Ontology Diff Summary Diff date: 2020/12/17 13:43:56 First ontology URI: ORDO_en_3.0.owl Second ontology URI: ORDO_en_3.1.owl Number of classes changed: 271 Number of classes added: 69 Number of classes deleted: 7 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_30391 Label(s): Isolated biliary atresia + 'Isolated biliary atresia' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_300501 Label(s): Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'disease' + 'Painful orbital and systemic neurofibromas-marfanoid habitus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_250977 Label(s): AICA-ribosiduria - 'AICA-ribosiduria' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 1.0f) + 'AICA-ribosiduria' SubClassOf 'has_age_of_onset' some 'antenatal' + 'AICA-ribosiduria' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 4.0f) Class: http://www.orpha.net/ORDO/Orphanet_320375 Label(s): Autosomal recessive spastic paraplegia type 55 - 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label(s): Glycerol kinase deficiency, infantile form - 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' - 'Glycerol kinase deficiency, infantile form' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_361157 Label(s): sodium voltage-gated channel beta subunit 2 - 'sodium voltage-gated channel beta subunit 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'sodium voltage-gated channel beta subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2233 Label(s): Hypogonadism-mitral valve prolapse-intellectual disability syndrome + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_445018 Label(s): Combined immunodeficiency due to LRBA deficiency - 'Combined immunodeficiency due to LRBA deficiency' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_464288 Label(s): Short stature-brachydactyly-obesity-global developmental delay syndrome + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_499096 Label(s): Isolated optic neuritis + 'Isolated optic neuritis' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_122773 Label(s): potassium voltage-gated channel subfamily E regulatory subunit 3 - 'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120888 Label(s): cathepsin A + 'cathepsin A' SubClassOf 'disease-causing germline mutation(s) in' some 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_2962 Label(s): De Barsy syndrome + 'De Barsy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'De Barsy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_169095 Label(s): Severe combined immunodeficiency due to FOXN1 deficiency + 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_209301 Label(s): transient receptor potential cation channel subfamily M member 4 - 'transient receptor potential cation channel subfamily M member 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'transient receptor potential cation channel subfamily M member 4' SubClassOf 'major susceptibility factor in' some 'Brugada syndrome' + 'transient receptor potential cation channel subfamily M member 4' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_422270 Label(s): calmodulin 2 - 'calmodulin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_117673 Label(s): ATP binding cassette subfamily C member 9 - 'ATP binding cassette subfamily C member 9' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome' + 'ATP binding cassette subfamily C member 9' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119371 Label(s): complement factor I + 'complement factor I' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_244275 Class: http://www.orpha.net/ORDO/Orphanet_363534 Label(s): Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'part_of' some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_2038 Label(s): Pulmonary arteriovenous malformation + 'Pulmonary arteriovenous malformation' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_389 Label(s): Langerhans cell histiocytosis + 'Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_252175 Label(s): Vestibular schwannoma - 'Vestibular schwannoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Denmark') and ('has_annual_incidence_average_value' value 2.0f) - 'Vestibular schwannoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') - 'Vestibular schwannoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Specific population') and ('has_annual_incidence_average_value' value 0.8f) - 'Vestibular schwannoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.2f) + 'Vestibular schwannoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_456312 Label(s): Infantile multisystem neurologic-endocrine-pancreatic disease + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Infantile multisystem neurologic-endocrine-pancreatic disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_300208 Label(s): calcium voltage-gated channel auxiliary subunit alpha2delta 1 - 'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_271861 Label(s): Hereditary ATTR amyloidosis + 'Hereditary ATTR amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_169399 Label(s): NADH:ubiquinone oxidoreductase complex assembly factor 6 + 'NADH:ubiquinone oxidoreductase complex assembly factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary Fanconi renotubular syndrome' Class: http://www.orpha.net/ORDO/Orphanet_179408 Label(s): netrin G1 + 'netrin G1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1973 Label(s): Faciocardiorenal syndrome + 'Faciocardiorenal syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Faciocardiorenal syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_297206 Label(s): potassium voltage-gated channel subfamily J member 8 - 'potassium voltage-gated channel subfamily J member 8' SubClassOf 'major susceptibility factor in' some 'Brugada syndrome' + 'potassium voltage-gated channel subfamily J member 8' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' 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 'part_of' some 'Rare syndromic intellectual disability' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Progressive epilepsy-intellectual disability syndrome, Finnish type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93950 Label(s): X-linked intellectual disability, Sutherland-Haan type - 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'part_of' some 'Syndromic anorectal malformation' Class: http://www.orpha.net/ORDO/Orphanet_1229 Label(s): Congenital intrauterine infection-like syndrome - 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital intrauterine infection-like syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_160008 Label(s): A-kinase anchoring protein 9 - 'A-kinase anchoring protein 9' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'A-kinase anchoring protein 9' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404448 Label(s): ADNP syndrome - 'ADNP syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 10.0f) - 'ADNP syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '<1 / 1 000 000') + 'ADNP syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 100 000') Class: http://www.orpha.net/ORDO/Orphanet_324416 Label(s): Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome + 'Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_325604 Label(s): minichromosome maintenance complex component 6 - 'minichromosome maintenance complex component 6' SubClassOf 'gene with protein product' - 'minichromosome maintenance complex component 6' SubClassOf 'has_chromosomal location' value "2q21.3"^^http://www.w3.org/2001/XMLSchema#string - 'minichromosome maintenance complex component 6' SubClassOf 'candidate gene tested in' some 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' Class: http://www.orpha.net/ORDO/Orphanet_456298 Label(s): 1p35.2 microdeletion syndrome + '1p35.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + '1p35.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_96169 Label(s): Koolen-De Vries syndrome + 'Koolen-De Vries syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Koolen-De Vries syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_121150 Label(s): DNA methyltransferase 3 beta + 'DNA methyltransferase 3 beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_182040 Label(s): Aplastic anemia - 'Aplastic anemia' SubClassOf 'Rare constitutional anemia' Class: http://www.orpha.net/ORDO/Orphanet_583612 Label(s): Neu-laxova due to 3-phosphoserine phosphatase deficiency - 'Neu-laxova due to 3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Neu-laxova due to 3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologic signs' - 'Neu-laxova due to 3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Neu-laxova due to 3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neu-laxova due to 3-phosphoserine phosphatase deficiency' SubClassOf 'part_of' some 'Microblepharon-ablephara syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391641 Label(s): Feingold syndrome type 1 - 'Feingold syndrome type 1' SubClassOf 'has_age_of_onset' some 'infancy' + 'Feingold syndrome type 1' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_583607 Label(s): Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologic signs' - 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Microblepharon-ablephara syndrome' - 'Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_98305 Label(s): Genetic lipodystrophy + 'Genetic lipodystrophy' SubClassOf 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_583602 Label(s): Neu-laxova syndrome due to phosphoserine aminotransferase deficiency - 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Lissencephaly type 3' - 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with fatal disease course' - 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Microblepharon-ablephara