########################################### ##### ##### ##### ##### # # # # # # # # # # ##### # # # # # # ## # # # # # # # # # # # # # # # # # # # # ##### # # ##### ##### ########################################### Release notes : Version: 1.1 Date : 7th April 2014 1. No. of classes modified: 1777 2. No. of classes that have been added: 185 3. No. of classes that have been deleted: 140 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_168972 Label: Kahrizi syndrome - 'Kahrizi syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_325524 Label: Classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' + 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_325529 Label: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some 'Congenital lipoid adrenal hyperplasia due to STAR deficency' Class: http://www.orpha.net/ORDO/Orphanet_1487 Label: Cooks syndrome - 'Cooks syndrome' SubClassOf 'malformation syndrome' + 'Cooks syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1485 Label: Arthrogryposis - hyperkeratosis, lethal form - 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' + 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_182050 Label: MYH9-related thrombocytopenia - 'MYH9-related thrombocytopenia' SubClassOf 'disease' + 'MYH9-related thrombocytopenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1497 Label: X-linked complicated corpus callosum dysgenesis - 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' + 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_35701 Label: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' + '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1465 Label: Coffin-Siris syndrome - 'Coffin-Siris syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_1460 Label: Isolated CoQ-cytochrome C reductase deficiency - 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' + 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1461 Label: Criss-cross heart - 'Criss-cross heart' SubClassOf 'part_of' some 'Atrioventricular discordance' + 'Criss-cross heart' SubClassOf 'part_of' some 'Congenital heart malformation' Class: http://www.orpha.net/ORDO/Orphanet_240691 Label: Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ventricular septal defect' - 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Major susceptibility factor in' some 'Single ventricular septal defect' + 'Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_97668 Label: Neonatal membranous glomerulopathy with maternal NEP deficiency - 'Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf 'malformation syndrome' + 'Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_1474 Label: Colobomatous - microphthalmia - heart disease - hearing loss - 'Colobomatous - microphthalmia - heart disease - hearing loss' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2056 Label: Essential fructosuria - 'Essential fructosuria' SubClassOf 'disease' + 'Essential fructosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1452 Label: Cleidocranial dysplasia + 'Cleidocranial dysplasia' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_2066 Label: Gamma-aminobutyric acid transaminase deficiency - 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' + 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254492 Label: Frontal fibrosing alopecia - 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Lichen planopilaris' - 'Frontal fibrosing alopecia' SubClassOf 'clinical subtype' + 'Frontal fibrosing alopecia' SubClassOf 'disease' + 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Alopecia' + 'Frontal fibrosing alopecia' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' Class: http://www.orpha.net/ORDO/Orphanet_284818 Label: Disorder of tyrosine metabolism - 'Disorder of tyrosine metabolism' SubClassOf 'group of phenome' + 'Disorder of tyrosine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_35710 Label: Glucose-galactose malabsorption - 'Glucose-galactose malabsorption' SubClassOf 'disease' + 'Glucose-galactose malabsorption' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284814 Label: Disorder of phenylalanine metabolism - 'Disorder of phenylalanine metabolism' SubClassOf 'group of phenome' + 'Disorder of phenylalanine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_35708 Label: Aromatic L-amino acid decarboxylase deficiency - 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' + 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35706 Label: Glutaric acidemia type 3 - 'Glutaric acidemia type 3' SubClassOf 'disease' + 'Glutaric acidemia type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1426 Label: Greenberg dysplasia - 'Greenberg dysplasia' SubClassOf 'disease' + 'Greenberg dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35705 Label: Neurometabolic disorder due to serine deficiency - 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of phenome' + 'Neurometabolic disorder due to serine deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_35704 Label: Arginine:glycine amidinotransferase deficiency - 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' + 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280071 Label: ALG11-CDG - 'ALG11-CDG' SubClassOf 'disease' + 'ALG11-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284804 Label: Ocular albinism - 'Ocular albinism' SubClassOf 'group of phenome' + 'Ocular albinism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1432 Label: Autosomal dominant chorioretinopathy - microcephaly - 'Autosomal dominant chorioretinopathy - microcephaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1431 Label: Paroxysmal dyskinesia - 'Paroxysmal dyskinesia' SubClassOf 'Infantile convulsions and choreoathetosis' Class: http://www.orpha.net/ORDO/Orphanet_1401 Label: CHAND syndrome - 'CHAND syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1410 Label: Uncombable hair syndrome - 'Uncombable hair syndrome' SubClassOf 'malformation syndrome' + 'Uncombable hair syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2076 Label: X-linked intellectual deficit - epilepsy - 'X-linked intellectual deficit - epilepsy' SubClassOf 'part_of' some 'X-linked syndromic intellectual deficit' - 'X-linked intellectual deficit - epilepsy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'X-linked intellectual deficit - epilepsy' SubClassOf 'disease' + 'X-linked intellectual deficit - epilepsy' SubClassOf 'X-linked syndromic intellectual deficit' + 'X-linked intellectual deficit - epilepsy' SubClassOf 'group of phenome' + 'X-linked intellectual deficit - epilepsy' SubClassOf 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2072 Label: Gaucher disease - ophthalmoplegia - cardiovascular calcification - 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' + 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2088 Label: Glycogen storage disease due to GLUT2 deficiency - 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2089 Label: Glycogen storage disease due to hepatic glycogen synthase deficiency - 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2102 Label: GTP cyclohydrolase I deficiency - 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' + 'GTP cyclohydrolase I deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119157 Label: calcium channel, voltage-dependent, L type, alpha 1S subunit - 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' + 'calcium channel, voltage-dependent, L type, alpha 1S subunit' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' Class: http://www.orpha.net/ORDO/Orphanet_35696 Label: Mitochondrial disorder due to a defect in mitochondrial protein synthesis - 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of phenome' + 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_363454 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'part_of' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' Class: http://www.orpha.net/ORDO/Orphanet_35698 Label: Mitochondrial DNA depletion syndrome - 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of phenome' + 'Mitochondrial DNA depletion syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_42738 Label: Severe congenital neutropenia - 'Severe congenital neutropenia' SubClassOf 'group of phenome' + 'Severe congenital neutropenia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2138 Label: 46,XX ovotesticular disorder of sex development - '46,XX ovotesticular disorder of sex development' SubClassOf 'has_prevalence' some 'Unknown' + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_119129 Label: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'calcium channel, voltage-dependent, P/Q type, alpha 1A subunit' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_2125 Label: Sacral hemangiomas - multiple congenital abnormalities - 'Sacral hemangiomas - multiple congenital abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2113 Label: Congenital hypothalamic hamartoma syndrome - 'Congenital hypothalamic hamartoma syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2116 Label: Hartnup syndrome - 'Hartnup syndrome' SubClassOf 'disease' + 'Hartnup syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2118 Label: Hawkinsinuria - 'Hawkinsinuria' SubClassOf 'disease' + 'Hawkinsinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2110 Label: Hallux varus - preaxial polysyndactyly - 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' + 'Hallux varus - preaxial polysyndactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_178315 Label: Undifferentiated embryonal sarcoma of the liver - 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' + 'Undifferentiated embryonal sarcoma of the liver' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123245 Label: McKusick-Kaufman syndrome (Gen) - 'McKusick-Kaufman syndrome (Gen)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Laurence-Moon syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95428 Label: COG8-CDG - 'COG8-CDG' SubClassOf 'disease' + 'COG8-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_117995 Label: perforin 1 (pore forming protein) + 'perforin 1 (pore forming protein)' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391343 Class: http://www.orpha.net/ORDO/Orphanet_34587 Label: Glycogen storage disease due to LAMP-2 deficiency - 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123090 Label: lamin A/C - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_97552 Label: Steroid-sensitive nephrotic syndrome without renal biopsy - 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf 'etiological subtype' - 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_97555 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'group of phenome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'histopathological subtype' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'part_of' some 'Sporadic idiopathic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_232228 Label: transmembrane and coiled-coil domains 1 + 'transmembrane and coiled-coil domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebro-facio-thoracic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_97563 Label: Pauci-immune glomerulonephritis with ANCA - 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'etiological subtype' + 'Pauci-immune glomerulonephritis with ANCA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_97566 Label: Non-amyloid fibrillary glomerulopathy - 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'Immunotactoid or fibrillary glomerulopathy' + 'Non-amyloid fibrillary glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_97567 Label: Immunotactoid glomerulopathy - 'Immunotactoid glomerulopathy' SubClassOf 'Immunotactoid or fibrillary glomerulopathy' + 'Immunotactoid glomerulopathy' SubClassOf 'part_of' some 'Immunotactoid or fibrillary glomerulopathy' Class: http://www.orpha.net/ORDO/Orphanet_97564 Label: Pauci-immune glomerulonephritis without ANCA - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'Pauci-immune glomerulonephritis' - 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'disease' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'clinical subtype' + 'Pauci-immune glomerulonephritis without ANCA' SubClassOf 'part_of' some 'Pauci-immune glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_97557 Label: Chronic proteinuria with focal and segmental hyalinosis - 'Chronic proteinuria with focal and segmental hyalinosis' SubClassOf 'part_of' some 'Primary glomerular disease' - 'Chronic proteinuria with focal and segmental hyalinosis' SubClassOf 'disease' + 'Chronic proteinuria with focal and segmental hyalinosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_280183 Label: Methylmalonic aciduria due to transcobalamin receptor defect - 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anamoly' + 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'biological anamoly' Class: http://www.orpha.net/ORDO/Orphanet_2157 Label: Histidinemia - 'Histidinemia' SubClassOf 'disease' + 'Histidinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1557 Label: Cutis verticis gyrata - intellectual deficit - 'Cutis verticis gyrata - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2168 Label: Homocarnosinosis - 'Homocarnosinosis' SubClassOf 'disease' + 'Homocarnosinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2169 Label: Methylcobalamin deficiency type cblE - 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' - 'Methylcobalamin deficiency type cblE' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Methylcobalamin deficiency type cblE' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1551 Label: Familial benign copper deficiency - 'Familial benign copper deficiency' SubClassOf 'disease' + 'Familial benign copper deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93951 Label: X-linked dominant intellectual deficit - epilepsy - 'X-linked dominant intellectual deficit - epilepsy' SubClassOf 'clinical subtype' + 'X-linked dominant intellectual deficit - epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93952 Label: X-linked intellectual disability, Hedera type - 'X-linked intellectual disability, Hedera type' SubClassOf 'clinical subtype' + 'X-linked intellectual disability, Hedera type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2170 Label: Methylcobalamin deficiency type cblG - 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblG' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93953 Label: Familial thyroglossal duct cyst - 'Familial thyroglossal duct cyst' SubClassOf 'etiological subtype' + 'Familial thyroglossal duct cyst' SubClassOf 'morphological anamoly' Class: http://www.orpha.net/ORDO/Orphanet_217371 Label: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' + 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_361157 Label: sodium channel, voltage-gated, type II, beta subunit - 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type II, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_1569 Label: De Sanctis-Cacchione syndrome - 'De Sanctis-Cacchione syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1566 Label: Dandy-Walker malformation - postaxial polydactyly - 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1561 Label: Fatal infantile cytochrome C oxidase deficiency - 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2174 Label: Hunter-Carpenter-McDonald syndrome - 'Hunter-Carpenter-McDonald syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2172 Label: Microcephaly - glomerulonephritis - marfanoid habitus - 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' + 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93942 Label: Celosomia - 'Celosomia' SubClassOf 'part_of' some 'Rare surgical thoracic disease' - 'Celosomia' SubClassOf 'clinical subtype' + 'Celosomia' SubClassOf 'morphological anamoly' Class: http://www.orpha.net/ORDO/Orphanet_93943 Label: Corpus callosum dysgenesis - hypopituitarism - 'Corpus callosum dysgenesis - hypopituitarism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93944 Label: X-linked intellectual deficit, Fichera type - 'X-linked intellectual deficit, Fichera type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_35858 Label: Gr�sbeck-Imerslund disease - 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' + 'Gr�sbeck-Imerslund disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1578 Label: Dehydratase deficiency - 'Dehydratase deficiency' SubClassOf 'clinical subtype' + 'Dehydratase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1576 Label: Infantile bilateral striatal necrosis + 'Infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_2182 Label: Hydrocephalus with stenosis of aqueduct of Sylvius - 'Hydrocephalus with stenosis of aqueduct of Sylvius' SubClassOf 'clinical subtype' + 'Hydrocephalus with stenosis of aqueduct of Sylvius' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1572 Label: Common variable immunodeficiency - 'Common variable immunodeficiency' SubClassOf 'disease' + 'Common variable immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35878 Label: Hyperinsulinism-hyperammonemia syndrome - 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281695 Label: N(alpha)-acetyltransferase 10, NatA catalytic subunit + 'N(alpha)-acetyltransferase 10, NatA catalytic subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microphthalmia, Lenz type' Class: http://www.orpha.net/ORDO/Orphanet_217390 Label: Combined immunodeficiency due to DOCK8 deficiency - 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'etiological subtype' + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2199 Label: Epidermolytic palmoplantar keratoderma - 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' + 'Epidermolytic palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2198 Label: Palmoplantar keratoderma-esophageal carcinoma syndrome - 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2196 Label: Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement - 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement' SubClassOf 'disease' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement' SubClassOf 'disease' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_2195 Label: Dicarboxylic aminoaciduria - 'Dicarboxylic aminoaciduria' SubClassOf 'disease' + 'Dicarboxylic aminoaciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93969 Label: Myelomeningocele - 'Myelomeningocele' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93968 Label: Meningocele - 'Meningocele' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1509 Label: Coxo-podo-patellar syndrome - 'Coxo-podo-patellar syndrome' SubClassOf 'disease' + 'Coxo-podo-patellar syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217382 Label: Neurodegenerative syndrome due to cerebral folate transport deficiency - 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' + 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_49827 Label: Thiamine-responsive megaloblastic anemia syndrome - 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' + 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1519 Label: Hypertelorism, Teebi type - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Cranial malformation' + 'Hypertelorism, Teebi type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_1521 Label: Craniofrontonasal dysplasia - Poland anomaly - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Cranial malformation' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_1520 Label: Craniofrontonasal dysplasia - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Cranial malformation' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit' + 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_122035 Label: GATA binding protein 4 - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ventricular septal defect' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' - 'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - left heart obstruction' Class: http://www.orpha.net/ORDO/Orphanet_2203 Label: Hyperlysinemia - 'Hyperlysinemia' SubClassOf 'disease' + 'Hyperlysinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2201 Label: Palmoplantar keratoderma-spastic paralysis syndrome - 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2202 Label: Palmoplantar keratoderma-deafness syndrome - 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2200 Label: Focal palmoplantar and gingival keratoderma - 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' + 'Focal palmoplantar and gingival keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_212892 Label: solute carrier family 1 (glial high affinity glutamate transporter), member 3 - 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'solute carrier family 1 (glial high affinity glutamate transporter), member 3' SubClassOf 'Candidate gene tested in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_319651 Label: Constitutional megaloblastic anemia with severe neurologic disease - 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2224 Label: Hypertryptophanemia - 'Hypertryptophanemia' SubClassOf 'disease' + 'Hypertryptophanemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_285763 Label: molybdenum cofactor synthesis 3 - 'molybdenum cofactor synthesis 3' SubClassOf 'gene' - 'molybdenum cofactor synthesis 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_319646 Label: PGM-CDG - 'PGM-CDG' SubClassOf 'disease' + 'PGM-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2216 Label: Maternal hyperthermia induced birth defects - 'Maternal hyperthermia induced birth defects' SubClassOf 'disease' + 'Maternal hyperthermia induced birth defects' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2209 Label: Maternal hyperphenylalaninemia - 'Maternal hyperphenylalaninemia' SubClassOf 'disease' + 'Maternal hyperphenylalaninemia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2244 Label: Hypopituitarism - microphthalmia - 'Hypopituitarism - microphthalmia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2243 Label: Hypopituitarism - micropenis - cleft lip/palate - 'Hypopituitarism - micropenis - cleft lip/palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2245 Label: Hypopituitarism - postaxial polydactyly - 'Hypopituitarism - postaxial polydactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_73217 Label: Mullerian aplasia - 'Mullerian aplasia' SubClassOf 'group of phenome' + 'Mullerian aplasia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_5 Label: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_6 Label: Isolated 3-methylcrotonyl-CoA carboxylase deficiency - 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' + 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217315 Label: Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness - 'Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_248276 Label: mitogen-activated protein kinase 10 - 'mitogen-activated protein kinase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lennox-Gastaut syndrome' + 'mitogen-activated protein kinase 10' SubClassOf 'Candidate gene tested in' some 'Lennox-Gastaut syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261222 Label: Distal 16p11.2 microdeletion syndrome + 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_2269 Label: Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit - 'Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit' SubClassOf 'disease' + 'Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_313850 Label: Infantile cerebellar-retinal degeneration - 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' + 'Infantile cerebellar-retinal degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75496 Label: Ehlers-Danlos syndrome, progeroid type - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101943 Label: Rare hepatic and biliary tract tumor - 'Rare hepatic and biliary tract tumor' SubClassOf 'group of phenome' + 'Rare hepatic and biliary tract tumor' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_97599 Label: Arterial hypertension due to renal artery stenosis secondary to vasculitis - 'Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf 'part_of' some 'Rare cause of hypertension' - 'Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf 'disease' + 'Arterial hypertension due to renal artery stenosis secondary to vasculitis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_117832 Label: paired-like homeodomain 2 + 'paired-like homeodomain 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_97569 Label: Unclassified glomerulonephritis - 'Unclassified glomerulonephritis' SubClassOf 'Secondary glomerular disease' - 'Unclassified glomerulonephritis' SubClassOf 'group of phenome' + 'Unclassified glomerulonephritis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101953 Label: Rare dyslipidemia - 'Rare dyslipidemia' SubClassOf 'group of phenome' + 'Rare dyslipidemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_90641 Label: Mitochondrial nonsyndromic sensorineural deafness - 'Mitochondrial nonsyndromic sensorineural deafness' SubClassOf 'etiological subtype' + 'Mitochondrial nonsyndromic sensorineural deafness' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label: breast cancer 1, early onset - 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 1, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_90649 Label: Oral-facial-digital syndrome type 7 - 'Oral-facial-digital syndrome type 7' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_119066 Label: v-raf murine sarcoma viral oncogene homolog B + 'v-raf murine sarcoma viral oncogene homolog B' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' Class: http://www.orpha.net/ORDO/Orphanet_280210 Label: Pelizaeus-Merzbacher disease, connatal form - 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_324977 Label: Proteasome disability syndrome + 'Proteasome disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'Proteasome disability syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_117871 Label: plakophilin 2 - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label: breast cancer 2, early onset - 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'breast cancer 2, early onset' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_90625 Label: X-linked nonsyndromic sensorineural deafness type DFN - 'X-linked nonsyndromic sensorineural deafness type DFN' SubClassOf 'part_of' some 'Disorder of purine metabolism' - 'X-linked nonsyndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' + 'X-linked nonsyndromic sensorineural deafness type DFN' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_324964 Label: Chronic recurrent multifocal osteomyelitis + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_319678 Label: Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease - 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' + 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280219 Label: Pelizaeus-Merzbacher disease, classic form - 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_217093 Label: Mucopolysaccharidosis type 2, attenuated form - 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1245 Label: BIDS syndrome - 'BIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1246 Label: Brachydactyly - nystagmus - cerebellar ataxia - 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' + 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3383 Label: Humerus trochlea aplasia - 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' - 'Humerus trochlea aplasia' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia' + 'Humerus trochlea aplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3391 Label: Odonto-onycho-hypohidrotic dysplasia - midline scalp defects - 'Odonto-onycho-hypohidrotic dysplasia - midline scalp defects' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3390 Label: Proximal tubulopathy - diabetes mellitus - cerebellar ataxia - 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' + 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217085 Label: Mucopolysaccharidosis type 2, severe form - 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1251 Label: Blepharo-facio-skeletal syndrome - 'Blepharo-facio-skeletal syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1219 Label: Aurocephalosyndactyly - 'Aurocephalosyndactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3369 Label: Trigonocephaly - short stature - developmental delay - 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' + 'Trigonocephaly - short stature - developmental delay' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_217071 Label: Non-familial renal cell carcinoma - 'Non-familial renal cell carcinoma' SubClassOf 'Rare renal tumor' - 'Non-familial renal cell carcinoma' SubClassOf 'group of phenome' + 'Non-familial renal cell carcinoma' SubClassOf 'part_of' some 'Rare renal tumor' + 'Non-familial renal cell carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1228 Label: Banki syndrome - 'Banki syndrome' SubClassOf 'malformation syndrome' + 'Banki syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1235 Label: Ectodermal dysplasia - absent dermatoglyphs - 'Ectodermal dysplasia - absent dermatoglyphs' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_217064 Label: 5-fluorouracil poisoning - '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + '5-fluorouracil poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3376 Label: Triploidy + 'Triploidy' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_324525 Label: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation - 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_206436 Label: Infantile Krabbe disease - 'Infantile Krabbe disease' SubClassOf 'clinical subtype' + 'Infantile Krabbe disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_96 Label: Ataxia with vitamin E deficiency - 'Ataxia with vitamin E deficiency' SubClassOf 'disease' + 'Ataxia with vitamin E deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98908 Label: Neutral lipid storage myopathy - 'Neutral lipid storage myopathy' SubClassOf 'disease' + 'Neutral lipid storage myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93 Label: Aspartylglucosaminuria - 'Aspartylglucosaminuria' SubClassOf 'disease' + 'Aspartylglucosaminuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98907 Label: Dorfman-Chanarin disease - 'Dorfman-Chanarin disease' SubClassOf 'disease' + 'Dorfman-Chanarin disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324535 Label: Combined oxidative phosphorylation defect type 11 - 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 11' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_206448 Label: Adult Krabbe disease - 'Adult Krabbe disease' SubClassOf 'clinical subtype' + 'Adult Krabbe disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_206443 Label: Late-infantile/juvenile Krabbe disease - 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' + 'Late-infantile/juvenile Krabbe disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1293 Label: Brachyolmia - 'Brachyolmia' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' - 'Brachyolmia' SubClassOf 'disease' + 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' + 'Brachyolmia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_90 Label: Argininemia - 'Argininemia' SubClassOf 'disease' + 'Argininemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_50816 Label: Spondylometaphyseal dysplasia with combined immunodeficiency - 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_50812 Label: Zellweger-like syndrome without peroxisomal anomalies - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' + 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280234 Label: Null syndrome - 'Null syndrome' SubClassOf 'clinical subtype' + 'Null syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1271 Label: Bowen syndrome - 'Bowen syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_280229 Label: Pelizaeus-Merzbacher disease in female carriers - 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1278 Label: Brachydactyly - preaxial hallux varus - 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' + 'Brachydactyly - preaxial hallux varus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206428 Label: Hypoxanthine-guanine phosphoribosyltransferase deficiency - 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of phenome' + 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_280224 Label: Pelizaeus-Merzbacher disease, transitional form - 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' + 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_157855 Label: HARP syndrome - 'HARP syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_157850 Label: Pantothenate kinase-associated neurodegeneration - 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' + 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98932 Label: Shy-Drager syndrome - 'Shy-Drager syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Shy-Drager syndrome' SubClassOf 'clinical subtype' - 'Shy-Drager syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Shy-Drager syndrome' SubClassOf 'part_of' some 'Multiple system atrophy' - 'Shy-Drager syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Shy-Drager syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93613 Label: Cystinuria type B - 'Cystinuria type B' SubClassOf 'etiological subtype' + 'Cystinuria type B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_93612 Label: Cystinuria type A - 'Cystinuria type A' SubClassOf 'etiological subtype' + 'Cystinuria type A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_157846 Label: Neuroferritinopathy - 'Neuroferritinopathy' SubClassOf 'disease' + 'Neuroferritinopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98967 Label: Schnyder corneal dystrophy - 'Schnyder corneal dystrophy' SubClassOf 'disease' + 'Schnyder corneal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93602 Label: Xanthinuria type II - 'Xanthinuria type II' SubClassOf 'etiological subtype' + 'Xanthinuria type II' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98968 Label: Central discoid corneal dystrophy - 'Central discoid corneal dystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93601 Label: Xanthinuria type I - 'Xanthinuria type I' SubClassOf 'etiological subtype' + 'Xanthinuria type I' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_93600 Label: Primary hyperoxaluria type 3 - 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98978 Label: Axenfeld anomaly - 'Axenfeld anomaly' SubClassOf 'Rieger anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98991 Label: Nuclear cataract + 'Nuclear cataract' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Nuclear cataract' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_1215 Label: Autosomal dominant optic atrophy plus syndrome - 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' + 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217046 Label: Autosomal recessive childhood-onset cortical cataract - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'disease' - 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'Early-onset non-syndromic cataract' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' + 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2274 Label: Ichthyosis - hepatosplenomegaly - cerebellar degeneration - 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' + 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2272 Label: Ichthyosis - oral and digital anomalies - 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' + 'Ichthyosis - oral and digital anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2278 Label: Ichthyosis - intellectual deficit - dwarfism - renal impairment - 'Ichthyosis - intellectual deficit - dwarfism - renal impairment' SubClassOf 'malformation syndrome' + 'Ichthyosis - intellectual deficit - dwarfism - renal impairment' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_210128 Label: Urocanic aciduria - 'Urocanic aciduria' SubClassOf 'disease' + 'Urocanic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_220489 Label: Rare hereditary hemochromatosis - 'Rare hereditary hemochromatosis' SubClassOf 'group of phenome' + 'Rare hereditary hemochromatosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_356123 Label: DnaJ (Hsp40) homolog, subfamily C, member 6 - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Levodopa-unresponsive juvenile parkinsonism' - 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' + 'DnaJ (Hsp40) homolog, subfamily C, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391411 Class: http://www.orpha.net/ORDO/Orphanet_2389 Label: Lewis-Pashayan syndrome - 'Lewis-Pashayan syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2386 Label: Leukoencephalopathy-palmoplantar keratoderma syndrome - 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93594 Label: Alpha-1-antichymotrypsin deficiency - 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antichymotrypsin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93598 Label: Primary hyperoxaluria type 1 - 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93599 Label: Primary hyperoxaluria type 2 - 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' + 'Primary hyperoxaluria type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93564 Label: Pediatric polyarteritis nodosa + 'Pediatric polyarteritis nodosa' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_93569 Label: Rhizomelic pseudopolyarthritis - 'Rhizomelic pseudopolyarthritis' SubClassOf 'clinical subtype' - 'Rhizomelic pseudopolyarthritis' SubClassOf 'part_of' some 'Giant cell arteritis' + 'Rhizomelic pseudopolyarthritis' SubClassOf 'disease' + 'Rhizomelic pseudopolyarthritis' SubClassOf 'part_of' some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_93568 Label: Juvenile polymyositis - 'Juvenile polymyositis' SubClassOf 'clinical subtype' + 'Juvenile polymyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2364 Label: Glycogen storage disease due to lactate dehydrogenase deficiency - 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93571 Label: Dense deposit disease - 'Dense deposit disease' SubClassOf 'histopathological subtype' + 'Dense deposit disease' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_308998 Label: Disorder of glyoxylate metabolism - 'Disorder of glyoxylate metabolism' SubClassOf 'group of phenome' + 'Disorder of glyoxylate metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2355 Label: Kumar-Levick syndrome - 'Kumar-Levick syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_308993 Label: Glycerol kinase deficiency - 'Glycerol kinase deficiency' SubClassOf 'group of phenome' + 'Glycerol kinase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_183678 Label: Hermansky-Pudlak syndrome with neutropenia - 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2353 Label: Schilbach-Rott syndrome - 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' + 'Schilbach-Rott syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2342 Label: Haim-Munk syndrome - 'Haim-Munk syndrome' SubClassOf 'disease' + 'Haim-Munk syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93559 Label: C3 deposition glomerulonephritis without proliferation - 'C3 deposition glomerulonephritis without proliferation' SubClassOf 'etiological subtype' + 'C3 deposition glomerulonephritis without proliferation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93562 Label: Familial renal amyloidosis due to fibrinogen A alpha-chain variant - 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'clinical subtype' + 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_2337 Label: Non-epidermolytic palmoplantar keratoderma - 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' + 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2338 Label: Isolated punctate palmoplantar keratoderma - 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Isolated punctate palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_90791 Label: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'clinical subtype' + 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90790 Label: Congenital lipoid adrenal hyperplasia due to STAR deficency - 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'clinical subtype' + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90793 Label: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'clinical subtype' + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90794 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'clinical subtype' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90795 Label: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'clinical subtype' + 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352641 Label: Autosomal recessive cerebellar ataxia with late-onset spasticity - 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75563 Label: X-linked sideroblastic anemia - 'X-linked sideroblastic anemia' SubClassOf 'disease' + 'X-linked sideroblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_252054 Label: Hemangioblastoma + 'Hemangioblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_2309 Label: Pachyonychia congenita - 'Pachyonychia congenita' SubClassOf 'disease' + 'Pachyonychia congenita' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352649 Label: Brain dopamine-serotonin vesicular transport disease - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Combined dystonia' - 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2311 Label: Autosomal recessive spondylocostal dysostosis - 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' + 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2305 Label: Isotretinoin syndrome - 'Isotretinoin syndrome' SubClassOf 'disease' + 'Isotretinoin syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3438 Label: Biliary tract malformation - renal failure - 'Biliary tract malformation - renal failure' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_206484 Label: Ovarian gonadoblastoma + 'Ovarian gonadoblastoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_141007 Label: Orofaciodigital syndrome type 9 + 'Orofaciodigital syndrome type 9' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_3426 Label: Double outlet right ventricle - 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Double outlet right ventricle' SubClassOf 'has_prevalence' some 'Unknown' + 'Double outlet right ventricle' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Double outlet right ventricle' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_3423 Label: Vasquez-Hurst-Sotos syndrome - 'Vasquez-Hurst-Sotos syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_280302 Label: Autoimmune pancreatitis type 1 - 'Autoimmune pancreatitis type 1' SubClassOf 'etiological subtype' + 'Autoimmune pancreatitis type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_252018 Label: Teratoma of the central nervous system - 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' - 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Teratoma' + 'Teratoma of the central nervous system' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1194 Label: Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency - 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' + 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1195 Label: Congenital atransferrinemia - 'Congenital atransferrinemia' SubClassOf 'disease' + 'Congenital atransferrinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233066 Label: microseminoprotein, beta- - 'microseminoprotein, beta-' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'microseminoprotein, beta-' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_1190 Label: Atelosteogenesis type I - 'Atelosteogenesis type I' SubClassOf 'disease' + 'Atelosteogenesis type I' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3402 Label: Transient tyrosinemia of the newborn - 'Transient tyrosinemia of the newborn' SubClassOf 'disease' + 'Transient tyrosinemia of the newborn' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_280315 Label: Autoimmune pancreatitis type 2 - 'Autoimmune pancreatitis type 2' SubClassOf 'etiological subtype' + 'Autoimmune pancreatitis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1187 Label: Lethal ataxia with deafness and optic atrophy - 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1186 Label: Infantile onset spinocerebellar ataxia - 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' + 'Infantile onset spinocerebellar ataxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3471 Label: Young syndrome - 'Young syndrome' SubClassOf 'disease' + 'Young syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_304648 Label: phosphatidylinositol glycan anchor biosynthesis, class O - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3464 Label: Woodhouse-Sakati syndrome - 'Woodhouse-Sakati syndrome' SubClassOf 'disease' + 'Woodhouse-Sakati syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3460 Label: Torg-Winchester syndrome - 'Torg-Winchester syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit' - 'Torg-Winchester syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit' - 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' + 'Torg-Winchester syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3467 Label: Hereditary xanthinuria - 'Hereditary xanthinuria' SubClassOf 'disease' + 'Hereditary xanthinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3451 Label: West syndrome + 'West syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_141077 Label: Epignathus - 'Epignathus' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Epignathus' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_95699 Label: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'clinical subtype' + 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123010 Label: LIM domain binding 3 - 'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tibial muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_3440 Label: Waardenburg syndrome + 'Waardenburg syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_3448 Label: Weaver-Williams syndrome - 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' + 'Weaver-Williams syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233032 Label: low density lipoprotein receptor-related protein 4 + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_1349 Label: Maternally-inherited cardiomyopathy and hearing loss + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_34515 Label: Autosomal recessive limb-girdle muscular dystrophy type 2I - 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1359 Label: Carney complex - 'Carney complex' SubClassOf 'disease' + 'Carney complex' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label: Familial primary hypomagnesemia - 'Familial primary hypomagnesemia' SubClassOf 'group of phenome' + 'Familial primary hypomagnesemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_180275 Label: Paget disease of the nipple + 'Paget disease of the nipple' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_1361 Label: Carnosinemia - 'Carnosinemia' SubClassOf 'disease' + 'Carnosinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1369 Label: Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy - 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' + 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254343 Label: Autosomal recessive spastic ataxia - optic atrophy - dysarthria - 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1366 Label: Autosomal recessive palmoplantar keratoderma and congenital alopecia - 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_180261 Label: Phyllode tumor + 'Phyllode tumor' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_34528 Label: Autosomal dominant primary hypomagnesemia with hypocalcuria - 'Autosomal dominant primary hypomagnesemia with hypocalcuria' SubClassOf 'disease' + 'Autosomal dominant primary hypomagnesemia with hypocalcuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label: Familial primary hypomagnesemia with normocalcuria and normocalcemia - 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial primary hypomagnesemia with normocalcuria and normocalcemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1376 Label: Congenital cataract - ichthyosis - 'Congenital cataract - ichthyosis' SubClassOf 'disease' + 'Congenital cataract - ichthyosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1389 Label: Cortical blindness - intellectual deficit - polydactyly - 'Cortical blindness - intellectual deficit - polydactyly' SubClassOf 'malformation syndrome' + 'Cortical blindness - intellectual deficit - polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98808 Label: Autosomal dominant dopa-responsive dystonia - 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_50944 Label: Sch�pf-Schulz-Passarge syndrome - 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_50942 Label: Keratosis palmoplantaris striata - 'Keratosis palmoplantaris striata' SubClassOf 'disease' + 'Keratosis palmoplantaris striata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168609 Label: Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure - 'Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' + 'Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_280379 Label: Erythropoietic uroporphyria associated with myeloid malignancy - 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' + 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122286 Label: G protein-coupled receptor kinase 1 + 'G protein-coupled receptor kinase 1' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_352728 Label: Disorder of melanin metabolism - 'Disorder of melanin metabolism' SubClassOf 'group of phenome' + 'Disorder of melanin metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352734 Label: Minimal pigment oculocutaneous albinism type 1 - 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' + 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_352731 Label: Oculocutaneous albinism type 1 - 'Oculocutaneous albinism type 1' SubClassOf 'disease' + 'Oculocutaneous albinism type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352718 Label: Progressive retinal dystrophy due to retinol transport defect - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' + 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98852 Label: Desquamative interstitial pneumonia - 'Desquamative interstitial pneumonia' SubClassOf 'etiological subtype' + 'Desquamative interstitial pneumonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352723 Label: Attenuated Ch�diak-Higashi syndrome - 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'clinical subtype' + 'Attenuated Ch�diak-Higashi syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122266 Label: G protein-coupled receptor 56 + 'G protein-coupled receptor 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_98818 Label: Landau-Kleffner syndrome + 'Landau-Kleffner syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Landau-Kleffner syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_98812 Label: Paroxysmal hypnogenic dyskinesia - 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'disease' - 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' - 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_352737 Label: Temperature-sensitive oculocutaneous albinism type 1 - 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' + 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_159517 Label: transmembrane protein 43 - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_352745 Label: Oculocutaneous albinism type 7 - 'Oculocutaneous albinism type 7' SubClassOf 'disease' + 'Oculocutaneous albinism type 7' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352740 Label: Ocular albinism with congenital sensorineural deafness - 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1301 Label: Bronchiectasis - oligospermia - 'Bronchiectasis - oligospermia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1300 Label: Autosomal dominant popliteal pterygium syndrome - 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_1305 Label: Feingold syndrome - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation' - 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' - 'Feingold syndrome' SubClassOf 'part_of' some 'Respiratory malformation' + 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic gastroduodenal malformation' + 'Feingold syndrome' SubClassOf 'part_of' some 'Syndromic esophageal malformation' + 'Feingold syndrome' SubClassOf 'part_of' some 'Genetic syndromic esophageal malformation' Class: http://www.orpha.net/ORDO/Orphanet_2394 Label: Pyruvate dehydrogenase E3 deficiency - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' - 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Metabolic myopathy' + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_98878 Label: Hemophilia A - 'Hemophilia A' SubClassOf 'Hemophilia' + 'Hemophilia A' SubClassOf 'part_of' some 'Hemophilia' Class: http://www.orpha.net/ORDO/Orphanet_98879 Label: Hemophilia B - 'Hemophilia B' SubClassOf 'Hemophilia' + 'Hemophilia B' SubClassOf 'part_of' some 'Hemophilia' Class: http://www.orpha.net/ORDO/Orphanet_98890 Label: Early-onset X-linked optic atrophy + 'Early-onset X-linked optic atrophy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Early-onset X-linked optic atrophy' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_1317 Label: CAMFAK syndrome - 'CAMFAK syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98894 Label: Congenital muscular dystrophy type 1D - 'Congenital muscular dystrophy type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_352709 Label: CLN13 disease - 'CLN13 disease' SubClassOf 'etiological subtype' + 'CLN13 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_98861 Label: Primary ciliary dyskinesia, Kartagener type - 'Primary ciliary dyskinesia, Kartagener type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1319 Label: Camptobrachydactyly - 'Camptobrachydactyly' SubClassOf 'malformation syndrome' + 'Camptobrachydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1336 Label: Hyperkeratosis-hyperpigmentation syndrome - 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' + 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159556 Label: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase + 'enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary Fanconi syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1333 Label: Familial pancreatic carcinoma - 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic carcinoma' - 'Familial pancreatic carcinoma' SubClassOf 'etiological subtype' + 'Familial pancreatic carcinoma' SubClassOf 'part_of' some 'Pancreatic tumor' + 'Familial pancreatic carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98873 Label: Congenital dyserythropoietic anemia type II - 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' + 'Congenital dyserythropoietic anemia type II' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98868 Label: Southeast Asian ovalocytosis + 'Southeast Asian ovalocytosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Southeast Asian ovalocytosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Southeast Asian ovalocytosis' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_363567 Label: Acute encephalopathy with inflammation-mediated status epilepticus - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'part_of' some 'Inflammatory and autoimmune disease with epilepsy' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' - 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'disease' + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'group of phenome' + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'Childhood-onset epilepsy syndrome' + 'Acute encephalopathy with inflammation-mediated status epilepticus' SubClassOf 'Inflammatory and autoimmune disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_2481 Label: Neurocutaneous melanocytosis + 'Neurocutaneous melanocytosis' SubClassOf 'part_of' some 'Rare nevus' Class: http://www.orpha.net/ORDO/Orphanet_363558 Label: New-onset refractory status epilepticus - 'New-onset refractory status epilepticus' SubClassOf 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_2470 Label: Matthew-Wood syndrome - 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' + 'Matthew-Wood syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_363549 Label: Acute encephalopathy with biphasic seizures and late reduced diffusion - 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Acute encephalopathy with biphasic seizures and late reduced diffusion' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_33001 Label: Lymphedema - distichiasis - 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' + 'Lymphedema - distichiasis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_328924 Label: sodium channel, voltage-gated, type XI, alpha subunit + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391392 + 'sodium channel, voltage-gated, type XI, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391397 Class: http://www.orpha.net/ORDO/Orphanet_160128 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 4 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 4' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_284408 Label: Glycerol kinase deficiency, infantile form - 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2443 Label: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_284411 Label: Glycerol kinase deficiency, juvenile form - 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284414 Label: Glycerol kinase deficiency, adult form - 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' + 'Glycerol kinase deficiency, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284417 Label: Phosphoserine aminotransferase deficiency - 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' + 'Phosphoserine aminotransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2435 Label: Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency - 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency' SubClassOf 'disease' + 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2466 Label: MASA syndrome - 'MASA syndrome' SubClassOf 'clinical subtype' + 'MASA syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2463 Label: Marfanoid habitus - intellectual deficit, autosomal recessive - 'Marfanoid habitus - intellectual deficit, autosomal recessive' SubClassOf 'malformation syndrome' + 'Marfanoid habitus - intellectual deficit, autosomal recessive' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93672 Label: Juvenile dermatomyositis - 'Juvenile dermatomyositis' SubClassOf 'clinical subtype' + 'Juvenile dermatomyositis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2464 Label: Marfanoid syndrome, De Silva type - 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' + 'Marfanoid syndrome, De Silva type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2453 Label: Malpuech syndrome - 'Malpuech syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77 