_of' some 'Type 1 interferonopathy of childhood' + 'NEMO deleted exon 5 autoinflammatory syndrome' SubClassOf 'disease' + 'NEMO deleted exon 5 autoinflammatory syndrome' SubClassOf 'part_of' some 'Type 1 interferonopathy' Class: http://www.orpha.net/ORDO/Orphanet_700516 Label(s): sorbitol dehydrogenase + 'sorbitol dehydrogenase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy' + 'sorbitol dehydrogenase' SubClassOf 'gene with protein product' + 'sorbitol dehydrogenase' SubClassOf 'has_chromosomal location' value "15q21.1" Class: http://www.orpha.net/ORDO/Orphanet_700508 Label(s): Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy + 'Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy' SubClassOf 'disease' + 'Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy' SubClassOf 'disorder' + 'Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy' SubClassOf 'part_of' some 'Autosomal recessive axonal hereditary motor and sensory neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_693992 Label(s): MSL complex subunit 2 + 'MSL complex subunit 2' SubClassOf 'has_chromosomal location' value "3q22.3" + 'MSL complex subunit 2' SubClassOf 'gene with protein product' + 'MSL complex subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_693990 Label(s): nuclear protein, coactivator of histone transcription + 'nuclear protein, coactivator of histone transcription' SubClassOf 'gene with protein product' + 'nuclear protein, coactivator of histone transcription' SubClassOf 'has_chromosomal location' value "11q22.3" + 'nuclear protein, coactivator of histone transcription' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_705975 Label(s): solute carrier family 39 member 5 + 'solute carrier family 39 member 5' SubClassOf 'has_chromosomal location' value "12q13.3" + 'solute carrier family 39 member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare isolated myopia' + 'solute carrier family 39 member 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_693912 Label(s): EPHB4-related capillary malformation-arteriovenous malformation + 'EPHB4-related capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'Capillary malformation-arteriovenous malformation' + 'EPHB4-related capillary malformation-arteriovenous malformation' SubClassOf 'malformation syndrome' + 'EPHB4-related capillary malformation-arteriovenous malformation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_693907 Label(s): RASA1-related capillary malformation-arteriovenous malformation + 'RASA1-related capillary malformation-arteriovenous malformation' SubClassOf 'malformation syndrome' + 'RASA1-related capillary malformation-arteriovenous malformation' SubClassOf 'disorder' + 'RASA1-related capillary malformation-arteriovenous malformation' SubClassOf 'part_of' some 'Capillary malformation-arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_699599 Label(s): ICHAD syndrome + 'ICHAD syndrome' SubClassOf 'disorder' + 'ICHAD syndrome' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'ICHAD syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699593 Label(s): Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency + 'Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' + 'Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_699590 Label(s): Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency + 'Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency' SubClassOf 'disorder' + 'Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699578 Label(s): Combined immunodeficiency with low Ig due to BCL10 deficiency + 'Combined immunodeficiency with low Ig due to BCL10 deficiency' SubClassOf 'disorder' + 'Combined immunodeficiency with low Ig due to BCL10 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency with low Ig due to BCL10 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_696086 Label(s): perilipin 4 + 'perilipin 4' SubClassOf 'gene with protein product' + 'perilipin 4' SubClassOf 'has_chromosomal location' value "19p13.3" + 'perilipin 4' SubClassOf 'disease-causing germline mutation(s) in' some 'PLIN4-related distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_700497 Label(s): Juvenile CLN10 disease + 'Juvenile CLN10 disease' SubClassOf 'subtype of a disorder' + 'Juvenile CLN10 disease' SubClassOf 'part_of' some 'CLN10 disease' Class: http://www.orpha.net/ORDO/Orphanet_691299 Label(s): protein only RNase P catalytic subunit + 'protein only RNase P catalytic subunit' SubClassOf 'has_chromosomal location' value "14q13.2" + 'protein only RNase P catalytic subunit' SubClassOf 'gene with protein product' + 'protein only RNase P catalytic subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Perrault syndrome type 2' + 'protein only RNase P catalytic subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Perrault syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_700487 Label(s): Congenital CLN10 disease + 'Congenital CLN10 disease' SubClassOf 'part_of' some 'CLN10 disease' + 'Congenital CLN10 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_700477 Label(s): Adult CLN6 disease + 'Adult CLN6 disease' SubClassOf 'part_of' some 'CLN6 disease' + 'Adult CLN6 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_700467 Label(s): Late infantile CLN6 disease + 'Late infantile