syndrome' - 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neu-laxova syndrome due to phosphoserine aminotransferase deficiency' SubClassOf 'part_of' some 'Autosomal ichthyosis syndrome with prominent neurologic signs' Class: http://www.orpha.net/ORDO/Orphanet_79242 Label(s): Holocarboxylase synthetase deficiency + 'Holocarboxylase synthetase deficiency' SubClassOf 'has_age_of_onset' some 'childhood' Class: http://www.orpha.net/ORDO/Orphanet_457490 Label(s): Dmx like 2 + 'Dmx like 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_470676 Label(s): RAN guanine nucleotide release factor - 'RAN guanine nucleotide release factor' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'RAN guanine nucleotide release factor' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210548 Label(s): Macrocephaly-intellectual disability-autism syndrome + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Macrocephaly-intellectual disability-autism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1816 Label(s): Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome + 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1812 Label(s): Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome + 'Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1809 Label(s): Hidrotic ectodermal dysplasia, Halal type + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_488197 Label(s): Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' - 'Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'part_of' some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_363965 Label(s): Koolen-De Vries syndrome due to a point mutation + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_363958 Label(s): 17q21.31 microdeletion syndrome + '17q21.31 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_508523 Label(s): Hyperphenylalaninemia due to DNAJC12 deficiency - 'Hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_122381 Label(s): hyperpolarization activated cyclic nucleotide gated potassium channel 4 - 'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120164 Label(s): TNF receptor superfamily member 11b + 'TNF receptor superfamily member 11b' SubClassOf 'candidate gene tested in' some 'Familial calcium pyrophosphate deposition' Class: http://www.orpha.net/ORDO/Orphanet_120160 Label(s): TNF receptor superfamily member 11a + 'TNF receptor superfamily member 11a' SubClassOf 'disease-causing germline mutation(s) in' some 'Dysosteosclerosis' Class: http://www.orpha.net/ORDO/Orphanet_443909 Label(s): Hereditary nonpolyposis colon cancer + 'Hereditary nonpolyposis colon cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_589746 Class: http://www.orpha.net/ORDO/Orphanet_408692 Label(s): sarcolemma associated protein - 'sarcolemma associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sarcolemma associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293848 Label(s): Frontotemporal dementia, right temporal atrophy variant - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 200.0f) - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf 'disease' - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf 'part_of' some 'Frontotemporal dementia' - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf 'has_inheritance' some 'unknown inheritance' - 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf 'has_age_of_onset' some 'adult' + 'Frontotemporal dementia, right temporal atrophy variant' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_314647 Label(s): Non-progressive cerebellar ataxia with intellectual disability + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_168624 Label(s): Familial scaphocephaly syndrome, McGillivray type + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_458247 Label(s): PLAG1 zinc finger + 'PLAG1 zinc finger' SubClassOf 'disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to a point mutation' Class: http://www.orpha.net/ORDO/Orphanet_68380 Label(s): Mitochondrial disease - 'Mitochondrial disease' SubClassOf 'Developmental anomaly of metabolic origin' Class: http://www.orpha.net/ORDO/Orphanet_93607 Label(s): Autosomal recessive proximal renal tubular acidosis + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_276183 Label(s): Spinocerebellar ataxia type 32 + 'Spinocerebellar ataxia type 32' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Spinocerebellar ataxia type 32' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_391646 Label(s): Feingold syndrome type 2 - 'Feingold syndrome type 2' SubClassOf 'has_age_of_onset' some 'infancy' + 'Feingold syndrome type 2' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_99 Label(s): Autosomal dominant cerebellar ataxia - 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_81 Label(s): Antisynthetase syndrome + 'Antisynthetase syndrome' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to adulthood associated with a systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_91491 Label(s): Congenital ectropion uveae - 'Congenital ectropion uveae' SubClassOf 'part_of' some 'Congenital malformation of the eye with glaucoma as a major feature' - 'Congenital ectropion uveae' SubClassOf 'part_of' some 'Genetic congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_3085 Label(s): Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_33 Label(s): Isovaleric acidemia + 'Isovaleric acidemia' SubClassOf 'has_age_of_onset' some 'adult' + 'Isovaleric acidemia' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Isovaleric acidemia' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_455925 Label(s): RAP1B, member of RAS oncogene family - 'RAP1B, member of RAS oncogene family' SubClassOf 'has_chromosomal location' value "12q15"^^http://www.w3.org/2001/XMLSchema#string - 'RAP1B, member of RAS oncogene family' SubClassOf 'disease-causing germline mutation(s) in' some 'Kabuki syndrome' - 'RAP1B, member of RAS oncogene family' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_3243 Label(s): Sweet syndrome - 'Sweet syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' - 'Sweet syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 100.0f) + 'Sweet syndrome' SubClassOf 'has_inheritance' some 'multigenic/multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_792 Label(s): X-linked retinoschisis + 'X-linked retinoschisis' SubClassOf 'has_age_of_onset' some 'adolescent' + 'X-linked retinoschisis' SubClassOf 'has_age_of_onset' some 'infancy' + 'X-linked retinoschisis' SubClassOf 'has_age_of_onset' some 'adult' Class: http://www.orpha.net/ORDO/Orphanet_306486 Label(s): Congenital sucrase-isomaltase deficiency without sucrose intolerance - 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' - 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_306474 Label(s): Congenital sucrase-isomaltase deficiency with starch and lactose intolerance - 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'clinical subtype' - 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_33108 Label(s): Lethal multiple pterygium syndrome - 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome' + 'Lethal multiple pterygium syndrome' SubClassOf 'part_of' some 'Lethal multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306462 Label(s): Congenital sucrase-isomaltase deficiency without starch intolerance - 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' - 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_33111 Label(s): Granulomatous slack skin - 'Granulomatous slack skin' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_306446 Label(s): Congenital sucrase-isomaltase deficiency with minimal starch tolerance - 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' - 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_306436 Label(s): Congenital sucrase-isomaltase deficiency with starch intolerance - 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'clinical subtype' - 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'part_of' some 'Congenital sucrase-isomaltase deficiency' + 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_158588 Label(s): HNF1 homeobox B + 'HNF1 homeobox B' SubClassOf 'disease-causing germline mutation(s) in' some 'Renal dysplasia, unilateral' + 'HNF1 homeobox B' SubClassOf 'disease-causing germline mutation(s) in' some 'Renal dysplasia, bilateral' Class: http://www.orpha.net/ORDO/Orphanet_238583 Label(s): Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - 'Hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_363741 Label(s): Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363727 Label(s): X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - 'X-linked dyserythropoietic anemia with abnormal platelets and neutropenia' SubClassOf 'part_of' some 'Isolated constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_238517 Label(s): Hypotonia-cystinuria type 1 syndrome - 'Hypotonia-cystinuria type 1 syndrome' SubClassOf 'Mitochondrial disease' Class: http://www.orpha.net/ORDO/Orphanet_122149 Label(s): glycerol kinase - 'glycerol kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Glycerol kinase deficiency, infantile form' Class: http://www.orpha.net/ORDO/Orphanet_363705 Label(s): Craniofaciofrontodigital syndrome + 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Craniofaciofrontodigital syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' + 'Craniofaciofrontodigital syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_248487 Label(s): high mobility group AT-hook 2 + 'high mobility group AT-hook 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Silver-Russell syndrome due to a point mutation' Class: http://www.orpha.net/ORDO/Orphanet_332111 Label(s): SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_1652 Label(s): Dent disease - 'Dent disease' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Dent