Label: Aniridia - 'Aniridia' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Aniridia' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Aniridia' SubClassOf 'has_inheritance' some 'sporadic' + 'Aniridia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_71 Label: Chylomicron retention disease - 'Chylomicron retention disease' SubClassOf 'disease' + 'Chylomicron retention disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284435 Label: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_54 Label: X-linked recessive ocular albinism - 'X-linked recessive ocular albinism' SubClassOf 'disease' + 'X-linked recessive ocular albinism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_55 Label: Oculocutaneous albinism - 'Oculocutaneous albinism' SubClassOf 'group of phenome' + 'Oculocutaneous albinism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2419 Label: Lymphedema - ptosis - 'Lymphedema - ptosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_284426 Label: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_59 Label: Allan-Herndon-Dudley syndrome - 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' - 'Allan-Herndon-Dudley syndrome' SubClassOf 'disease' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'clinical subtype' + 'Allan-Herndon-Dudley syndrome' SubClassOf 'part_of' some 'Pelizaeus-Merzbacher-like disease' Class: http://www.orpha.net/ORDO/Orphanet_56 Label: Alkaptonuria - 'Alkaptonuria' SubClassOf 'disease' + 'Alkaptonuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_57 Label: Glycogen storage disease due to aldolase A deficiency - 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324737 Label: SRD5A3-CDG - 'SRD5A3-CDG' SubClassOf 'disease' + 'SRD5A3-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_60 Label: Alpha-1-antitrypsin deficiency - 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' + 'Alpha-1-antitrypsin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_61 Label: Alpha-mannosidosis - 'Alpha-mannosidosis' SubClassOf 'disease' + 'Alpha-mannosidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_225332 Label: RAB39B, member RAS oncogene family + 'RAB39B, member RAS oncogene family' SubClassOf 'Role in the phenotype of' some 'Distal Xq28 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_38 Label: Acrokeratoelastoidosis of Costa - 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' + 'Acrokeratoelastoidosis of Costa' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_37 Label: Acrodermatitis enteropathica, zinc deficiency type - 'Acrodermatitis enteropathica, zinc deficiency type' SubClassOf 'disease' + 'Acrodermatitis enteropathica, zinc deficiency type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35 Label: Propionic acidemia - 'Propionic acidemia' SubClassOf 'disease' - 'Propionic acidemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Propionic acidemia' SubClassOf 'disease' + 'Propionic acidemia' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_33 Label: Isovaleric acidemia - 'Isovaleric acidemia' SubClassOf 'disease' + 'Isovaleric acidemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_32 Label: Glutathione synthetase deficiency - 'Glutathione synthetase deficiency' SubClassOf 'disease' + 'Glutathione synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_31 Label: Oxoglutaricaciduria - 'Oxoglutaricaciduria' SubClassOf 'disease' + 'Oxoglutaricaciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_30 Label: Hereditary orotic aciduria - 'Hereditary orotic aciduria' SubClassOf 'disease' + 'Hereditary orotic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_46 Label: Adenylosuccinate lyase deficiency - 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' + 'Adenylosuccinate lyase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_45 Label: Adenosine monophosphate deaminase deficiency - 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' + 'Adenosine monophosphate deaminase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_42 Label: Medium chain acyl-CoA dehydrogenase deficiency - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_44 Label: Neonatal adrenoleukodystrophy - 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' + 'Neonatal adrenoleukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_43 Label: X-linked adrenoleukodystrophy - 'X-linked adrenoleukodystrophy' SubClassOf 'disease' + 'X-linked adrenoleukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_14 Label: Abetalipoproteinemia - 'Abetalipoproteinemia' SubClassOf 'disease' + 'Abetalipoproteinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_13 Label: 6-pyruvoyl-tetrahydropterin synthase deficiency - '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' + '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_19 Label: 2-hydroxyglutaric aciduria - '2-hydroxyglutaric aciduria' SubClassOf 'group of phenome' + '2-hydroxyglutaric aciduria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_17 Label: Fatal infantile lactic acidosis with methylmalonic aciduria - 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' + 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_24 Label: Fumaric aciduria - 'Fumaric aciduria' SubClassOf 'disease' + 'Fumaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_23 Label: Argininosuccinic aciduria - 'Argininosuccinic aciduria' SubClassOf 'disease' + 'Argininosuccinic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26 Label: Methylmalonic acidemia with homocystinuria - 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_25 Label: Glutaryl-CoA dehydrogenase deficiency - 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_28 Label: Vitamin B12-responsive methylmalonic acidemia - 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_27 Label: Vitamin B12-unresponsive methylmalonic acidemia - 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' + 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_29 Label: Mevalonic aciduria - 'Mevalonic aciduria' SubClassOf 'disease' + 'Mevalonic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_20 Label: 3-hydroxy-3-methylglutaric aciduria - '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' + '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_22 Label: 4-hydroxybutyric aciduria - '4-hydroxybutyric aciduria' SubClassOf 'disease' + '4-hydroxybutyric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306547 Label: Porencephaly-microcephaly-bilateral congenital cataract syndrome - 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' + 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306542 Label: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'malformation syndrome' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_91129 Label: Anophthalmia - heart and pulmonary anomalies - intellectual deficit - 'Anophthalmia - heart and pulmonary anomalies - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_91131 Label: DK1-CDG - 'DK1-CDG' SubClassOf 'disease' + 'DK1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91130 Label: Cardiomyopathy - hypotonia - lactic acidosis - 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' + 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281139 Label: Annular epidermolytic ichthyosis - 'Annular epidermolytic ichthyosis' SubClassOf 'clinical subtype' + 'Annular epidermolytic ichthyosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306558 Label: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' + 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306553 Label: Myospherulosis - 'Myospherulosis' SubClassOf 'disease' + 'Myospherulosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91137 Label: Immunotactoid or fibrillary glomerulopathy - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'disease' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'group of phenome' + 'Immunotactoid or fibrillary glomerulopathy' SubClassOf 'Secondary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_306550 Label: FADD-related immunodeficiency - 'FADD-related immunodeficiency' SubClassOf 'disease' + 'FADD-related immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306522 Label: Familial primary hypomagnesemia with normocalcuria - 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of phenome' + 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306527 Label: Isolated hereditary congenital facial paralysis - 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anamoly' + 'Isolated hereditary congenital facial paralysis' SubClassOf 'morphological anamoly' Class: http://www.orpha.net/ORDO/Orphanet_90045 Label: Hereditary folate malabsorption - 'Hereditary folate malabsorption' SubClassOf 'disease' + 'Hereditary folate malabsorption' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306530 Label: Congenital hereditary facial paralysis with variable hearing loss - 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anamoly' + 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'morphological anamoly' Class: http://www.orpha.net/ORDO/Orphanet_306539 Label: Hereditary acrokeratotic poikiloderma of Kindler-Weary - 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' + 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231256 Label: Beta-thalassemia - trichothiodystrophy - 'Beta-thalassemia - trichothiodystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_51208 Label: Formiminoglutamic aciduria - 'Formiminoglutamic aciduria' SubClassOf 'disease' + 'Formiminoglutamic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306588 Label: Autosomal dominant Opitz G/BBB syndrome - 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_90065 Label: Acquired aneurysmal subarachnoid hemorrhage - 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'disease' + 'Acquired aneurysmal subarachnoid hemorrhage' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_331952 Label: post-GPI attachment to proteins 2 - 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' + 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_90061 Label: Non-infectious posterior uveitis - 'Non-infectious posterior uveitis' SubClassOf 'group of phenome' + 'Non-infectious posterior uveitis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306597 Label: X-linked Opitz G/BBB syndrome - 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' + 'X-linked Opitz G/BBB syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_90068 Label: Cocaine poisoning - 'Cocaine poisoning' SubClassOf 'disease' + 'Cocaine poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90069 Label: Systemic monochloroacetate poisoning - 'Systemic monochloroacetate poisoning' SubClassOf 'disease' + 'Systemic monochloroacetate poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90070 Label: Methotrexate poisoning - 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Methotrexate poisoning' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306561 Label: Autosomal dominant childhood-onset cortical cataract - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'disease' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'Early-onset non-syndromic cataract' - 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'clinical subtype' + 'Autosomal dominant childhood-onset cortical cataract' SubClassOf 'part_of' some 'Early-onset non-syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_156159 Label: Isolated dystonia + 'Isolated dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_391799 Class: http://www.orpha.net/ORDO/Orphanet_119502 Label: adenosine deaminase, RNA-specific + 'adenosine deaminase, RNA-specific' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial infantile bilateral striatal necrosis' Class: http://www.orpha.net/ORDO/Orphanet_306577 Label: Sodium channelopathy-related small fiber neuropathy - 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254892 Label: Autosomal dominant progressive external ophthalmoplegia - 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254898 Label: Deafness - encephaloneuropathy - obesity - valvulopathy - 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' + 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289825 Label: Late-onset primary lymphedema - 'Late-onset primary lymphedema' SubClassOf 'group of phenome' + 'Late-onset primary lymphedema' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_34217 Label: Naxos disease - 'Naxos disease' SubClassOf 'disease' + 'Naxos disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1044 Label: Anemia due to adenosine triphosphatase deficiency - 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' + 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289832 Label: Disorder of lysine and hydroxylysine metabolism - 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of phenome' + 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_289829 Label: Disorder of tryptophan metabolism - 'Disorder of tryptophan metabolism' SubClassOf 'group of phenome' + 'Disorder of tryptophan metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1032 Label: Hyperdibasic aminoaciduria type 1 - 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' + 'Hyperdibasic aminoaciduria type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254871 Label: Mitochondrial DNA depletion syndrome, hepatocerebral form - 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of phenome' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_254875 Label: Mitochondrial DNA depletion syndrome, myopathic form - 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86918 Label: Diffuse palmoplantar keratoderma-acrocyanosis syndrome - 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' + 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86919 Label: Keratosis palmaris et plantaris - clinodactyly - 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' + 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254881 Label: Spinocerebellar ataxia with epilepsy - 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1027 Label: Autosomal recessive amelia - 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' + 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254886 Label: Autosomal recessive progressive external ophthalmoplegia - 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' + 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118135 Label: pancreas specific transcription factor, 1a + 'pancreas specific transcription factor, 1a' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial pancreatic agenesis' Class: http://www.orpha.net/ORDO/Orphanet_86923 Label: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type - 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' + 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1019 Label: Epstein syndrome - 'Epstein syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1011 Label: Alopecia - hypogonadism - extrapyramidal disorder - 'Alopecia - hypogonadism - extrapyramidal disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1010 Label: Autosomal dominant palmoplantar keratoderma and congenital alopecia - 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' + 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251663 Label: Anaplastic oligoastrocytoma + 'Anaplastic oligoastrocytoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_1003 Label: Scalp defects - postaxial polydactyly - 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' + 'Scalp defects - postaxial polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293955 Label: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1000 Label: Ocular albinism with late-onset sensorineural deafness - 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' + 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251671 Label: Angiocentric glioma - 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Angiocentric glioma' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_251674 Label: Chordoid glioma + 'Chordoid glioma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_86908 Label: Idiopathic hemiconvulsion-hemiplegia syndrome - 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_85212 Label: Fetal Gaucher disease - 'Fetal Gaucher disease' SubClassOf 'clinical subtype' + 'Fetal Gaucher disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251643 Label: Myxopapillary ependymoma - 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Myxopapillary ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_251639 Label: Subependymoma + 'Subependymoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_251636 Label: Ependymoma - 'Ependymoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ependymoma' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_251646 Label: Anaplastic ependymoma + 'Anaplastic ependymoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_163985 Label: Hyperekplexia - epilepsy - 'Hyperekplexia - epilepsy' SubClassOf 'clinical subtype' + 'Hyperekplexia - epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254818 Label: Ataxia neuropathy spectrum - 'Ataxia neuropathy spectrum' SubClassOf 'group of phenome' + 'Ataxia neuropathy spectrum' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_93399 Label: Juvenile sialidosis type 2 - 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' + 'Juvenile sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99134 Label: Intermediate stomatocytosis syndrome - 'Intermediate stomatocytosis syndrome' SubClassOf 'disease' - 'Intermediate stomatocytosis syndrome' SubClassOf 'part_of' some 'Stomatocytosis' + 'Intermediate stomatocytosis syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99138 Label: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' + 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254822 Label: Mitochondrial oxidative phosphorylation disorder with no known mechanism - 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_254803 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254807 Label: Multiple mitochondrial DNA deletion syndrome - 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of phenome' + 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309854 Label: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' + 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309851 Label: Disorder of manganese transport - 'Disorder of manganese transport' SubClassOf 'group of phenome' + 'Disorder of manganese transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2502 Label: Metaphyseal dysostosis - intellectual deficit - conductive deafness - 'Metaphyseal dysostosis - intellectual deficit - conductive deafness' SubClassOf 'malformation syndrome' + 'Metaphyseal dysostosis - intellectual deficit - conductive deafness' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99141 Label: Posterior choanal atresia - lymphedema syndrome - 'Posterior choanal atresia - lymphedema syndrome' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Posterior choanal atresia - lymphedema syndrome' SubClassOf 'malformation syndrome' + 'Posterior choanal atresia - lymphedema syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309842 Label: Disorder of iron metabolism and transport - 'Disorder of iron metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of iron metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309845 Label: Disorder of zinc metabolism - 'Disorder of zinc metabolism' SubClassOf 'group of phenome' + 'Disorder of zinc metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309848 Label: Disorder of magnesium transport - 'Disorder of magnesium transport' SubClassOf 'group of phenome' + 'Disorder of magnesium transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_289891 Label: Hypermethioninemia due to glycine N-methyltransferase deficiency - 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' + 