CLN6 disease' SubClassOf 'subtype of a disorder' + 'Late infantile CLN6 disease' SubClassOf 'part_of' some 'CLN6 disease' Class: http://www.orpha.net/ORDO/Orphanet_696189 Label(s): Congenital generalized lipodystrophy type 1 + 'Congenital generalized lipodystrophy type 1' SubClassOf 'part_of' some 'Congenital generalized lipodystrophy' + 'Congenital generalized lipodystrophy type 1' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_693872 Label(s): Urinary tract arteriovenous malformation + 'Urinary tract arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Urinary tract arteriovenous malformation' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Urinary tract arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Urinary tract arteriovenous malformation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_693869 Label(s): Gallblader arteriovenous malformation + 'Gallblader arteriovenous malformation' SubClassOf 'part_of' some 'Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen' + 'Gallblader arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Gallblader arteriovenous malformation' SubClassOf 'disorder' + 'Gallblader arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_693863 Label(s): Splenic arteriovenous malformation + 'Splenic arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Splenic arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Splenic arteriovenous malformation' SubClassOf 'disorder' + 'Splenic arteriovenous malformation' SubClassOf 'part_of' some 'Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen' Class: http://www.orpha.net/ORDO/Orphanet_704253 Label(s): chromosome 10 open reading frame 71 + 'chromosome 10 open reading frame 71' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'chromosome 10 open reading frame 71' SubClassOf 'gene with protein product' + 'chromosome 10 open reading frame 71' SubClassOf 'has_chromosomal location' value "10q11.23" Class: http://www.orpha.net/ORDO/Orphanet_693855 Label(s): Visceral arteriovenous malformation + 'Visceral arteriovenous malformation' SubClassOf 'group of disorders' + 'Visceral arteriovenous malformation' SubClassOf 'Rare arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_693839 Label(s): Renal arteriovenous malformation + 'Renal arteriovenous malformation' SubClassOf 'disorder' + 'Renal arteriovenous malformation' SubClassOf 'malformation syndrome' + 'Renal arteriovenous malformation' SubClassOf 'part_of' some 'Rare cause of hypertension' + 'Renal arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Renal arteriovenous malformation' SubClassOf 'part_of' some 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_696187 Label(s): mannosidase alpha class 2B member 2 + 'mannosidase alpha class 2B member 2' SubClassOf 'has_chromosomal location' value "4p16.1" + 'mannosidase alpha class 2B member 2' SubClassOf 'gene with protein product' + 'mannosidase alpha class 2B member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'MAN2B2-CDG' Class: http://www.orpha.net/ORDO/Orphanet_700336 Label(s): Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency + 'Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency' SubClassOf 'part_of' some 'Hypotonia-speech impairment-severe cognitive delay syndrome' + 'Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_700325 Label(s): NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome + 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' SubClassOf 'disorder' + 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' SubClassOf 'malformation syndrome' + 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_696607 Label(s): SPARC like 1 + 'SPARC like 1' SubClassOf 'gene with protein product' + 'SPARC like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stromal corneal dystrophy' + 'SPARC like 1' SubClassOf 'has_chromosomal location' value "4q22.1" Class: http://www.orpha.net/ORDO/Orphanet_699021 Label(s): Spontaneous heparin-induced thrombocytopenia + 'Spontaneous heparin-induced thrombocytopenia' SubClassOf 'disease' + 'Spontaneous heparin-induced thrombocytopenia' SubClassOf 'disorder' + 'Spontaneous heparin-induced thrombocytopenia' SubClassOf 'part_of' some 'Platelet-activating anti-platelet factor 4 disorder' Class: http://www.orpha.net/ORDO/Orphanet_697091 Label(s): Emergomycosis + 'Emergomycosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Emergomycosis' SubClassOf 'disease' + 'Emergomycosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_697096 Label(s): Cryptosporidiosis + 'Cryptosporidiosis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Cryptosporidiosis' SubClassOf 'disease' + 'Cryptosporidiosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_699340 Label(s): Rho guanine nucleotide exchange factor 1 + 'Rho guanine nucleotide exchange factor 1' SubClassOf 'has_chromosomal location' value "19q13.2" + 'Rho guanine nucleotide exchange factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency' + 'Rho guanine nucleotide exchange factor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_700286 Label(s): Congenital high airway obstruction syndrome + 'Congenital high airway obstruction syndrome' SubClassOf 'disorder' + 'Congenital high airway obstruction syndrome' SubClassOf 'Clinical syndrome' + 'Congenital high