disease' SubClassOf 'part_of' some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_575553 Label(s): Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'part_of' some 'Rare dementia' - 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'part_of' some 'Genetic dementia' + 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cathepsin A-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'has_age_of_onset' some 'adult' Class: http://www.orpha.net/ORDO/Orphanet_218675 Label(s): sodium voltage-gated channel beta subunit 3 - 'sodium voltage-gated channel beta subunit 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium voltage-gated channel beta subunit 3' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218672 Label(s): glycerol-3-phosphate dehydrogenase 1 like - 'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1675 Label(s): Dihydropyrimidine dehydrogenase deficiency - 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'part_of' some 'Osteochondrosis' Class: http://www.orpha.net/ORDO/Orphanet_893 Label(s): WAGR syndrome + 'WAGR syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'WAGR syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'WAGR syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_75858 Label(s): MORM syndrome + 'MORM syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'MORM syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_281472 Label(s): AKT serine/threonine kinase 1 + 'AKT serine/threonine kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_363686 Label(s): Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome + 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363680 Label(s): 2p13.2 microdeletion syndrome + '2p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_77243 Label(s): Lipedema - 'Lipedema' SubClassOf 'disease' - 'Lipedema' SubClassOf 'has_age_of_onset' some 'adolescent' - 'Lipedema' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' - 'Lipedema' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.39f) - 'Lipedema' SubClassOf 'part_of' some 'Subcutaneous tissue disease' - 'Lipedema' SubClassOf 'has_age_of_onset' some 'adult' - 'Lipedema' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') Class: http://www.orpha.net/ORDO/Orphanet_448950 Label(s): RAP1A, member of RAS oncogene family - 'RAP1A, member of RAS oncogene family' SubClassOf 'has_chromosomal location' value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string - 'RAP1A, member of RAS oncogene family' SubClassOf 'gene with protein product' - 'RAP1A, member of RAS oncogene family' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Kabuki syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86884 Label(s): Subcutaneous panniculitis-like T-cell lymphoma - 'Subcutaneous panniculitis-like T-cell lymphoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_93321 Label(s): Radial hemimelia + 'Radial hemimelia' SubClassOf 'has_age_of_onset' some 'antenatal' + 'Radial hemimelia' SubClassOf 'has_inheritance' some 'X-linked recessive' + 'Radial hemimelia' SubClassOf 'has_inheritance' some 'multigenic/multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_118716 Label(s): sucrase-isomaltase - 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' - 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' - 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency without starch intolerance' - 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch intolerance' - 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' + 'sucrase-isomaltase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital sucrase-isomaltase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1488 Label(s): Cooper-Jabs syndrome + 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Cooper-Jabs syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1478 Label(s): Interatrial communication + 'Interatrial communication' SubClassOf 'has_age_of_onset' some 'adult' + 'Interatrial communication' SubClassOf 'has_age_of_onset' some 'elderly' + 'Interatrial communication' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_79241 Label(s): Biotinidase deficiency + 'Biotinidase deficiency' SubClassOf 'has_age_of_onset' some 'adult' + 'Biotinidase deficiency' SubClassOf 'has_age_of_onset' some 'childhood' + 'Biotinidase deficiency' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_2249 Label(s): Ulna hypoplasia-intellectual disability syndrome + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ulna hypoplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_294689 Label(s): semaphorin 3A + 'semaphorin 3A' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83472 Label(s): CAMOS syndrome + 'CAMOS syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'CAMOS syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_229787 Label(s): polynucleotide kinase 3'-phosphatase + 'polynucleotide kinase 3'-phosphatase' SubClassOf 'disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2B2' Class: http://www.orpha.net/ORDO/Orphanet_1399 Label(s): Richards-Rundle syndrome + 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Richards-Rundle syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1305 Label(s): Feingold syndrome + 'Feingold syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Feingold syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Feingold syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_881 Label(s): Turner syndrome - 'Turner syndrome' SubClassOf 'part_of' some 'Rare endocrine growth disease' Class: http://www.orpha.net/ORDO/Orphanet_93323 Label(s): Fibular hemimelia - 'Fibular hemimelia' SubClassOf 'has_age_of_onset' some 'neonatal' Class: http://www.orpha.net/ORDO/Orphanet_1766 Label(s): Dysequilibrium syndrome + 'Dysequilibrium syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Dysequilibrium syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_138451 Label(s): telomerase reverse transcriptase + 'telomerase reverse transcriptase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_254793 Label(s): Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'group of disorders' - 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' + 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_99900 Label(s): Long chain acyl-CoA dehydrogenase deficiency - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Metabolic disease due to other fatty acid oxidation disorder' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_821 Label(s): Sotos syndrome - 'Sotos syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' + 'Sotos syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_228384 Label(s): 5q14.3 microdeletion syndrome + '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + '5q14.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_325976 Label(s): sodium voltage-gated channel alpha subunit 10 - 'sodium voltage-gated channel alpha subunit 10' SubClassOf 'major susceptibility factor in' some 'Brugada syndrome' + 'sodium voltage-gated channel alpha subunit 10' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118532 Label(s): sodium channel epithelial 1 alpha subunit + 'sodium channel epithelial 1 alpha subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1296 Label(s): Lambert syndrome + 'Lambert syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' + 'Lambert syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Lambert syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_118513 Label(s): sodium voltage-gated channel alpha subunit 5 - 'sodium voltage-gated channel alpha subunit 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium voltage-gated channel alpha subunit 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1236 Label(s): Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome + 'Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99877 Label(s): Familial parathyroid adenoma - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Rare parathyroid tumor' - 'Familial parathyroid adenoma' SubClassOf 'part_of' some 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_99860 Label(s): Precursor B-cell acute lymphoblastic leukemia - 'Precursor B-cell acute lymphoblastic leukemia' SubClassOf 'part_of' some 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_774 Label(s): Hereditary hemorrhagic telangiectasia + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Respiratory malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Genetic respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_765 Label(s): Pyruvate dehydrogenase deficiency - 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Mitochondrial disease' Class: http://www.orpha.net/ORDO/Orphanet_1964 Label(s): Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_261337 Label(s): Distal 22q11.2 microduplication syndrome + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'infancy' + 'Distal 22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'childhood' Class: http://www.orpha.net/ORDO/Orphanet_261330 Label(s): Distal 22q11.2 microdeletion syndrome + 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_727 Label(s): Microscopic polyangiitis + 'Microscopic polyangiitis' SubClassOf 'has_age_of_onset' some 'childhood' Class: http://www.orpha.net/ORDO/Orphanet_289390 Label(s): Primary Sjögren syndrome + 'Primary Sjögren syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_313795 Label(s): Jawad syndrome + 'Jawad syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Jawad syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_231556 Label(s): Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome + 'Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1240 Label(s): Metaphyseal acroscyphodysplasia + 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Metaphyseal