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289899 Label: Organic aciduria - 'Organic aciduria' SubClassOf 'group of phenome' + 'Organic aciduria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309833 Label: Disorder of other vitamins and cofactors metabolism and transport - 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309830 Label: Disorder of catecholamine synthesis - 'Disorder of catecholamine synthesis' SubClassOf 'group of phenome' + 'Disorder of catecholamine synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309836 Label: Disorder of mineral absorption and transport - 'Disorder of mineral absorption and transport' SubClassOf 'group of phenome' + 'Disorder of mineral absorption and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309839 Label: Disorder of copper metabolism - 'Disorder of copper metabolism' SubClassOf 'group of phenome' + 'Disorder of copper metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309827 Label: Disorder of vitamin and non-protein cofactor absorption and transport� - 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of phenome' + 'Disorder of vitamin and non-protein cofactor absorption and transport�' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_120819 Label: cysteine-rich with EGF-like domains 1 - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal' - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - left heart obstruction' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Complete atrioventricular canal - Fallot tetralogy' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_216866 Label: Classic pantothenate kinase-associated neurodegeneration - 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309824 Label: Disorder of metabolite absorption and transport - 'Disorder of metabolite absorption and transport' SubClassOf 'group of phenome' + 'Disorder of metabolite absorption and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_300525 Label: Pseudohypoaldosteronism type 2D - 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2D' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254857 Label: Lethal infantile mitochondrial myopathy - 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' + 'Lethal infantile mitochondrial myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254864 Label: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85281 Label: Intellectual deficit, X-linked, Lubs type - 'Intellectual deficit, X-linked, Lubs type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_300530 Label: Pseudohypoaldosteronism type 2E - 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2E' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_309819 Label: Disorder of pterin metabolism - 'Disorder of pterin metabolism' SubClassOf 'group of phenome' + 'Disorder of pterin metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309816 Label: Disorder of bilirubin metabolism and excretion - 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of phenome' + 'Disorder of bilirubin metabolism and excretion' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_254846 Label: Isolated oxidative phosphorylation complex disorder - 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of phenome' + 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309813 Label: Disorder of porphyrin and haem metabolism - 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of phenome' + 'Disorder of porphyrin and haem metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_300536 Label: DDOST-CDG - 'DDOST-CDG' SubClassOf 'disease' + 'DDOST-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309810 Label: Disorder of peroxisomal alpha-, beta- and omega-oxidation - 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of phenome' + 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_289869 Label: Disorder of ornithine metabolism - 'Disorder of ornithine metabolism' SubClassOf 'group of phenome' + 'Disorder of ornithine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_289866 Label: Disorder of proline metabolism - 'Disorder of proline metabolism' SubClassOf 'group of phenome' + 'Disorder of proline metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_123688 Label: nibrin - 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'nibrin' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_254851 Label: Maternally-inherited mitochondrial dystonia - 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' + 'Maternally-inherited mitochondrial dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254854 Label: Pure mitochondrial myopathy - 'Pure mitochondrial myopathy' SubClassOf 'disease' + 'Pure mitochondrial myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289863 Label: Atypical glycine encephalopathy - 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' + 'Atypical glycine encephalopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_289860 Label: Infantile glycine encephalopathy - 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' + 'Infantile glycine encephalopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_289849 Label: Glutathione synthetase deficiency without 5-oxoprolinuria - 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2506 Label: Michels syndrome - 'Michels syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_254837 Label: Unspecified mitochondrial disorder - 'Unspecified mitochondrial disorder' SubClassOf 'group of phenome' + 'Unspecified mitochondrial disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309803 Label: Rhizomelic chondrodysplasia punctata type 3 - 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' + 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_254843 Label: Exercise intolerance with lactic acidosis - 'Exercise intolerance with lactic acidosis' SubClassOf 'group of phenome' + 'Exercise intolerance with lactic acidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2510 Label: Micro syndrome - 'Micro syndrome' SubClassOf 'malformation syndrome' + 'Micro syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289857 Label: Neonatal glycine encephalopathy - 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' + 'Neonatal glycine encephalopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_31043 Label: Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'disease' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'disease' + 'Familial hypomagnesemia - hypercalciuria - nephrocalcinosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_189330 Label: ALX homeobox 3 - 'ALX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontonasal dysplasia' + 'ALX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391474 Class: http://www.orpha.net/ORDO/Orphanet_216873 Label: Atypical pantothenate kinase-associated neurodegeneration - 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' + 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_254827 Label: Mitochondrial membrane transport disorder - 'Mitochondrial membrane transport disorder' SubClassOf 'group of phenome' + 'Mitochondrial membrane transport disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_85295 Label: X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome - 'X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual deficit' - 'X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome' SubClassOf 'disease' + 'X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome' SubClassOf 'clinical subtype' + 'X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391417 Class: http://www.orpha.net/ORDO/Orphanet_289841 Label: Disorder of glutamine metabolism - 'Disorder of glutamine metabolism' SubClassOf 'group of phenome' + 'Disorder of glutamine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_254834 Label: Mitochondrial protein import disorder - 'Mitochondrial protein import disorder' SubClassOf 'group of phenome' + 'Mitochondrial protein import disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_289846 Label: Glutathione synthetase deficiency with 5-oxoprolinuria - 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' + 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label: Microcephaly - lymphedema - chorioretinopathy - 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254830 Label: Mitochondrial substrate carrier disorder - 'Mitochondrial substrate carrier disorder' SubClassOf 'group of phenome' + 'Mitochondrial substrate carrier disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2575 Label: Cystic fibrosis - gastritis - megaloblastic anemia - 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' + 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93317 Label: Spondylometaphyseal dysplasia, Sedaghatian type - 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'disease' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'malformation syndrome' + 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_93313 Label: Multiple epiphyseal dysplasia, unclassified type - 'Multiple epiphyseal dysplasia, unclassified type' SubClassOf 'disease' - 'Multiple epiphyseal dysplasia, unclassified type' SubClassOf 'part_of' some 'Multiple epiphyseal dysplasia' + 'Multiple epiphyseal dysplasia, unclassified type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93304 Label: Autosomal dominant brachyolmia - 'Autosomal dominant brachyolmia' SubClassOf 'clinical subtype' + 'Autosomal dominant brachyolmia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93303 Label: Brachyolmia type 1, Toledo type - 'Brachyolmia type 1, Toledo type' SubClassOf 'clinical subtype' + 'Brachyolmia type 1, Toledo type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93302 Label: Brachyolmia, Maroteaux type - 'Brachyolmia, Maroteaux type' SubClassOf 'clinical subtype' + 'Brachyolmia, Maroteaux type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93301 Label: Brachyolmia type 1, Hobaek type - 'Brachyolmia type 1, Hobaek type' SubClassOf 'clinical subtype' + 'Brachyolmia type 1, Hobaek type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_75790 Label: Pollitt syndrome - 'Pollitt syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_308712 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_220295 Label: Xeroderma pigmentosum/Cockayne syndrome complex - 'Xeroderma pigmentosum/Cockayne syndrome complex' SubClassOf 'clinical subtype' + 'Xeroderma pigmentosum/Cockayne syndrome complex' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75789 Label: SIBIDS syndrome - 'SIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2565 Label: Mononen-Karnes-Senac syndrome - 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' + 'Mononen-Karnes-Senac syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2564 Label: Tetramelic monodactyly - 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' + 'Tetramelic monodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2569 Label: Moore-Federman syndrome - 'Moore-Federman syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_181437 Label: Rare syndromic dyslipidemia - 'Rare syndromic dyslipidemia' SubClassOf 'group of phenome' + 'Rare syndromic dyslipidemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_93359 Label: Spondyloepimetaphyseal dysplasia with joint laxity - 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' + 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306519 Label: Familial primary hypomagnesemia with hypocalcuria - 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of phenome' + 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306516 Label: Familial primary hypomagnesemia with hypercalcuria - 'Familial primary hypomagnesemia with hypercalcuria' SubClassOf 'group of phenome' + 'Familial primary hypomagnesemia with hypercalcuria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306511 Label: Autosomal recessive spastic paraplegia type 48 - 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123600 Label: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome' - 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Feingold syndrome' + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391641 + 'v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog' SubClassOf 'Role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_391641 Class: http://www.orpha.net/ORDO/Orphanet_291703 Label: proline-rich transmembrane protein 2 + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal exertion-induced dyskinesia' + 'proline-rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_181422 Label: Rare hyperlipidemia - 'Rare hyperlipidemia' SubClassOf 'group of phenome' + 'Rare hyperlipidemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_181425 Label: Major hypertriglyceridemia - 'Major hypertriglyceridemia' SubClassOf 'group of phenome' + 'Major hypertriglyceridemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_181428 Label: Hyperalphalipoproteinemia - 'Hyperalphalipoproteinemia' SubClassOf 'group of phenome' + 'Hyperalphalipoproteinemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306507 Label: LAMB-2-related infantile-onset nephrotic syndrome - 'LAMB-2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' + 'LAMB-2-related infantile-onset nephrotic syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_181431 Label: Rare hypolipidemia - 'Rare hypolipidemia' SubClassOf 'group of phenome' + 'Rare hypolipidemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306504 Label: Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome - 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' + 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2598 Label: Mitochondrial myopathy and sideroblastic anemia - 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' + 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label: catenin (cadherin-associated protein), beta 1, 88kDa + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Craniopharyngioma' Class: http://www.orpha.net/ORDO/Orphanet_2596 Label: Myopathy and diabetes mellitus - 'Myopathy and diabetes mellitus' SubClassOf 'disease' + 'Myopathy and diabetes mellitus' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123621 Label: myosin, heavy chain 7, cardiac muscle, beta - 'myosin, heavy chain 7, cardiac muscle, beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' Class: http://www.orpha.net/ORDO/Orphanet_306648 Label: Non-infectious anterior uveitis - 'Non-infectious anterior uveitis' SubClassOf 'group of phenome' + 'Non-infectious anterior uveitis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_325004 Label: CANDLE syndrome + 'CANDLE syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'CANDLE syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'CANDLE syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label: CLN7 disease - 'CLN7 disease' SubClassOf 'etiological subtype' + 'CLN7 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_306640 Label: Rare intoxication due to medical products - 'Rare intoxication due to medical products' SubClassOf 'group of phenome' + 'Rare intoxication due to medical products' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label: CLN6 disease - 'CLN6 disease' SubClassOf 'etiological subtype' + 'CLN6 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label: CLN5 disease - 'CLN5 disease' SubClassOf 'etiological subtype' + 'CLN5 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228354 Label: CLN8 disease - 'CLN8 disease' SubClassOf 'etiological subtype' + 'CLN8 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228357 Label: CLN9 disease - 'CLN9 disease' SubClassOf 'etiological subtype' + 'CLN9 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_306658 Label: Normocalcemic tumoral calcinosis - 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' + 'Normocalcemic tumoral calcinosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_75858 Label: MORM syndrome + 'MORM syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_306669 Label: Hemiparkinsonism-hemiatrophy syndrome - 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' + 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_356961 Label: SLC35A2-CDG - 'SLC35A2-CDG' SubClassOf 'disease' + 'SLC35A2-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306666 Label: Rare parkinsonian syndrome due to neurodegenerative disease - 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of phenome' + 'Rare parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306661 Label: Hypercalcemic tumoral calcinosis - 'Hypercalcemic tumoral calcinosis' SubClassOf 'clinical subtype' + 'Hypercalcemic tumoral calcinosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_251503 Label: phosphatidylinositol glycan anchor biosynthesis, class V - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual deficiency syndrome' Class: http://www.orpha.net/ORDO/Orphanet_356978 Label: D,L-2-hydroxyglutaric aciduria - 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'clinical subtype' + 'D,L-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306679 Label: Rare parkinsonian syndrome due to intoxication - 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of phenome' + 'Rare parkinsonian syndrome due to intoxication' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_231154 Label: Combined immunodeficiency T+ B+ due to partial RAG1 deficiency - 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'etiological subtype' + 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306674 Label: Kufor-Rakeb syndrome - 'Kufor-Rakeb syndrome' SubClassOf 'disease' + 'Kufor-Rakeb syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_156005 Label: Primary glaucoma - 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' - 'Primary glaucoma' SubClassOf 'group of phenome' + 'Primary glaucoma' SubClassOf 'malformation syndrome' + 'Primary glaucoma' SubClassOf 'part_of' some 'Hereditary glaucoma' Class: http://www.orpha.net/ORDO/Orphanet_363727 Label: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia - 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'clinical subtype' + 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_281201 Label: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' + 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306686 Label: Carbon monoxide-induced parkinsonism - 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' + 'Carbon monoxide-induced parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306682 Label: Manganese poisoning - 'Manganese poisoning' SubClassOf 'disease' + 'Manganese poisoning' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306695 Label: Miscellaneous movement disorder due to neurodegenerative disease - 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of phenome' + 'Miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_100049 Label: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' - 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'part_of' some 'Genetic interstitial lung disease' - 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'etiological subtype' + 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'Genetic interstitial lung disease' + 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_228390 Label: Frontonasal dysplasia with alopecia and genital anomaly - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Cranial malformation' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Genetic cranial malformation' - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_306692 Label: Cyanide-induced parkinsonism - 'Cyanide-induced parkinsonism' SubClassOf 'disease' + 'Cyanide-induced parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100073 Label: Neurogenic thoracic outlet syndrome - 'Neurogenic thoracic outlet syndrome' SubClassOf 'disease' - 'Neurogenic thoracic outlet syndrome' SubClassOf 