airway obstruction syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation' + 'Congenital high airway obstruction syndrome' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_700205 Label(s): Combined immunodeficiency due to IKBKB gain-of-function mutation + 'Combined immunodeficiency due to IKBKB gain-of-function mutation' SubClassOf 'disease' + 'Combined immunodeficiency due to IKBKB gain-of-function mutation' SubClassOf 'disorder' + 'Combined immunodeficiency due to IKBKB gain-of-function mutation' SubClassOf 'part_of' some 'Combined immunodeficiency with low B cells' Class: http://www.orpha.net/ORDO/Orphanet_693681 Label(s): Activated PI3K-delta syndrome 2 + 'Activated PI3K-delta syndrome 2' SubClassOf 'disease' + 'Activated PI3K-delta syndrome 2' SubClassOf 'disorder' + 'Activated PI3K-delta syndrome 2' SubClassOf 'part_of' some 'Activated PI3K-delta syndrome' Class: http://www.orpha.net/ORDO/Orphanet_693826 Label(s): Pancreatic arteriovenous malformation + 'Pancreatic arteriovenous malformation' SubClassOf 'disorder' + 'Pancreatic arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Pancreatic arteriovenous malformation' SubClassOf 'part_of' some 'Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen' + 'Pancreatic arteriovenous malformation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_693661 Label(s): Activated PI3K-delta syndrome 1 + 'Activated PI3K-delta syndrome 1' SubClassOf 'part_of' some 'Activated PI3K-delta syndrome' + 'Activated PI3K-delta syndrome 1' SubClassOf 'disorder' + 'Activated PI3K-delta syndrome 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_693647 Label(s): Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome + 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' + 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' SubClassOf 'disorder' + 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' SubClassOf 'part_of' some 'Syndrome with congenital neutropenia as a major feature' + 'Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_693627 Label(s): Agammaglobulinemia-skin involvement-failure to thrive syndrome + 'Agammaglobulinemia-skin involvement-failure to thrive syndrome' SubClassOf 'disease' + 'Agammaglobulinemia-skin involvement-failure to thrive syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Agammaglobulinemia-skin involvement-failure to thrive syndrome' SubClassOf 'part_of' some 'Syndromic agammaglobulinemia' + 'Agammaglobulinemia-skin involvement-failure to thrive syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_705614 Label(s): TLE family member 6, subcortical maternal complex member + 'TLE family member 6, subcortical maternal complex member' SubClassOf 'has_chromosomal location' value "19p13.3" + 'TLE family member 6, subcortical maternal complex member' SubClassOf 'gene with protein product' + 'TLE family member 6, subcortical maternal complex member' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_693549 Label(s): Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'malformation syndrome' + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'disorder' + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_700188 Label(s): Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy + 'Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy' SubClassOf 'disorder' + 'Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy' SubClassOf 'disease' 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 'Alternating hemiplegia of childhood' + 'Rho related BTB domain containing 2' SubClassOf 'has_chromosomal location' value "8p21.3" + 'Rho related BTB domain containing 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_700163 Label(s): SMPX-related distal myopathy + 'SMPX-related distal myopathy' SubClassOf 'disorder' + 'SMPX-related distal myopathy' SubClassOf 'disease' + 'SMPX-related distal myopathy' SubClassOf 'part_of' some 'X-linked distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_700160 Label(s): ADNP-related blepharophimosis-intellectual disability syndrome + 'ADNP-related blepharophimosis-intellectual disability syndrome' SubClassOf 'disease' + 'ADNP-related blepharophimosis-intellectual disability syndrome' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' + 'ADNP-related blepharophimosis-intellectual disability syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_700133 Label(s): Idiopathic chronic pancreatitis + 'Idiopathic chronic pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' + 'Idiopathic chronic pancreatitis' SubClassOf 'disorder' + 'Idiopathic chronic pancreatitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699140 Label(s): lysyl oxidase like 3 + 'lysyl oxidase like 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' + 'lysyl oxidase like 3' SubClassOf 'has_chromosomal location' value "2p13.1" + 'lysyl oxidase like 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_699134 Label(s): bromodomain and PHD finger containing 1 + 'bromodomain and PHD finger containing 1' SubClassOf 'has_chromosomal location' value "3p25.3" + 'bromodomain and PHD finger containing 1' SubClassOf 'gene with protein product' + 'bromodomain and PHD finger containing 1' SubClassOf 'role in the phenotype of' some '3p25.3 microdeletion syndrome' + 'bromodomain and PHD finger containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_697394 Label(s): Combined immunodeficiency due to c-REL deficiency + 'Combined immunodeficiency due to c-REL deficiency' SubClassOf 'disorder' + 'Combined immunodeficiency due to c-REL deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to c-REL deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_698945 Label(s): Autoimmune heparin-induced thrombocytopenia + 'Autoimmune heparin-induced thrombocytopenia' SubClassOf 'disease' + 'Autoimmune heparin-induced thrombocytopenia' SubClassOf 'disorder' + 'Autoimmune heparin-induced thrombocytopenia' SubClassOf 'part_of' some 'Platelet-activating anti-platelet factor 4 disorder' Class: http://www.orpha.net/ORDO/Orphanet_698914 Label(s): Platelet-activating anti-platelet factor 4 disorder + 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'Systemic autoimmune disease' + 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_696289 Label(s): Congenital generalized lipodystrophy type 2 + 'Congenital generalized lipodystrophy type 2' SubClassOf 'subtype of a disorder' + 'Congenital generalized lipodystrophy type 2' SubClassOf 'part_of' some 'Congenital generalized lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_696206 Label(s): Congenital generalized lipodystrophy type 3 + 'Congenital generalized lipodystrophy type 3' SubClassOf 'part_of' some 'Congenital generalized lipodystrophy' + 'Congenital generalized lipodystrophy type 3' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_699068 Label(s): Fontan-associated liver disease + 'Fontan-associated liver disease' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' + 'Fontan-associated liver disease' SubClassOf 'disorder' + 'Fontan-associated liver disease' SubClassOf 'part_of' some 'Rare parenchymal liver disease' + 'Fontan-associated liver disease' SubClassOf 'disease' + 'Fontan-associated liver disease' SubClassOf 'part_of' some 'Rare vascular liver disease' Class: http://www.orpha.net/ORDO/Orphanet_699057 Label(s): Annular erythema of infancy + 'Annular erythema of infancy' SubClassOf 'disease' + 'Annular erythema of infancy' SubClassOf 'disorder' + 'Annular erythema of infancy' SubClassOf 'part_of' some 'Other dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_699029 Label(s): Vaccine-induced immune thrombotic thrombocytopenia + 'Vaccine-induced immune thrombotic thrombocytopenia' SubClassOf 'disease' + 'Vaccine-induced immune thrombotic thrombocytopenia' SubClassOf 'part_of' some 'Platelet-activating anti-platelet factor 4 disorder' + 'Vaccine-induced immune thrombotic thrombocytopenia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_706150 Label(s): folliculogenesis specific bHLH transcription factor + 'folliculogenesis specific bHLH transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' + 'folliculogenesis specific bHLH transcription factor' SubClassOf 'gene with protein product' + 'folliculogenesis specific bHLH transcription factor' SubClassOf 'has_chromosomal location' value "2p13.3" Class: http://www.orpha.net/ORDO/Orphanet_693802 Label(s): Neonatal-infantile onset epilepsy syndrome + 'Neonatal-infantile onset epilepsy syndrome' SubClassOf 'group of disorders' + 'Neonatal-infantile onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_693815 Label(s): Uterine arteriovenous malformation + 'Uterine arteriovenous malformation' SubClassOf 'disorder' + 'Uterine arteriovenous malformation' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' + 'Uterine arteriovenous malformation' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Uterine arteriovenous malformation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_691624 Label(s): cytidine/uridine monophosphate kinase 2 + 'cytidine/uridine monophosphate kinase 2' SubClassOf 'has_chromosomal location' value "2p25.2" + 'cytidine/uridine monophosphate kinase 2' SubClassOf 'gene with protein product' + 'cytidine/uridine monophosphate kinase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Bilateral striopallidodentate calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_696099 Label(s): spleen associated tyrosine kinase + 'spleen associated tyrosine kinase' SubClassOf 'gene with protein product' + 'spleen associated tyrosine kinase' SubClassOf 'has_chromosomal location' value "9q22.2" + 'spleen associated tyrosine kinase' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' Class: http://www.orpha.net/ORDO/Orphanet_696093 Label(s): inducible T cell costimulator ligand + 'inducible T cell costimulator ligand' SubClassOf 'disease-causing germline mutation(s) in' some 'Late-onset combined immunodeficiency due to ICOSL deficiency' + 'inducible T cell costimulator ligand' SubClassOf 'gene with protein product' + 'inducible T cell costimulator ligand' SubClassOf 'has_chromosomal location' value "21q22.3" Class: http://www.orpha.net/ORDO/Orphanet_696078 Label(s): Central Giant Cell Granuloma + 'Central Giant Cell Granuloma' SubClassOf 'disorder' + 'Central Giant Cell Granuloma' SubClassOf 'part_of' some 'Rare head and neck tumor' + 'Central Giant Cell Granuloma' SubClassOf 'part_of' some 'Rare bone tumor' + 'Central Giant Cell Granuloma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_699596 Label(s): Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency + 'Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'subtype of a disorder' + 'Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' 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 'Autoinflammatory syndrome with immune deficiency' + '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 'Mixed autoinflammatory and autoimmune syndrome' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'disorder' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_700107 Label(s): Sickle cell S-other specified hemoglobin variant + 'Sickle cell S-other specified hemoglobin variant' SubClassOf 'part_of' some 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' + 'Sickle cell S-other specified hemoglobin variant' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_700136 Label(s): Early-onset idiopathic chronic pancreatitis + 'Early-onset idiopathic chronic pancreatitis' SubClassOf 'part_of' some 'Idiopathic chronic pancreatitis' + 'Early-onset idiopathic chronic pancreatitis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_696063 Label(s): PLIN4-related distal myopathy + 'PLIN4-related distal myopathy' SubClassOf 'disease' + 'PLIN4-related distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'PLIN4-related distal myopathy' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_695783 Label(s): EDEM3-CDG + 'EDEM3-CDG' SubClassOf 'disorder' + 'EDEM3-CDG' SubClassOf 'part_of' some 'Disorder of protein N-glycosylation' + 'EDEM3-CDG' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'EDEM3-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_697067 Label(s): Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome + 'Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome' SubClassOf 'malformation syndrome' + 'Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome' SubClassOf 'disorder' + 'Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_700085 Label(s): Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant + 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' SubClassOf 'disorder' + 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' SubClassOf 'disease' + 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' SubClassOf 'part_of' some 'Sickle cell disease' Class: http://www.orpha.net/ORDO/Orphanet_696925 Label(s): Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency + 'Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency' SubClassOf 'disorder' + 'Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' + 'Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_700090 Label(s): Sickle cell S-O Arab disease + 'Sickle cell S-O Arab disease' SubClassOf 'subtype of a disorder' + 'Sickle cell S-O Arab disease' SubClassOf 'part_of' some 'Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant' Class: http://www.orpha.net/ORDO/Orphanet_692812 Label(s): RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'disorder' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'disease' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for lung transplant' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' + 'RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' 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 'disease' + 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_698485 Label(s): ATP binding cassette subfamily D member 3 + 'ATP binding cassette subfamily D member 3' SubClassOf 'has_chromosomal location' value "1p21.3" + 'ATP binding cassette subfamily D member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Oculopharyngodistal myopathy' + 'ATP binding cassette subfamily D member 3' SubClassOf 'gene with protein product' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_649920 Label(s): NUAK family kinase 2 + 'NUAK family kinase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated anencephaly' + 'NUAK family kinase 2' SubClassOf 'has_chromosomal location' value "1q32.1" + 'NUAK family kinase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_432047 Label(s): valyl-tRNA synthetase 1 + 'valyl-tRNA synthetase 1' SubClassOf 'has_chromosomal location' value "6p21.33" + 'valyl-tRNA synthetase 1' SubClassOf 'gene with protein product' + 'valyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined oxidative phosphorylation defect type 20' Class: http://www.orpha.net/ORDO/Orphanet_235193 Label(s): membrane spanning 4-domains A1 + 'membrane spanning 4-domains A1' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' + 'membrane spanning 4-domains A1' SubClassOf 'gene with protein product' + 'membrane spanning 4-domains A1' SubClassOf 'has_chromosomal location' value "11q12.2" Class: http://www.orpha.net/ORDO/Orphanet_602220 Label(s): serpin family A member 12 + 'serpin family A member 12' SubClassOf 'has_chromosomal location' value "14q32.13" + 'serpin family A member 12' SubClassOf 'gene with protein product' + 'serpin family A member 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' Class: http://www.orpha.net/ORDO/Orphanet_631338 Label(s): TBC1 domain family member 2B + 'TBC1 domain family member 2B' SubClassOf 'gene with protein product' + 'TBC1 domain family member 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' + 'TBC1 domain family member 2B' SubClassOf 'has_chromosomal location' value "15q24.3-q25.1"