acroscyphodysplasia' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1246 Label(s): Brachydactyly-nystagmus-cerebellar ataxia syndrome + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' + 'Brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_329332 Label(s): Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome + 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_435628 Label(s): Keppen-Lubinsky syndrome + 'Keppen-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Keppen-Lubinsky syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_461367 Label(s): smoothened, frizzled class receptor + 'smoothened, frizzled class receptor' SubClassOf 'disease-causing somatic mutation(s) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_506307 Label(s): Stromme syndrome + 'Stromme syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Stromme syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_1188 Label(s): Ataxia-deafness-intellectual disability syndrome + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1184 Label(s): Ataxia-photosensitivity-short stature syndrome + 'Ataxia-photosensitivity-short stature syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Ataxia-photosensitivity-short stature syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_85438 Label(s): Enthesitis-related juvenile idiopathic arthritis + 'Enthesitis-related juvenile idiopathic arthritis' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_85436 Label(s): Psoriasis-related juvenile idiopathic arthritis + 'Psoriasis-related juvenile idiopathic arthritis' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_1172 Label(s): Autosomal recessive cerebellar ataxia - 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_3363 Label(s): Trichomegaly-retina pigmentary degeneration-dwarfism syndrome + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99408 Label(s): Pituitary adenoma - 'Pituitary adenoma' SubClassOf 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_93172 Label(s): Renal dysplasia, unilateral + 'Renal dysplasia, unilateral' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_1130 Label(s): Arachnodactyly-intellectual disability-dysmorphism syndrome + 'Arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_681 Label(s): Hypokalemic periodic paralysis + 'Hypokalemic periodic paralysis' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_93110 Label(s): Posterior urethral valve - 'Posterior urethral valve' SubClassOf 'has_age_of_onset' some 'antenatal' - 'Posterior urethral valve' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Posterior urethral valve' SubClassOf 'has_age_of_onset' some 'all ages' Class: http://www.orpha.net/ORDO/Orphanet_652 Label(s): Multiple endocrine neoplasia type 1 - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Genetic hyperparathyroidism' - 'Multiple endocrine neoplasia type 1' SubClassOf 'part_of' some 'Rare parathyroid tumor' Class: http://www.orpha.net/ORDO/Orphanet_90647 Label(s): Jervell and Lange-Nielsen syndrome - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_age_of_onset' some 'infancy' - 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_age_of_onset' some 'childhood' + 'Jervell and Lange-Nielsen syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' Class: http://www.orpha.net/ORDO/Orphanet_606 Label(s): Proximal myotonic myopathy + 'Proximal myotonic myopathy' SubClassOf 'has_age_of_onset' some 'adolescent' + 'Proximal myotonic myopathy' SubClassOf 'has_age_of_onset' some 'elderly' Class: http://www.orpha.net/ORDO/Orphanet_431140 Label(s): X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome + 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_213517 Label(s): Familial ovarian cancer + 'Familial ovarian cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_589746 Class: http://www.orpha.net/ORDO/Orphanet_75234 Label(s): Cholesteryl ester storage disease + 'Cholesteryl ester storage disease' SubClassOf 'has_age_of_onset' some 'adolescent' + 'Cholesteryl ester storage disease' SubClassOf 'has_age_of_onset' some 'adult' Class: http://www.orpha.net/ORDO/Orphanet_370933 Label(s): GM3 synthase deficiency - 'GM3 synthase deficiency' SubClassOf 'group of disorders' - 'GM3 synthase deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' - 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' - 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with skin involvement' - 'GM3 synthase deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' - 'GM3 synthase deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'GM3 synthase deficiency' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' + 'GM3 synthase deficiency' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with epilepsy as a major feature' + 'GM3 synthase deficiency' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' + 'GM3 synthase deficiency' SubClassOf 'disease' + 'GM3 synthase deficiency' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'GM3 synthase deficiency' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_370927 Label(s): SSR4-CDG + 'SSR4-CDG' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1014 Label(s): Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_582 Label(s): Mucopolysaccharidosis type 4 + 'Mucopolysaccharidosis type 4' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_3293 Label(s): Telecanthus-hypertelorism-strabismus-pes cavus syndrome + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_567 Label(s): 22q11.2 deletion syndrome - '22q11.2 deletion syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' - '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance' - '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'not genetically inherited' + '22q11.2 deletion syndrome' SubClassOf 'has_age_of_onset' some 'all ages' Class: http://www.orpha.net/ORDO/Orphanet_566 Label(s): Congenital microcoria - 'Congenital microcoria' SubClassOf 'part_of' some 'Congenital malformation of the eye with glaucoma as a major feature' - 'Congenital microcoria' SubClassOf 'part_of' some 'Genetic congenital malformation of the eye with glaucoma as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_103908 Label(s): Congenital sodium diarrhea + 'Congenital sodium diarrhea' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_353284 Label(s): Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_59305 Label(s): Gestational trophoblastic neoplasm - 'Gestational trophoblastic neoplasm' SubClassOf 'Rare genetic gynecological and obstetrical diseases' Class: http://www.orpha.net/ORDO/Orphanet_353281 Label(s): Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_423306 Label(s): Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_247854 Label(s): Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies - 'Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' - 'Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'part_of' some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_118023 Label(s): prion protein + 'prion protein' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_586130 Class: http://www.orpha.net/ORDO/Orphanet_247846 Label(s): Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies - 'Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' - 'Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'part_of' some 'Oligoarticular juvenile idiopathic arthritis' + 'Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_443173 Label(s): Postpartum psychosis + 'Postpartum psychosis' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' Class: http://www.orpha.net/ORDO/Orphanet_247839 Label(s): Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies - 'Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'part_of' some 'Oligoarticular juvenile idiopathic arthritis' - 'Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_574957 Label(s): Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_3188 Label(s): Congenital pulmonary veins atresia or stenosis + 'Congenital pulmonary veins atresia or stenosis' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_2278 Label(s): Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_73272 Label(s): Growth delay due to insulin-like growth factor type 1 deficiency + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_574918 Label(s): Predisposition to severe viral infection due to IRF7 deficiency + 'Predisposition to severe viral infection due to IRF7 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_90970 Label(s): Primary lipodystrophy - 'Primary lipodystrophy' SubClassOf 'Genetic subcutaneous tissue disorder' Class: http://www.orpha.net/ORDO/Orphanet_475 Label(s): Joubert syndrome - 'Joubert syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' Class: http://www.orpha.net/ORDO/Orphanet_429 Label(s): Hypochondroplasia + 'Hypochondroplasia' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Hypochondroplasia' SubClassOf 'has_age_of_onset' some 'adolescent' + 'Hypochondroplasia' SubClassOf 'has_age_of_onset' some 'adult' + 'Hypochondroplasia' SubClassOf 'has_age_of_onset' some 'infancy' + 'Hypochondroplasia' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_93685 Label(s): Unicentric Castleman disease - 'Unicentric Castleman disease' SubClassOf 'part_of' some 'Lymphoid hemopathy' Class: http://www.orpha.net/ORDO/Orphanet_247861 Label(s): Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies - 'Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'part_of' some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' - 'Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_75249 Label(s): Familial isolated restrictive cardiomyopathy - 'Familial isolated restrictive cardiomyopathy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.5f) + 'Familial isolated restrictive cardiomyopathy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') Class: http://www.orpha.net/ORDO/Orphanet_75233 Label(s): Wolman disease - 'Wolman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 1 000 000') - 'Wolman disease' SubClassOf ('present_in' some 'Germany') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.28f) + 'Wolman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') Class: http://www.orpha.net/ORDO/Orphanet_171714 Label(s): Amish infantile epilepsy syndrome - 'Amish infantile epilepsy syndrome' SubClassOf 'part_of' some 'GM3 synthase deficiency' - 'Amish infantile epilepsy syndrome' SubClassOf 'disease' - 'Amish infantile epilepsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Amish infantile epilepsy syndrome' SubClassOf 'has_age_of_onset' some 'infancy' + 'Amish infantile epilepsy syndrome' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_2670 Label(s): Pierson syndrome + 'Pierson syndrome' SubClassOf 'has_age_of_onset' some 'childhood' Class: http://www.orpha.net/ORDO/Orphanet_375 Label(s): Anti-glomerular basement membrane disease + 'Anti-glomerular basement membrane disease' SubClassOf 'has_age_of_onset' some 'elderly' Class: http://www.orpha.net/ORDO/Orphanet_65283 Label(s): Timothy syndrome + 'Timothy syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' + 'Timothy syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Timothy syndrome' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_648 Label(s): Noonan syndrome - 'Noonan syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') + 'Noonan syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-5 / 10 000') Class: http://www.orpha.net/ORDO/Orphanet_370938 Label(s): Salt-and-pepper syndrome - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'GM3 synthase deficiency' - 'Salt-and-pepper syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '<1 / 1 000 000') - 'Salt-and-pepper syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' - 'Salt-and-pepper syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 3.0f) - 'Salt-and-pepper syndrome' SubClassOf 'has_age_of_onset' some 'infancy' - 'Salt-and-pepper syndrome' SubClassOf 'part_of' some 'Pigmentation anomaly of the skin' - 'Salt-and-pepper syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Salt-and-pepper syndrome' SubClassOf 'disease' + 'Salt-and-pepper syndrome' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_2427 Label(s): Macrocephaly-short stature-paraplegia syndrome + 'Macrocephaly-short stature-paraplegia syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Macrocephaly-short stature-paraplegia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_50811 Label(s): Lipodystrophy-intellectual disability-deafness syndrome + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2435 Label(s): Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome + 'Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_289543 Label(s): BRCA1 associated protein 1 + 'BRCA1 associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Meningioma' + 'BRCA1 associated protein 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_580933 Label(s): Lethal brain and heart developmental defects + 'Lethal brain and heart developmental defects' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_289522 Label(s): Microtriplication 11q24.1 + 'Microtriplication 11q24.1' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Microtriplication 11q24.1' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93108 Label(s): Renal dysplasia + 'Renal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_286 Label(s): Vascular Ehlers-Danlos syndrome - 'Vascular Ehlers-Danlos syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f) + 'Vascular Ehlers-Danlos syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') Class: http://www.orpha.net/ORDO/Orphanet_273 Label(s): Steinert myotonic dystrophy - 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare disorder with hypergonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_255 Label(s): Dopa-responsive dystonia - 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_232 Label(s): Sickle cell anemia - 'Sickle cell anemia' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_85451 Label(s): ATTRV122I amyloidosis - 'ATTRV122I amyloidosis' SubClassOf 'part_of' some 'Familial restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_159889 Label(s): acyl-CoA dehydrogenase long chain - 'acyl-CoA dehydrogenase long chain' SubClassOf 'has_chromosomal location' value "2q34"^^http://www.w3.org/2001/XMLSchema#string - 'acyl-CoA dehydrogenase long chain' SubClassOf 'gene with protein product' - 'acyl-CoA dehydrogenase long chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Long chain acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_201 Label(s): Cowden syndrome + 'Cowden syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_589746 Class: http://www.orpha.net/ORDO/Orphanet_217 Label(s): Isolated Dandy-Walker malformation - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Genetic cerebellar malformation' - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' + 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Genetic posterior fossa malformation' Class: http://www.orpha.net/ORDO/Orphanet_77261 Label(s): Gaucher disease type 3 - 'Gaucher disease type 3' SubClassOf 'part_of' some 'Lysosomal disease with restrictive cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2828 Label(s): Young-onset Parkinson disease - 'Young-onset Parkinson disease' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_2518 Label(s): Autosomal recessive chorioretinopathy-microcephaly syndrome + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label(s): calcium voltage-gated channel subunit alpha1 C - 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52901 Label(s): Isolated follicle stimulating hormone deficiency - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Non-acquired pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_119164 Label(s): calcium voltage-gated channel auxiliary subunit beta 2 - 'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_193 Label(s): Cohen syndrome + 'Cohen syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_186 Label(s): Primary biliary cholangitis + 'Primary biliary cholangitis' SubClassOf 'has_inheritance' some 'multigenic/multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_177 Label(s): Rhizomelic chondrodysplasia punctata - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_age_of_onset' some 'infancy' + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_1516 Label(s): Craniofacial dyssynostosis - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofacial dyssynostosis' SubClassOf 'part_of' some 'Cranial malformation' Class: http://www.orpha.net/ORDO/Orphanet_145 Label(s): Hereditary breast and ovarian cancer syndrome - 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_136 Label(s): Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some 'Genetic dementia' - 'Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy' SubClassOf 'part_of' some 'Rare dementia' Class: http://www.orpha.net/ORDO/Orphanet_117871 Label(s): plakophilin 2 - 'plakophilin 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'plakophilin 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_425120 Label(s): STING-associated vasculopathy with onset in infancy + 'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some 'Rare genetic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_71267 Label(s): Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Meningioma' Class: http://www.orpha.net/ORDO/Orphanet_352333 Label(s): Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_140989 Label(s): Primary angiitis of the central nervous system + 'Primary angiitis of the central nervous system' SubClassOf 'part_of' some 'Predominantly small-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_2616 Label(s): 3M syndrome - '3M syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' - '3M syndrome' SubClassOf 'has_age_of_onset' some 'infancy' + '3M syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_500095 Label(s): Tall stature-intellectual disability-renal anomalies syndrome + 'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_119990 Label(s): T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 + 'T cell immune regulator 1, ATPase H+ transporting V0 subunit a3' SubClassOf 'disease-causing germline mutation(s) in' some 'Dysosteosclerosis' Class: http://www.orpha.net/ORDO/Orphanet_394615 Label(s): synaptojanin 1 + 'synaptojanin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Young-onset Parkinson disease' Class: http://www.orpha.net/ORDO/Orphanet_523 Label(s): Hereditary leiomyomatosis and renal cell cancer + 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_589746 Class: http://www.orpha.net/ORDO/Orphanet_35122 Label(s): Congenital sucrase-isomaltase deficiency + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_age_of_onset' some 'adolescent' + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_age_of_onset' some 'adult' + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_119363 Label(s): complement factor H + 'complement factor H' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_244275 Class: http://www.orpha.net/ORDO/Orphanet_2773 Label(s): Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2776 Label(s): Autosomal recessive distal osteolysis syndrome + 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_99050 Label(s): Abnormal origin of right or left pulmonary artery from the aorta + 'Abnormal origin of right or left pulmonary artery from the aorta' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_238475 Label(s): Familial hypercholanemia - 'Familial hypercholanemia' SubClassOf 'part_of' some 'Rare