'Thoracic outlet syndrome' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'clinical subtype' + 'Neurogenic thoracic outlet syndrome' SubClassOf 'part_of' some 'Thoracic outlet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281234 Label: Congenital ichthyosis with trichothiodystrophy - 'Congenital ichthyosis with trichothiodystrophy' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' - 'Congenital ichthyosis with trichothiodystrophy' SubClassOf 'group of phenome' + 'Congenital ichthyosis with trichothiodystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77292 Label: Niemann-Pick disease type A - 'Niemann-Pick disease type A' SubClassOf 'disease' + 'Niemann-Pick disease type A' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77293 Label: Niemann-Pick disease type B - 'Niemann-Pick disease type B' SubClassOf 'disease' + 'Niemann-Pick disease type B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_86872 Label: T-cell large granular lymphocyte leukemia - 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' + 'T-cell large granular lymphocyte leukemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1159 Label: Progressive pseudorheumatoid arthropathy of childhood - 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' + 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293864 Label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome - 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' + 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_141115 Label: Nasal ganglioglioma - 'Nasal ganglioglioma' SubClassOf 'part_of' some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141107 Label: Nasopharyngeal teratoma - 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Nasopharyngeal teratoma' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor' Class: http://www.orpha.net/ORDO/Orphanet_307773 Label: Autosomal dominant diffuse mutilating palmoplantar keratoderma - 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_314029 Label: High bone mass osteogenesis imperfecta - 'High bone mass osteogenesis imperfecta' SubClassOf 'clinical subtype' + 'High bone mass osteogenesis imperfecta' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1149 Label: Arthrogryposis-like syndrome - 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' + 'Arthrogryposis-like syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329336 Label: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' + 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_165991 Label: Exercise-induced hyperinsulinism - 'Exercise-induced hyperinsulinism' SubClassOf 'disease' + 'Exercise-induced hyperinsulinism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1171 Label: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss - 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_86812 Label: Autosomal recessive limb-girdle muscular dystrophy type 2K - 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1168 Label: Ataxia - oculomotor apraxia type 1 - 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' + 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314051 Label: Leukoencephalopathy - thalamus and brainstem anomalies - high lactate - 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' + 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329314 Label: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251523 Label: Recurrent infections - inflammatory syndrome due to zinc metabolism disorder - 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' + 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1112 Label: Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis - 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329308 Label: Fatty acid hydroxylase-associated neurodegeneration - 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' + 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329303 Label: PLA2G6-associated neurodegeneration - 'PLA2G6-associated neurodegeneration' SubClassOf 'group of phenome' + 'PLA2G6-associated neurodegeneration' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1102 Label: Anophthalmia - hypothalamo-pituitary insufficiency - 'Anophthalmia - hypothalamo-pituitary insufficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_330050 Label: Lethal encephalopathy due to mitochondrial and peroxisomal fission defect - 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' + 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_330054 Label: Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay - 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' + 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293843 Label: Craniofacial-ulnar-renal syndrome - 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' + 'Craniofacial-ulnar-renal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_293838 Label: Fatal infantile encephalopathy-pulmonary hypertension syndrome - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'disease' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1122 Label: Ulnar hypoplasia - split foot - 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' + 'Ulnar hypoplasia - split foot' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1123 Label: Caudal appendage - deafness - 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' + 'Caudal appendage - deafness' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307766 Label: Curly hair-acral keratoderma-caries syndrome - 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' + 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254913 Label: Isolated ATP synthase deficiency - 'Isolated ATP synthase deficiency' SubClassOf 'disease' + 'Isolated ATP synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254920 Label: Combined oxidative phosphorylation defect type 2 - 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_284264 Label: Immunoglobulin G4-related sclerosing disease - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'disease' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'group of phenome' + 'Immunoglobulin G4-related sclerosing disease' SubClassOf 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label: Isolated cytochrome C oxidase deficiency - 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' + 'Isolated cytochrome C oxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254902 Label: Renal tubulopathy - encephalopathy - liver failure - 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' + 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2609 Label: Isolated NADH-CoQ reductase deficiency - 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' + 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2615 Label: Nakajo-Nishimura syndrome - 'Nakajo-Nishimura syndrome' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Nakajo-Nishimura syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Nakajo-Nishimura syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_123590 Label: MAX interactor 1, dimerization protein - 'MAX interactor 1, dimerization protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' - 'MAX interactor 1, dimerization protein' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_254925 Label: Combined oxidative phosphorylation defect type 4 - 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2616 Label: 3M syndrome - '3M syndrome' SubClassOf 'malformation syndrome' - '3M syndrome' SubClassOf 'has_prevalence' some 'Unknown' + '3M syndrome' SubClassOf 'malformation syndrome' + '3M syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_307711 Label: Disease with diffuse palmoplantar keratoderma as a major feature - 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_85112 Label: Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma - 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' + 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254930 Label: Combined oxidative phosphorylation defect type 7 - 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 7' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1064 Label: Aniridia - renal agenesis - psychomotor retardation - 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' + 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1060 Label: Angiomatosis systemic cystic - Seip syndrome - 'Angiomatosis systemic cystic - Seip syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2637 Label: Microcephalic osteodysplastic primordial dwarfism type 2 + 'Microcephalic osteodysplastic primordial dwarfism type 2' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_1071 Label: Ankyloblepharon - ectodermal defects - cleft lip/palate - 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2640 Label: Short limb-dwarf lethal, McAlister-Crane type - 'Short limb-dwarf lethal, McAlister-Crane type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_118239 Label: retinoblastoma 1 + 'retinoblastoma 1' SubClassOf 'Role in the phenotype of' some 'Monosomy 13q14' Class: http://www.orpha.net/ORDO/Orphanet_2654 Label: Syndesmodysplasic dwarfism - 'Syndesmodysplasic dwarfism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_85166 Label: Platyspondylic dysplasia, Torrance type - 'Platyspondylic dysplasia, Torrance type' SubClassOf 'disease' + 'Platyspondylic dysplasia, Torrance type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120949 Label: cytochrome P450, family 11, subfamily B, polypeptide 1 - 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperaldosteronism type 1' + 'cytochrome P450, family 11, subfamily B, polypeptide 1' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type 1' Class: http://www.orpha.net/ORDO/Orphanet_2661 Label: Dwarfism - tall vertebrae - 'Dwarfism - tall vertebrae' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_56965 Label: Progressive bulbar paralysis of childhood - 'Progressive bulbar paralysis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_120955 Label: cytochrome P450, family 11, subfamily B, polypeptide 2 - 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperaldosteronism type 1' + 'cytochrome P450, family 11, subfamily B, polypeptide 2' SubClassOf 'Part of a fusion gene in' some 'Familial hyperaldosteronism type 1' Class: http://www.orpha.net/ORDO/Orphanet_2687 Label: Neutropenia - hyperlymphocytosis with large granular lymphocytes - 'Neutropenia - hyperlymphocytosis with large granular lymphocytes' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2686 Label: Cyclic neutropenia - 'Cyclic neutropenia' SubClassOf 'disease' + 'Cyclic neutropenia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2689 Label: Intermittent neutropenia - 'Intermittent neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93400 Label: Congenital sialidosis type 2 - 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' - 'Congenital sialidosis type 2' SubClassOf 'part_of' some 'Metabolic disease with cataract' + 'Congenital sialidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_51188 Label: Ethylmalonic encephalopathy - 'Ethylmalonic encephalopathy' SubClassOf 'disease' + 'Ethylmalonic encephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2697 Label: Arthrogryposis - renal dysfunction - cholestasis - 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' + 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2698 Label: Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - 'Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' + 'Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2691 Label: Nevo syndrome - 'Nevo syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_213512 Label: Malignant mixed epithelial mesenchymal tumor of the ovary + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_140044 Label: four and a half LIM domains 1 - 'four and a half LIM domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' Class: http://www.orpha.net/ORDO/Orphanet_85198 Label: Dysspondyloenchondromatosis + 'Dysspondyloenchondromatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Dysspondyloenchondromatosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_84065 Label: Idiopathic malabsorption due to bile acid synthesis defects - 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' + 'Idiopathic malabsorption due to bile acid synthesis defects' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_228308 Label: Carnitine palmitoyl transferase II deficiency, neonatal form - 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_228302 Label: Carnitine palmitoyl transferase II deficiency, myopathic form - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_228305 Label: Carnitine palmitoyl transferase II deficiency, severe infantile form - 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' + 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_225123 Label: Hemochromatosis type 3 - 'Hemochromatosis type 3' SubClassOf 'disease' + 'Hemochromatosis type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306617 Label: X-linked complicated spastic paraplegia type 1 - 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' + 'X-linked complicated spastic paraplegia type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_285348 Label: miR-17-92 cluster host gene (non-protein coding) - 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some 'Feingold syndrome' + 'miR-17-92 cluster host gene (non-protein coding)' SubClassOf 'Role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_391646 Class: http://www.orpha.net/ORDO/Orphanet_210159 Label: Adult hepatocellular carcinoma - 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' + 'Adult hepatocellular carcinoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label: CLN1 disease - 'CLN1 disease' SubClassOf 'etiological subtype' + 'CLN1 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_306636 Label: Rare hepatic tumor - 'Rare hepatic tumor' SubClassOf 'group of phenome' + 'Rare hepatic tumor' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label: CLN10 disease - 'CLN10 disease' SubClassOf 'etiological subtype' + 'CLN10 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_306633 Label: Rare biliary tract cancer - 'Rare biliary tract cancer' SubClassOf 'group of phenome' + 'Rare biliary tract cancer' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_93476 Label: Hurler-Scheie syndrome - 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' + 'Hurler-Scheie syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93474 Label: Scheie syndrome - 'Scheie syndrome' SubClassOf 'clinical subtype' + 'Scheie syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93473 Label: Hurler syndrome - 'Hurler syndrome' SubClassOf 'clinical subtype' + 'Hurler syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_228340 Label: CLN4A disease - 'CLN4A disease' SubClassOf 'etiological subtype' + 'CLN4A disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228343 Label: CLN4B disease - 'CLN4B disease' SubClassOf 'etiological subtype' + 'CLN4B disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label: CLN3 disease - 'CLN3 disease' SubClassOf 'etiological subtype' + 'CLN3 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label: CLN2 disease - 'CLN2 disease' SubClassOf 'etiological subtype' + 'CLN2 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_225154 Label: Familial infantile bilateral striatal necrosis + 'Familial infantile bilateral striatal necrosis' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_210571 Label: Dystonia 16 - 'Dystonia 16' SubClassOf 'part_of' some 'Combined dystonia' + 'Dystonia 16' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_210566 Label: Myoclonic dystonia 15 - 'Myoclonic dystonia 15' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_251863 Label: Desmoplastic/nodular medulloblastoma - 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Desmoplastic/nodular medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_251855 Label: Anaplastic/large cell medulloblastoma + 'Anaplastic/large cell medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_66631 Label: CEDNIK syndrome - 'CEDNIK syndrome' SubClassOf 'disease' + 'CEDNIK syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251867 Label: Classic medulloblastoma + 'Classic medulloblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_66634 Label: Dilated cardiomyopathy with ataxia - 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' + 'Dilated cardiomyopathy with ataxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_90290 Label: CREST syndrome - 'CREST syndrome' SubClassOf 'part_of' some 'Limited cutaneous systemic sclerosis' - 'CREST syndrome' SubClassOf 'disease' + 'CREST syndrome' SubClassOf 'clinical subtype' + 'CREST syndrome' SubClassOf 'part_of' some 'Systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_356638 Label: immunoglobulin heavy variable 4-34 + 'immunoglobulin heavy variable 4-34' SubClassOf 'Major susceptibility factor in' some 'Hairy cell leukemia' Class: http://www.orpha.net/ORDO/Orphanet_251899 Label: Choroid plexus carcinoma + 'Choroid plexus carcinoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_317387 Label: calmodulin 1 (phosphorylase kinase, delta) - 'calmodulin 1 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_54370 Label: Primary membranoproliferative glomerulonephritis - 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' + 'Primary membranoproliferative glomerulonephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307871 Label: Disease with focal palmoplantar keratoderma as a major feature - 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_163703 Label: Febrile infection-related epilepsy syndrome - 'Febrile infection-related epilepsy syndrome' SubClassOf 'Acute encephalopathy with inflammation-mediated status epilepticus' + 'Febrile infection-related epilepsy syndrome' SubClassOf 'part_of' some 'Acute encephalopathy with inflammation-mediated status epilepticus' Class: http://www.orpha.net/ORDO/Orphanet_178503 Label: Dursun syndrome - 'Dursun syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_371861 Label: Genetic hyperaldosteronism - 'Genetic hyperaldosteronism' SubClassOf 'group of phenome' + 'Genetic hyperaldosteronism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_251883 Label: Medulloepithelioma - 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Medulloepithelioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_304263 Label: ADAM metallopeptidase with thrombospondin type 1 motif, 17 - 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weill-Marchesani syndrome' + 'ADAM metallopeptidase with thrombospondin type 1 motif, 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251880 Label: Ependymoblastoma - 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Ependymoblastoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_324999 Label: JMP syndrome + 'JMP syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'JMP syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'JMP syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_2778 Label: Juvenile chronic recurrent multifocal osteomyelitis - 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_2775 Label: Autosomal recessive carpotarsal osteolysis - 'Autosomal recessive carpotarsal osteolysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_307804 Label: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_377530 Label: formin 2 - 'formin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nonsyndromic intellectual deficit' - 'formin 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_308573 Label: Glycogen storage disease due to acid maltase deficiency, juvenile onset - 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2730 Label: Postaxial tetramelic oligodactyly - 'Postaxial tetramelic oligodactyly' SubClassOf 'malformation syndrome' + 'Postaxial