metabolic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_123191 Label(s): MEFV innate immuity regulator, pyrin + 'MEFV innate immuity regulator, pyrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Sweet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251688 Label(s): RP1 like 1 + 'RP1 like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_329802 Label(s): 5p13 microduplication syndrome + '5p13 microduplication syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_300496 Label(s): Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_302951 Label(s): potassium voltage-gated channel subfamily D member 3 - 'potassium voltage-gated channel subfamily D member 3' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome' + 'potassium voltage-gated channel subfamily D member 3' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2869 Label(s): Peutz-Jeghers syndrome + 'Peutz-Jeghers syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_589746 Class: http://www.orpha.net/ORDO/Orphanet_352587 Label(s): Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_122768 Label(s): potassium voltage-gated channel subfamily E regulatory subunit 5 - 'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118498 Label(s): sodium voltage-gated channel beta subunit 1 - 'sodium voltage-gated channel beta subunit 1' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'sodium voltage-gated channel beta subunit 1' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93591 Label(s): Infantile nephronophthisis + 'Infantile nephronophthisis' SubClassOf 'has_age_of_onset' some 'childhood' + 'Infantile nephronophthisis' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') + 'Infantile nephronophthisis' SubClassOf 'has_age_of_onset' some 'neonatal' + 'Infantile nephronophthisis' SubClassOf 'has_age_of_onset' some 'antenatal' + 'Infantile nephronophthisis' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_185 Label(s): Scimitar syndrome + 'Scimitar syndrome' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_93173 Label(s): Renal dysplasia, bilateral + 'Renal dysplasia, bilateral' SubClassOf 'has_inheritance' some 'not genetically inherited' + 'Renal dysplasia, bilateral' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_98896 Label(s): Duchenne muscular dystrophy - 'Duchenne muscular dystrophy' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 15.1f) Class: http://www.orpha.net/ORDO/Orphanet_2431 Label(s): Central bilateral macrogyria - 'Central bilateral macrogyria' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_value' value 4.0f) - 'Central bilateral macrogyria' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '<1 / 1 000 000') - 'Central bilateral macrogyria' SubClassOf 'disease' - 'Central bilateral macrogyria' SubClassOf 'has_age_of_onset' some 'childhood' - 'Central bilateral macrogyria' SubClassOf 'has_inheritance' some 'unknown inheritance' - 'Central bilateral macrogyria' SubClassOf 'part_of' some 'Cerebral cortical dysplasia' + 'Central bilateral macrogyria' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_353277 Label(s): Rubinstein-Taybi syndrome due to CREBBP mutations - 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'clinical subtype' + 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2970 Label(s): Prune belly syndrome + 'Prune belly syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' Class: http://www.orpha.net/ORDO/Orphanet_99083 Label(s): Pulmonary artery hypoplasia + 'Pulmonary artery hypoplasia' SubClassOf 'part_of' some 'Respiratory malformation' Class: http://www.orpha.net/ORDO/Orphanet_572013 Label(s): Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' - 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_437180 Label(s): calmodulin 3 + 'calmodulin 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_68383 Label(s): Rare constitutional aplastic anemia + 'Rare constitutional aplastic anemia' SubClassOf 'Rare constitutional anemia' Class: http://www.orpha.net/ORDO/Orphanet_1727 Label(s): 22q11.2 microduplication syndrome - '22q11.2 microduplication syndrome' SubClassOf 'has_inheritance' some 'not genetically inherited' - '22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'infancy' + '22q11.2 microduplication syndrome' SubClassOf 'has_age_of_onset' some 'all ages' Class: http://www.orpha.net/ORDO/Orphanet_48435 Label(s): Postinfectious vasculitis + 'Postinfectious vasculitis' SubClassOf 'part_of' some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_3019 Label(s): Ramon syndrome + 'Ramon syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Ramon syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Ramon syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_363203 Label(s): Ring chromosome - 'Ring chromosome' SubClassOf 'Autosomal monosomy' + 'Ring chromosome' SubClassOf 'Autosomal anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2399 Label(s): Nasopalpebral lipoma-coloboma syndrome - 'Nasopalpebral lipoma-coloboma syndrome' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_139450 Label(s): Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'part_of' some 'Developmental defect of the eye' - 'Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'part_of' some 'Genetic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_2332 Label(s): KBG syndrome - 'KBG syndrome' SubClassOf 'has_inheritance' some 'not genetically inherited' + 'KBG syndrome' SubClassOf 'has_age_of_onset' some 'neonatal' + 'KBG syndrome' SubClassOf 'has_age_of_onset' some 'infancy' + 'KBG syndrome' SubClassOf 'has_age_of_onset' some 'adolescent' Class: http://www.orpha.net/ORDO/Orphanet_2322 Label(s): Kabuki syndrome + 'Kabuki syndrome' SubClassOf 'has_age_of_onset' some 'antenatal' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_494111 Label(s): WD repeat and FYVE domain containing 3 + 'WD repeat and FYVE domain containing 3' SubClassOf 'has_chromosomal location' value "4q21.23"^^http://www.w3.org/2001/XMLSchema#string + 'WD repeat and FYVE domain containing 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'WD repeat and FYVE domain containing 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_586292 Label(s): sirtuin 6 + 'sirtuin 6' SubClassOf 'gene with protein product' + 'sirtuin 6' SubClassOf 'has_chromosomal location' value "19p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'sirtuin 6' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Lethal brain and heart developmental defects' Class: http://www.orpha.net/ORDO/Orphanet_508970 Label(s): cadherin 2 + 'cadherin 2' SubClassOf 'has_chromosomal location' value "18q12.1"^^http://www.w3.org/2001/XMLSchema#string + 'cadherin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'cadherin 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_586130 Label(s): Sporadic fatal insomnia + 'Sporadic fatal insomnia' SubClassOf 'disease' + 'Sporadic fatal insomnia' SubClassOf 'part_of' some 'Sporadic human prion disease' Class: http://www.orpha.net/ORDO/Orphanet_98593 Label(s): OBSOLETE: Neurogenic palpebral tumor + 'OBSOLETE: Neurogenic palpebral tumor' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_470430 Label(s): heart and neural crest derivatives expressed 2 + 'heart and neural crest derivatives expressed 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated dilated cardiomyopathy' + 'heart and neural crest derivatives expressed 2' SubClassOf 'has_chromosomal location' value "4q34.1"^^http://www.w3.org/2001/XMLSchema#string + 'heart and neural crest derivatives expressed 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_585956 Label(s): B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) + 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_585948 Label(s): B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) + 'B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_585942 Label(s): B-lymphoblastic leukemia/lymphoma with hypodiploidy + 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_585936 Label(s): B-lymphoblastic leukemia/lymphoma with hyperdiploidy + 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_585929 Label(s): B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) + 'B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_585918 Label(s): B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) + 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_585909 Label(s): B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) + 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_506519 Label(s): cyclin dependent kinase 19 + 'cyclin dependent kinase 19' SubClassOf 'has_chromosomal location' value "6q21"^^http://www.w3.org/2001/XMLSchema#string + 'cyclin dependent kinase 19' SubClassOf 'disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy' + 'cyclin dependent kinase 19' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_585877 Label(s): B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'etiological subtype' + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_585867 Label(s): Acute myeloid leukemia with t(9;22)(q34.1;q11.2) + 'Acute myeloid leukemia with t(9;22)(q34.1;q11.2)' SubClassOf 'disease' + 'Acute myeloid leukemia with t(9;22)(q34.1;q11.2)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_519394 Label(s): OBSOLETE: Isolated microphakia + 'OBSOLETE: Isolated microphakia' SubClassOf 'obsolete class' Class: http://www.orpha.net/ORDO/Orphanet_244275 Label(s): De novo thrombotic microangiopathy after kidney transplantation + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf 'has_age_of_onset' some 'all ages' + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf 'part_of' some 'Thrombotic microangiopathy' + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf 'particular clinical situation in a disease or syndrome' + 'De novo thrombotic microangiopathy after kidney transplantation' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range') Class: http://www.orpha.net/ORDO/Orphanet_589905 Label(s): PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'part_of' some 'Syndromic obesity' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_509296 Label(s): TNF receptor associated factor 7 + 'TNF receptor associated factor 7' SubClassOf 'has_chromosomal location' value "16p13.3"^^http://www.w3.org/2001/XMLSchema#string + 'TNF receptor associated factor 7' SubClassOf 'disease-causing somatic mutation(s) in' some 'Meningioma' + 'TNF receptor associated factor 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_589833 Label(s): Late-onset Steinert myotonic dystrophy + 'Late-onset Steinert myotonic dystrophy' SubClassOf 'clinical subtype' + 'Late-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Steinert myotonic dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_589830 Label(s): Adult-onset Steinert myotonic dystrophy + 'Adult-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Adult-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Adult-onset Steinert myotonic dystrophy' SubClassOf 'clinical subtype' + 'Adult-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Steinert myotonic dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_589827 Label(s): Juvenile-onset Steinert myotonic dystrophy + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Steinert myotonic dystrophy' + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Juvenile-onset Steinert myotonic dystrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_589824 Label(s): Childhood-onset Steinert myotonic dystrophy + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf 'clinical subtype' + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Childhood-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Steinert myotonic dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_589821 Label(s): Congenital-onset Steinert myotonic dystrophy + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Steinert myotonic dystrophy' + 'Congenital-onset Steinert myotonic dystrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_585369 Label(s): tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 + 'tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2' SubClassOf 'has_chromosomal location' value "17q23.2-q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_469890 Label(s): ATP binding cassette subfamily C member 1 + 'ATP binding cassette subfamily C member 1' SubClassOf 'gene with protein product' + 'ATP binding cassette subfamily C member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'ATP binding cassette subfamily C member 1' SubClassOf 'has_chromosomal location' value "16p13.11"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_592894 Label(s): Acute disseminated encephalomyelitis with anti-MOG antibodies + 'Acute disseminated encephalomyelitis with anti-MOG antibodies' SubClassOf 'clinical subtype' + 'Acute disseminated encephalomyelitis with anti-MOG antibodies' SubClassOf 'part_of' some 'Acute disseminated encephalomyelitis' Class: http://www.orpha.net/ORDO/Orphanet_592869 Label(s): Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies + 'Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies' SubClassOf 'part_of' some 'Neuromyelitis optica spectrum disorder' + 'Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_589595 Label(s): Mixed phenotype acute leukemia with t(v;11q23.3) + 'Mixed phenotype acute leukemia with t(v;11q23.3)' SubClassOf 'part_of' some 'Mixed phenotype acute leukemia' + 'Mixed phenotype acute leukemia with t(v;11q23.3)' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_592856 Label(s): Neuromyelitis optica spectrum disorder with anti-MOG antibodies + 'Neuromyelitis optica spectrum disorder with anti-MOG antibodies' SubClassOf 'clinical subtype' + 'Neuromyelitis optica spectrum disorder with anti-MOG antibodies' SubClassOf 'part_of' some 'Neuromyelitis optica spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_589547 Label(s): GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'part_of' some 'Rare disease with autism' + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'disease' + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_589542 Label(s): Myeloid/lymphoid neoplasm associated with JAK2 rearrangement + 'Myeloid/lymphoid neoplasm associated with JAK2 rearrangement' SubClassOf 'disease' + 'Myeloid/lymphoid neoplasm associated with JAK2 rearrangement' SubClassOf 'part_of' some 'Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://www.orpha.net/ORDO/Orphanet_589534 Label(s): Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) + 'Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)' SubClassOf 'part_of' some 'Mixed phenotype acute leukemia' + 'Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_589527 Label(s): Spinocerebellar ataxia type 45 + 'Spinocerebellar ataxia type 45' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type III' + 'Spinocerebellar ataxia type 45' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_509088 Label(s): Janus kinase 1 + 'Janus kinase 1' SubClassOf 'gene with protein product' + 'Janus kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency' + 'Janus kinase 1' SubClassOf 'has_chromosomal location' value "1p31.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_590539 Label(s): Isolated melanotic schwannoma + 'Isolated melanotic schwannoma' SubClassOf 'disease' + 'Isolated melanotic schwannoma' SubClassOf 'part_of' some 'Benign peripheral nerve sheath tumor' + 'Isolated melanotic schwannoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' Class: http://www.orpha.net/ORDO/Orphanet_586469 Label(s): trafficking protein particle complex 4 + 'trafficking protein particle complex 4' SubClassOf 'gene with protein product' + 'trafficking protein particle complex 4' SubClassOf 'has_chromosomal location' value "11q23.3"^^http://www.w3.org/2001/XMLSchema#string + 'trafficking protein particle complex 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_589746 Label(s): Inherited gynecological cancer-predisposing syndrome + 'Inherited gynecological cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' + 'Inherited gynecological cancer-predisposing syndrome' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_589435 Label(s): Spondylometaphyseal dysplasia-corneal dystrophy syndrome + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Spondylometaphyseal dysplasia' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'malformation syndrome' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Syndromic corneal dystrophy' + 'Spondylometaphyseal dysplasia-corneal dystrophy syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_589442 Label(s): Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic inherited retinal disorder' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with multiple joint dislocations' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'malformation syndrome' + 'Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_592900 Label(s): Acute disseminated encephalomyelitis without anti-MOG antibodies + 'Acute disseminated encephalomyelitis without anti-MOG antibodies' SubClassOf 'part_of' some 'Acute disseminated encephalomyelitis' + 'Acute disseminated encephalomyelitis without anti-MOG antibodies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_589515 Label(s): PUM1-associated developmental disability-ataxia-seizure syndrome + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type I' + 'PUM1-associated developmental disability-ataxia-seizure syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_589522 Label(s): Spinocerebellar ataxia type 46 + 'Spinocerebellar ataxia type 46' SubClassOf 'disease' + 'Spinocerebellar ataxia type 46' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' + 'Spinocerebellar ataxia type 46' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type I' Class: http://www.orpha.net/ORDO/Orphanet_587127 Label(s): DALR anticodon binding domain containing 3 + 'DALR anticodon binding domain containing 3' SubClassOf 'gene with protein product' + 'DALR anticodon binding domain containing 3' SubClassOf 'has_chromosomal location' value "3p21.31"^^http://www.w3.org/2001/XMLSchema#string + 'DALR anticodon binding domain containing 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Undetermined early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_587121 Label(s): neuron derived neurotrophic factor + 'neuron derived neurotrophic factor' SubClassOf 'gene with protein product' + 'neuron derived neurotrophic factor' SubClassOf 'has_chromosomal location' value "4q27"^^http://www.w3.org/2001/XMLSchema#string + 'neuron derived neurotrophic factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Kallmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_587118 Label(s): NAD synthetase 1 + 'NAD synthetase 1' SubClassOf 'gene with protein product' + 'NAD synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital vertebral-cardiac-renal anomalies syndrome' + 'NAD synthetase 1' SubClassOf 'has_chromosomal location' value "11q13.4"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_587111 Label(s): nucleolus and neural progenitor protein + 'nucleolus and neural progenitor protein' SubClassOf 'gene with protein product' + 'nucleolus and neural progenitor protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Anauxetic dysplasia' + 'nucleolus and neural progenitor protein' SubClassOf 'has_chromosomal location' value "3q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_592574 Label(s): Menke-Hennekam syndrome + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Menke-Hennekam syndrome' SubClassOf 'malformation syndrome' + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' + 'Menke-Hennekam syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' Class: http://www.orpha.net/ORDO/Orphanet_592570 Label(s): TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb malformations as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'malformation syndrome' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Syndrome with limb malformations as a major feature' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_592564 Label(s): GNAO1-related developmental delay-seizures-movement disorder spectrum + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Rare genetic hyperkinetic movement disorder' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Rare hyperkinetic movement disorder' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'disease' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_589608 Label(s): Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf 'part_of' some 'Hypopigmentation of the skin' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations' + 'Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_589618 Label(s): Dystonia 28 + 'Dystonia 28' SubClassOf 'part_of' some 'Rare syndromic intellectual disability' + 'Dystonia 28' SubClassOf 'part_of' some 'Persistent combined dystonia' + 'Dystonia 28' SubClassOf 'disease' + 'Dystonia 28' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_592850 Label(s): Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies + 'Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies' SubClassOf 'part_of' some 'Neuromyelitis optica spectrum disorder' + 'Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_592873 Label(s): Acute transverse myelitis with anti-MOG antibodies + 'Acute transverse myelitis with anti-MOG antibodies' SubClassOf 'clinical subtype' + 'Acute transverse myelitis with anti-MOG antibodies' SubClassOf 'part_of' some 'Acute transverse myelitis' Class: http://www.orpha.net/ORDO/Orphanet_592885 Label(s): Isolated optic neuritis without anti-MOG antibodies + 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'clinical subtype' + 'Isolated optic neuritis without anti-MOG antibodies' SubClassOf 'part_of' some 'Isolated optic neuritis' Class: http://www.orpha.net/ORDO/Orphanet_592888 Label(s): Optic neuritis with anti-MOG antibodies + 'Optic neuritis with anti-MOG antibodies' SubClassOf 'part_of' some 'Isolated optic neuritis' + 'Optic neuritis with anti-MOG antibodies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_470518 Label(s): interferon regulatory factor 7 + 'interferon regulatory factor 7' SubClassOf 'candidate gene tested in' some 'Predisposition to severe viral infection due to IRF7 deficiency' + 'interferon regulatory factor 7' SubClassOf 'gene with protein product' + 'interferon regulatory factor 7' SubClassOf 'has_chromosomal location' value "11p15.5"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_589856 Label(s): Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'malformation syndrome' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Syndromic hypothyroidism' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Genetic nose and cavum anomaly' + 'Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'part_of' some 'Syndrome with hypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_586548 Label(s): methyltransferase like 5 + 'methyltransferase like 5' SubClassOf 'gene with protein product' + 'methyltransferase like 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly' + 'methyltransferase like 5' SubClassOf 'has_chromosomal location' value "2q31.1"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_586512 Label(s): malonyl-CoA-acyl carrier protein transacylase + 'malonyl-CoA-acyl carrier protein transacylase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive isolated optic atrophy' + 'malonyl-CoA-acyl carrier protein transacylase' SubClassOf 'gene with protein product' + 'malonyl-CoA-acyl carrier protein transacylase' SubClassOf 'has_chromosomal location' value "22q13.2"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_586501 Label(s): triokinase and FMN cyclase + 'triokinase and FMN cyclase' SubClassOf 'has_chromosomal location' value "11q12.2"^^http://www.w3.org/2001/XMLSchema#string + 'triokinase and FMN cyclase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome' + 'triokinase and FMN cyclase' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_586494 Label(s): junctional adhesion molecule 2 + 'junctional adhesion molecule 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Bilateral striopallidodentate calcinosis' + 'junctional adhesion molecule 2' SubClassOf 'gene with protein product' + 'junctional adhesion molecule 2' SubClassOf 'has_chromosomal location' value "21q21.3"^^http://www.w3.org/2001/XMLSchema#string Class: http://www.orpha.net/ORDO/Orphanet_586486 Label(s): IKAROS family zinc finger 5 + 'IKAROS family zinc finger 5' SubClassOf 'gene with protein product' + 'IKAROS family zinc finger 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' Class: http://www.orpha.net/ORDO/Orphanet_586477 Label(s): DEAH-box helicase 37 + 'DEAH-box helicase 37' SubClassOf 'disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis' + 'DEAH-box helicase 37' SubClassOf 'has_chromosomal location' value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string + 'DEAH-box helicase 37' SubClassOf 'disease-causing germline mutation(s) in' some 'Testicular regression syndrome' + 'DEAH-box helicase 37' SubClassOf 'gene with protein product' + 'DEAH-box helicase 37' SubClassOf 'disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_586463 Label(s): collectrin, amino acid transport regulator + 'collectrin, amino acid transport regulator' SubClassOf 'disease-causing germline mutation(s) in' some 'Hartnup disease' + 'collectrin, amino acid transport regulator' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_586454 Label(s): mediator complex subunit 12L + 'mediator complex subunit 12L' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'mediator complex subunit 12L' SubClassOf 'has_chromosomal location' value "3q25.1"^^http://www.w3.org/2001/XMLSchema#string + 'mediator complex subunit 12L' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_494085 Label(s): ASH1 like histone lysine methyltransferase + 'ASH1 like histone lysine methyltransferase' SubClassOf 'gene with protein product' + 'ASH1 like histone lysine methyltransferase' SubClassOf 'has_chromosomal location' value "1q22"^^http://www.w3.org/2001/XMLSchema#string + 'ASH1 like histone lysine methyltransferase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_500290 Label(s): cytochrome c oxidase subunit 4I1 + 'cytochrome c oxidase subunit 4I1' SubClassOf 'gene with protein product' + 'cytochrome c oxidase subunit 4I1' SubClassOf 'has_chromosomal location' value "16q24.1"^^http://www.w3.org/2001/XMLSchema#string + 'cytochrome c oxidase subunit 4I1' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_284408 Label(s): Glycerol kinase deficiency, infantile form + 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Isolated glycerol kinase deficiency' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual disability' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'has_age_of_onset' some 'infancy' Class: http://www.orpha.net/ORDO/Orphanet_325604 Label(s): minichromosome maintenance complex component 6 + 'minichromosome maintenance complex component 6' SubClassOf 'gene with protein product' + 'minichromosome maintenance complex component 6' SubClassOf 'has_chromosomal location' value "2q21.3"^^http://www.w3.org/2001/XMLSchema#string + 'minichromosome maintenance complex component 6' SubClassOf 'candidate gene tested in' some 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' Class: http://www.orpha.net/ORDO/Orphanet_455925 Label(s): RAP1B, member of RAS oncogene family + 'RAP1B, member of RAS oncogene family' SubClassOf 'has_chromosomal location' value "12q15"^^http://www.w3.org/2001/XMLSchema#string + 'RAP1B, member of RAS oncogene family' SubClassOf 'disease-causing germline mutation(s) in' some 'Kabuki syndrome' + 'RAP1B, member of RAS oncogene family' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_77243 Label(s): Lipedema + 'Lipedema' SubClassOf 'disease' + 'Lipedema' SubClassOf 'has_age_of_onset' some 'adolescent' + 'Lipedema' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disorder' + 'Lipedema' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.39f) + 'Lipedema' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Lipedema' SubClassOf 'has_age_of_onset' some 'adult' + 'Lipedema' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') Class: http://www.orpha.net/ORDO/Orphanet_448950 Label(s): RAP1A, member of RAS oncogene family + 'RAP1A, member of RAS oncogene family' SubClassOf 'has_chromosomal location' value "1p13.2"^^http://www.w3.org/2001/XMLSchema#string + 'RAP1A, member of RAS oncogene family' SubClassOf 'gene with protein product' + 'RAP1A, member of RAS oncogene family' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Kabuki syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247854 Label(s): Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies + 'Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'etiological subtype' + 'Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies' SubClassOf 'part_of' some 'Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_159889 Label(s): acyl-CoA dehydrogenase long chain + 'acyl-CoA dehydrogenase long chain' SubClassOf 'has_chromosomal location' value "2q34"^^http://www.w3.org/2001/XMLSchema#string + 'acyl-CoA dehydrogenase long chain' SubClassOf 'gene with protein product' + 'acyl-CoA dehydrogenase long chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Long chain acyl-CoA dehydrogenase deficiency'