tetramelic oligodactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_307846 Label: Isolated focal palmoplantar keratoderma - 'Isolated focal palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Isolated focal palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2745 Label: Opitz G/BBB syndrome - 'Opitz G/BBB syndrome' SubClassOf 'malformation syndrome' + 'Opitz G/BBB syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2743 Label: Ophthalmoplegia - intellectual deficit - lingua scrotalis - 'Ophthalmoplegia - intellectual deficit - lingua scrotalis' SubClassOf 'malformation syndrome' + 'Ophthalmoplegia - intellectual deficit - lingua scrotalis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2739 Label: Onycho-tricho-dysplasia - neutropenia - 'Onycho-tricho-dysplasia - neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_307837 Label: Focal palmoplantar keratoderma - 'Focal palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Focal palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308552 Label: Glycogen storage disease due to acid maltase deficiency, infantile onset - 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2712 Label: Oculofaciocardiodental syndrome - 'Oculofaciocardiodental syndrome' SubClassOf 'malformation syndrome' + 'Oculofaciocardiodental syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284139 Label: Larsen-like syndrome, B3GAT3 type - 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'malformation syndrome' + 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2721 Label: Odonto-onycho-dermal dysplasia - 'Odonto-onycho-dermal dysplasia' SubClassOf 'disease' + 'Odonto-onycho-dermal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_37629 Label: Neonatal neutropenia - 'Neonatal neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90341 Label: Early-onset sarcoidosis - 'Early-onset sarcoidosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90350 Label: Autosomal recessive cutis laxa type 2 - 'Autosomal recessive cutis laxa type 2' SubClassOf 'group of phenome' + 'Autosomal recessive cutis laxa type 2' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_90338 Label: Margarita island ectodermal dysplasia - 'Margarita island ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_308520 Label: Glycogen storage disease due to glycogen synthase deficiency - 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'group of phenome' + 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_159118 Label: zinc finger protein 41 - 'zinc finger protein 41' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual deficit' + 'zinc finger protein 41' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual deficit' Class: http://www.orpha.net/ORDO/Orphanet_90368 Label: Hypotrichosis simplex of the scalp - 'Hypotrichosis simplex of the scalp' SubClassOf 'Hypotrichosis simplex' + 'Hypotrichosis simplex of the scalp' SubClassOf 'part_of' some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_319504 Label: Combined oxidative phosphorylation defect type 8 - 'Combined oxidative phosphorylation defect type 8' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 8' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77241 Label: Lymphedema praecox - 'Lymphedema praecox' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77242 Label: Lymphedema tarda - 'Lymphedema tarda' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90354 Label: Brittle cornea syndrome - 'Brittle cornea syndrome' SubClassOf 'disease' + 'Brittle cornea syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_319509 Label: Combined oxidative phosphorylation defect type 9 - 'Combined oxidative phosphorylation defect type 9' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 9' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120618 Label: Zic family member 4 - 'Zic family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Dandy-Walker malformation' + 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' + 'Zic family member 4' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_319519 Label: Combined oxidative phosphorylation defect type 14 - 'Combined oxidative phosphorylation defect type 14' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 14' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_251909 Label: Pineoblastoma + 'Pineoblastoma' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_77259 Label: Gaucher disease type 1 - 'Gaucher disease type 1' SubClassOf 'clinical subtype' + 'Gaucher disease type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_319514 Label: Combined oxidative phosphorylation defect type 13 - 'Combined oxidative phosphorylation defect type 13' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 13' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77260 Label: Gaucher disease type 2 - 'Gaucher disease type 2' SubClassOf 'clinical subtype' + 'Gaucher disease type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_319524 Label: Combined oxidative phosphorylation defect type 15 - 'Combined oxidative phosphorylation defect type 15' SubClassOf 'disease' + 'Combined oxidative phosphorylation defect type 15' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_77261 Label: Gaucher disease type 3 - 'Gaucher disease type 3' SubClassOf 'clinical subtype' + 'Gaucher disease type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119394 Label: checkpoint kinase 2 - 'checkpoint kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome' - 'checkpoint kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'checkpoint kinase 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120606 Label: Zic family member 1 - 'Zic family member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated Dandy-Walker malformation' + 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' + 'Zic family member 1' SubClassOf 'Role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_285657 Label: Disorder of folate metabolism and transport - 'Disorder of folate metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of folate metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_268162 Label: Intermediate maple syrup urine disease - 'Intermediate maple syrup urine disease' SubClassOf 'clinical subtype' + 'Intermediate maple syrup urine disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306446 Label: Congenital sucrase-isomaltase deficiency with minimal starch tolerance - 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_268184 Label: Thiamine-responsive maple syrup urine disease - 'Thiamine-responsive maple syrup urine disease' SubClassOf 'clinical subtype' + 'Thiamine-responsive maple syrup urine disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306462 Label: Congenital sucrase-isomaltase deficiency without starch intolerance - 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_35664 Label: ALDH18A1-related De Barsy syndrome - 'ALDH18A1-related De Barsy syndrome' SubClassOf 'etiological subtype' + 'ALDH18A1-related De Barsy syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_171081 Label: transient receptor potential cation channel, subfamily V, member 4 - 'transient receptor potential cation channel, subfamily V, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Scapuloperoneal amyotrophy' Class: http://www.orpha.net/ORDO/Orphanet_268173 Label: Intermittent maple syrup urine disease - 'Intermittent maple syrup urine disease' SubClassOf 'clinical subtype' + 'Intermittent maple syrup urine disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306474 Label: 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 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_35656 Label: Coenzyme Q10 deficiency - 'Coenzyme Q10 deficiency' SubClassOf 'group of phenome' + 'Coenzyme Q10 deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_201 Label: Cowden syndrome - 'Cowden syndrome' SubClassOf 'disease' + 'Cowden syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_205 Label: Crigler-Najjar syndrome - 'Crigler-Najjar syndrome' SubClassOf 'disease' + 'Crigler-Najjar syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329178 Label: Congenital muscular dystrophy with intellectual disability and severe epilepsy - 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disease' + 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_304191 Label: GATA binding protein 5 - 'GATA binding protein 5' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' - 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ventricular septal defect' + 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' Class: http://www.orpha.net/ORDO/Orphanet_213 Label: Cystinosis - 'Cystinosis' SubClassOf 'disease' + 'Cystinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_212 Label: Cystathioninuria - 'Cystathioninuria' SubClassOf 'disease' + 'Cystathioninuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_214 Label: Cystinuria - 'Cystinuria' SubClassOf 'disease' + 'Cystinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_216 Label: Neuronal ceroid lipofuscinosis - 'Neuronal ceroid lipofuscinosis' SubClassOf 'group of phenome' + 'Neuronal ceroid lipofuscinosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_89833 Label: Palmoplantar keratoderma with tonotubular keratin - 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_268145 Label: Classic maple syrup urine disease - 'Classic maple syrup urine disease' SubClassOf 'clinical subtype' + 'Classic maple syrup urine disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_89845 Label: Idiopathic hydrops fetalis - 'Idiopathic hydrops fetalis' SubClassOf 'part_of' some 'Syndromic lymphedema' - 'Idiopathic hydrops fetalis' SubClassOf 'disease' + 'Idiopathic hydrops fetalis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_306436 Label: 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 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306431 Label: Acquired adult-onset immunodeficiency - 'Acquired adult-onset immunodeficiency' SubClassOf 'disease' + 'Acquired adult-onset immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_54238 Label: Myotonic dystrophy type 3 - 'Myotonic dystrophy type 3' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_254793 Label: 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 phenome' + 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2802 Label: X-linked sideroblastic anemia - ataxia - 'X-linked sideroblastic anemia - ataxia' SubClassOf 'disease' + 'X-linked sideroblastic anemia - ataxia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_85333 Label: Intellectual deficit, X-linked - Spastic paraplegia with iron deposits - 'Intellectual deficit, X-linked - Spastic paraplegia with iron deposits' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_85331 Label: Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature - 'Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'disease' + 'Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_69077 Label: Rhabdoid tumor - 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_307995 Label: Marginal papular palmoplantar keratoderma - 'Marginal papular palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Marginal papular palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_69076 Label: Renal glucosuria - 'Renal glucosuria' SubClassOf 'disease' + 'Renal glucosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2820 Label: Spastic paraplegia - nephritis - deafness - 'Spastic paraplegia - nephritis - deafness' SubClassOf 'clinical syndrome' + 'Spastic paraplegia - nephritis - deafness' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289902 Label: 3-methylglutaconic aciduria - '3-methylglutaconic aciduria' SubClassOf 'group of phenome' + '3-methylglutaconic aciduria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_69087 Label: Naegeli-Franceschetti-Jadassohn syndrome - 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'disease' + 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2807 Label: Papilloma of choroid plexus + 'Papilloma of choroid plexus' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_306486 Label: Congenital sucrase-isomaltase deficiency without sucrose intolerance - 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'clinical subtype' + 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_254749 Label: Tricarboxylic acid cycle disorder - 'Tricarboxylic acid cycle disorder' SubClassOf 'group of phenome' + 'Tricarboxylic acid cycle disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_54272 Label: Hepatocellular adenoma - 'Hepatocellular adenoma' SubClassOf 'disease' + 'Hepatocellular adenoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289916 Label: Vitamin B12-unresponsive methylmalonic acidemia type mut0 - 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'clinical subtype' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_254758 Label: Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_69063 Label: Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization - 'Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization' SubClassOf 'has_prevalence' some 'Unknown' - 'Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization' SubClassOf 'has_inheritance' some 'sporadic' + 'Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_306498 Label: PTEN hamartoma tumor syndrome - 'PTEN hamartoma tumor syndrome' SubClassOf 'group of phenome' + 'PTEN hamartoma tumor syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_69061 Label: Idiopathic steroid-sensitive nephrotic syndrome - 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'disease' + 'Idiopathic steroid-sensitive nephrotic syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254767 Label: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_91088 Label: Other metabolic disease - 'Other metabolic disease' SubClassOf 'group of phenome' + 'Other metabolic disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_95159 Label: Hepatoerythropoietic porphyria - 'Hepatoerythropoietic porphyria' SubClassOf 'disease' + 'Hepatoerythropoietic porphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_254776 Label: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_95161 Label: Chronic hepatic porphyria - 'Chronic hepatic porphyria' SubClassOf 'group of phenome' + 'Chronic hepatic porphyria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_254788 Label: Maternally-inherited mitochondrial myopathy - 'Maternally-inherited mitochondrial myopathy' SubClassOf 'group of phenome' + 'Maternally-inherited mitochondrial myopathy' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_95157 Label: Acute hepatic porphyria - 'Acute hepatic porphyria' SubClassOf 'group of phenome' + 'Acute hepatic porphyria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2871 Label: Pfeiffer-Palm-Teller syndrome - 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'malformation syndrome' + 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_31150 Label: Tangier disease - 'Tangier disease' SubClassOf 'disease' + 'Tangier disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_31153 Label: Hypoalphalipoproteinemia - 'Hypoalphalipoproteinemia' SubClassOf 'group of phenome' + 'Hypoalphalipoproteinemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_31154 Label: Hypobetalipoproteinemia - 'Hypobetalipoproteinemia' SubClassOf 'group of phenome' + 'Hypobetalipoproteinemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2880 Label: Phosphoenolpyruvate carboxykinase deficiency - 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disease' + 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2881 Label: Cutaneous photosensitivity - lethal colitis - 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'disease' + 'Cutaneous photosensitivity - lethal colitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2882 Label: Sitosterolemia - 'Sitosterolemia' SubClassOf 'disease' + 'Sitosterolemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_38874 Label: Dihydropyrimidinuria - 'Dihydropyrimidinuria' SubClassOf 'disease' + 'Dihydropyrimidinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2889 Label: Pili torti - 'Pili torti' SubClassOf 'malformation syndrome' + 'Pili torti' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_138514 Label: SATB homeobox 2 - 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q32q33 microdeletion syndrome' + 'SATB homeobox 2' SubClassOf 'Role in the phenotype of' some '2q32q33 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2899 Label: Brachyolmia-amelogenesis imperfecta syndrome - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Brachyolmia' - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'disease' - 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'malformation syndrome' + 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'part_of' some 'Brachyolmia' Class: http://www.orpha.net/ORDO/Orphanet_254746 Label: Pyruvate metabolism disorder - 'Pyruvate metabolism disorder' SubClassOf 'group of phenome' + 'Pyruvate metabolism disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2895 Label: Pinsky-Di George-Harley syndrome - 'Pinsky-Di George-Harley syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_192 Label: Coffin-Lowry syndrome + 'Coffin-Lowry syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_216986 Label: Niemann-Pick disease type C, adult neurologic onset - 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_193 Label: Cohen syndrome - 'Cohen syndrome' SubClassOf 'malformation syndrome' + 'Cohen syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_216981 Label: Niemann-Pick disease type C, juvenile neurologic onset - 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_198 Label: Occipital horn syndrome - 'Occipital horn syndrome' SubClassOf 'disease' + 'Occipital horn syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_216989 Label: Autosomal dominant dystrophic epidermolysis bullosa, Pasini type - 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_138503 Label: gap junction protein, alpha 5, 40kDa - 'gap junction protein, alpha 5, 40kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' Class: http://www.orpha.net/ORDO/Orphanet_120710 Label: collagen, type II, alpha 1 + 'collagen, type II, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dysspondyloenchondromatosis' Class: http://www.orpha.net/ORDO/Orphanet_216972 Label: Niemann-Pick disease type C, severe perinatal form - 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_216975 Label: Niemann-Pick disease type C, severe early infantile neurologic onset - 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_187 Label: Citrullinemia - 'Citrullinemia' SubClassOf 'group of phenome' + 'Citrullinemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_184 Label: Cherubism + 'Cherubism' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_33402 Label: Hepatocellular carcinoma, childhood-onset - 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'clinical subtype' + 'Hepatocellular carcinoma, childhood-onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_189 Label: Hidrotic ectodermal dysplasia - 'Hidrotic ectodermal dysplasia' SubClassOf 'disease' + 'Hidrotic ectodermal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_216978 Label: Niemann-Pick disease type C, late infantile neurologic onset - 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'clinical subtype' + 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_308670 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2834 Label: Wrinkly skin syndrome - 'Wrinkly skin syndrome' SubClassOf 'clinical subtype' - 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' + 'Wrinkly skin syndrome' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2A' + 'Wrinkly skin syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2829 Label: Partington-Anderson syndrome - 'Partington-Anderson syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2843 Label: Pentosuria - 'Pentosuria' SubClassOf 'disease' + 'Pentosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307936 Label: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2837 Label: Pellagra-like skin rash - neurological manifestations - 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'disease' + 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93280 Label: Spondyloepiphyseal dysplasia, Omani type - 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2855 Label: Perrault syndrome - 'Perrault syndrome' SubClassOf 'disease' + 'Perrault syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2853 Label: Serpentine fibula - polycystic kidneys - 'Serpentine fibula - polycystic kidneys' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99013 Label: Autosomal recessive spastic paraplegia type 7 - 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99014 Label: X-linked Charcot-Marie-Tooth disease type 5 - 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'disease' + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93284 Label: Spondyloepiphyseal dysplasia tarda - 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'disease' + 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307967 Label: Punctate palmoplantar keratoderma - 'Punctate palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Punctate palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308698 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_308684 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99022 Label: Niemann-Pick disease type E - 'Niemann-Pick disease type E' SubClassOf 'disease' + 'Niemann-Pick disease type E' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93275 Label: Thanatophoric dysplasia, Glasgow variant - 'Thanatophoric dysplasia, Glasgow variant' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_132 Label: Butyrylcholinesterase deficiency - 'Butyrylcholinesterase deficiency' SubClassOf 'disease' + 'Butyrylcholinesterase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308638 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139 Label: CHILD syndrome - 'CHILD syndrome' SubClassOf 'disease' + 'CHILD syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137 Label: Congenital disorder of glycosylation - 'Congenital disorder of glycosylation' SubClassOf 'group of phenome' + 'Congenital disorder of glycosylation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_138 Label: CHARGE syndrome - 'CHARGE syndrome' SubClassOf 'malformation syndrome' + 'CHARGE syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_134 Label: Ketoacidosis due to beta-ketothiolase deficiency - 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'disease' + 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93209 Label: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation - 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Idiopathic steroid-sensitive nephrotic syndrome' - 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'disease' + 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' + 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_308621 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_93207 Label: Idiopathic steroid-sensitive nephrotic syndrome with minimal change - 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'etiological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_123 Label: Bj�rnstad syndrome - 'Bj�rnstad syndrome' SubClassOf 'disease' + 'Bj�rnstad syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124 Label: Blackfan-Diamond anemia - 'Blackfan-Diamond anemia' SubClassOf 'disease' + 'Blackfan-Diamond anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93206 Label: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis - 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'etiological subtype' + 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_315306 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'part_of' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_308655 Label: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_111 Label: Barth syndrome - 'Barth syndrome' SubClassOf 'disease' + 'Barth syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118 Label: Beta-mannosidosis - 'Beta-mannosidosis' SubClassOf 'disease' + 'Beta-mannosidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_116 Label: Beckwith-Wiedemann syndrome - 'Beckwith-Wiedemann syndrome' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Beckwith-Wiedemann syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_109 Label: Bannayan-Riley-Ruvalcaba syndrome - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'malformation syndrome' + 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_104 Label: Leber hereditary optic neuropathy - 'Leber hereditary optic neuropathy' SubClassOf 'disease' + 'Leber hereditary optic neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_178 Label: Chordoma - 'Chordoma' SubClassOf 'part_of' some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_177 Label: Rhizomelic chondrodysplasia punctata - 'Rhizomelic chondrodysplasia punctata' SubClassOf 'disease' + 'Rhizomelic chondrodysplasia punctata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_175 Label: Cartilage-hair hypoplasia - 'Cartilage-hair hypoplasia' SubClassOf 'disease' + 'Cartilage-hair hypoplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_172 Label: Progressive familial intrahepatic cholestasis - 'Progressive familial intrahepatic cholestasis' SubClassOf 'disease' + 'Progressive familial intrahepatic cholestasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_315311 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'part_of' some 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_167 Label: Ch�diak-Higashi syndrome - 'Ch�diak-Higashi syndrome' SubClassOf 'disease' + 'Ch�diak-Higashi syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_165 Label: Neutral lipid storage disease - 'Neutral lipid storage disease' SubClassOf 'group of phenome' + 'Neutral lipid storage disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_120726 Label: collagen, type IV, alpha 6 + 'collagen, type IV, alpha 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked nonsyndromic sensorineural deafness type DFN' Class: http://www.orpha.net/ORDO/Orphanet_158 Label: Carnitine uptake deficiency - 'Carnitine uptake deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Carnitine uptake deficiency' SubClassOf 'disease' + 'Carnitine uptake deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Carnitine uptake deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_157 Label: Carnitine palmitoyl transferase II deficiency - 'Carnitine palmitoyl transferase II deficiency' SubClassOf 'disease' + 'Carnitine palmitoyl transferase II deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_156 Label: Carnitine palmitoyl transferase 1A deficiency - 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disease' + 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159 Label: Carnitine-acylcarnitine translocase deficiency - 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disease' + 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_209341 Label: Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'disease' - 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'part_of' some 'Autosomal dominant proximal spinal muscular atrophy' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'part_of' some 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' + 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_291853 Label: GATA binding protein 6 - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal' - 'GATA binding protein 6' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' - 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' + 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal - ventricle hypoplasia' + 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'GATA binding protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' Class: http://www.orpha.net/ORDO/Orphanet_166892 Label: growth differentiation factor 1 + 'growth differentiation factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ivemark syndrome' Class: http://www.orpha.net/ORDO/Orphanet_147 Label: Carbamoylphosphate synthetase deficiency - 'Carbamoylphosphate synthetase deficiency' SubClassOf 'disease' + 'Carbamoylphosphate synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_148 Label: Multiple carboxylase deficiency - 'Multiple carboxylase deficiency' SubClassOf 'group of phenome' + 'Multiple carboxylase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308604 Label: Glycogen storage disease due to acid maltase deficiency, adult onset - 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_141 Label: Canavan disease - 'Canavan disease' SubClassOf 'disease' + 'Canavan disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120754 Label: collagen, type IX, alpha 3 + 'collagen, type IX, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive Stickler syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308400 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'etiological subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_308407 Label: Disorder of beta and omega amino acid metabolism - 'Disorder of beta and omega amino acid metabolism' SubClassOf 'group of phenome' + 'Disorder of beta and omega amino acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_280 Label: Wolf-Hirschhorn syndrome - 'Wolf-Hirschhorn syndrome' SubClassOf 'malformation syndrome' + 'Wolf-Hirschhorn syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247573 Label: Adult-onset citrullinemia type I - 'Adult-onset citrullinemia type I' SubClassOf 'clinical subtype' + 'Adult-onset citrullinemia type I' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_308410 Label: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'disease' + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70482 Label: Esophageal carcinoma - 'Esophageal carcinoma' SubClassOf 'group of phenome' - 'Esophageal carcinoma' SubClassOf 'Gastro-esophageal tumor' + 'Esophageal carcinoma' SubClassOf 'part_of' some 'Gastro-esophageal tumor' + 'Esophageal carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_63269 Label: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_295 Label: Fetal parvovirus syndrome - 'Fetal parvovirus syndrome' SubClassOf 'disease' + 'Fetal parvovirus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35173 Label: X-linked dominant chondrodysplasia punctata - 'X-linked dominant chondrodysplasia punctata' SubClassOf 'disease' + 'X-linked dominant chondrodysplasia punctata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_298 Label: Mitochondrial neurogastrointestinal encephalomyopathy - 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'disease' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70472 Label: Congenital lactic acidosis, Saguenay-Lac-St. Jean type - 'Congenital lactic acidosis, Saguenay-Lac-St. Jean type' SubClassOf 'disease' + 'Congenital lactic acidosis, Saguenay-Lac-St. Jean type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70474 Label: Leigh syndrome with cardiomyopathy - 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease' + 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70470 Label: Hyperlipoproteinemia type 5 - 'Hyperlipoproteinemia type 5' SubClassOf 'disease' + 'Hyperlipoproteinemia type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309515 Label: Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'group of phenome' + 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_314667 Label: TMEM165-CDG - 'TMEM165-CDG' SubClassOf 'disease' + 'TMEM165-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309526 Label: Disorder of multiple glycosylation - 'Disorder of multiple glycosylation' SubClassOf 'group of phenome' + 'Disorder of multiple glycosylation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_270 Label: Oculopharyngeal muscular dystrophy + 'Oculopharyngeal muscular dystrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_272 Label: Congenital muscular dystrophy, Fukuyama type - 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_247546 Label: Acute neonatal citrullinemia type I - 'Acute neonatal citrullinemia type I' SubClassOf 'clinical subtype' + 'Acute neonatal citrullinemia type I' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_277 Label: Severe combined immunodeficiency due to adenosine deaminase deficiency - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'disease' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123797 Label: NK2 homeobox 5 - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ventricular septal defect' - 'NK2 homeobox 5' SubClassOf 'Modifying germline mutation in' some 'Familial atrial fibrillation' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Single ventricular septal defect' + 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_220909 Label: FRAS1 related extracellular matrix 1 - 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' + 'FRAS1 related extracellular matrix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' Class: http://www.orpha.net/ORDO/Orphanet_33572 Label: 5-oxoprolinase deficiency - '5-oxoprolinase deficiency' SubClassOf 'disease' + '5-oxoprolinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_255 Label: Dopa-responsive dystonia - 'Dopa-responsive dystonia' SubClassOf 'Combined dystonia' + 'Dopa-responsive dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_250 Label: Frontonasal dysplasia - 'Frontonasal dysplasia' SubClassOf 'part_of' some 'Median facial cleft' - 'Frontonasal dysplasia' SubClassOf 'malformation syndrome' - 'Frontonasal dysplasia' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' - 'Frontonasal dysplasia' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit' - 'Frontonasal dysplasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit' + 'Frontonasal dysplasia' SubClassOf 'group of phenome' + 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' Class: http://www.orpha.net/ORDO/Orphanet_253 Label: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'Syndromic corneal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_33574 Label: Gamma-glutamylcysteine synthetase deficiency - 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'disease' + 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_33573 Label: Gamma-glutamyl transpeptidase deficiency - 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'disease' + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_218 Label: Darier disease - 'Darier disease' SubClassOf 'clinical subtype' + 'Darier disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247598 Label: Neonatal intrahepatic cholestasis due to citrin deficiency - 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'disease' + 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79062 Label: Disorder of amino acid and other organic acid metabolism - 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'group of phenome' + 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_226 Label: Dihydropteridine reductase deficiency - 'Dihydropteridine reductase deficiency' SubClassOf 'clinical subtype' + 'Dihydropteridine reductase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_225 Label: Maternally-inherited diabetes and deafness - 'Maternally-inherited diabetes and deafness' SubClassOf 'disease' + 'Maternally-inherited diabetes and deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247585 Label: Citrullinemia type II - 'Citrullinemia type II' SubClassOf 'disease' + 'Citrullinemia type II' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_234 Label: Dubin-Johnson syndrome - 'Dubin-Johnson syndrome' SubClassOf 'disease' + 'Dubin-Johnson syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247582 Label: Citrin deficiency - 'Citrin deficiency' SubClassOf 'group of phenome' + 'Citrin deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309568 Label: Defect in conserved oligomeric Golgi complex - 'Defect in conserved oligomeric Golgi complex' SubClassOf 'group of phenome' + 'Defect in conserved oligomeric Golgi complex' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_230 Label: Dopamine beta-hydroxylase deficiency - 'Dopamine beta-hydroxylase deficiency' SubClassOf 'disease' + 'Dopamine beta-hydroxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314603 Label: Autosomal recessive spastic ataxia with leukoencephalopathy - 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'disease' + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35107 Label: Desmosterolosis - 'Desmosterolosis' SubClassOf 'disease' + 'Desmosterolosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2962 Label: De Barsy syndrome - 'De Barsy syndrome' SubClassOf 'disease' + 'De Barsy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308487 Label: Generalized galactose epimerase deficiency - 'Generalized galactose epimerase deficiency' SubClassOf 'clinical subtype' + 'Generalized galactose epimerase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2967 Label: Protein R deficiency - 'Protein R deficiency' SubClassOf 'disease' + 'Protein R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2965 Label: Prolactinoma + 'Prolactinoma' SubClassOf 'has_prevalence' some '6-9 / 10 000' + 'Prolactinoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_121501 Label: ATPase, Na+/K+ transporting, alpha 3 polypeptide - 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'ATPase, Na+/K+ transporting, alpha 3 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_2946 Label: Brachydactyly - long thumb - 'Brachydactyly - long thumb' SubClassOf 'malformation syndrome' + 'Brachydactyly - long thumb' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_250932 Label: Autosomal dominant optic atrophy and peripheral neuropathy - 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79078 Label: Mikulicz disease - 'Mikulicz disease' SubClassOf 'Immunoglobulin G4-related sclerosing disease' + 'Mikulicz disease' SubClassOf 'part_of' some 'Immunoglobulin G4-related sclerosing disease' Class: http://www.orpha.net/ORDO/Orphanet_2953 Label: Ehlers-Danlos syndrome, musculocontractural type - 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disease' + 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308467 Label: Disorder of galactose metabolism - 'Disorder of galactose metabolism' SubClassOf 'group of phenome' + 'Disorder of galactose metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2989 Label: Pterygium of the conjunctiva, familial form + 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pterygium of the conjunctiva, familial form' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_308463 Label: Disorder of fructose metabolism - 'Disorder of fructose metabolism' SubClassOf 'group of phenome' + 'Disorder of fructose metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2985 Label: Pseudoprogeria syndrome - 'Pseudoprogeria syndrome' SubClassOf 'malformation syndrome' + 'Pseudoprogeria syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2969 Label: Proteus-like syndrome - 'Proteus-like syndrome' SubClassOf 'disease' + 'Proteus-like syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79095 Label: Congenital bile acid synthesis defect type 4 - 'Congenital bile acid synthesis defect type 4' SubClassOf 'disease' + 'Congenital bile acid synthesis defect type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79097 Label: Folinic acid-responsive seizures - 'Folinic acid-responsive seizures' SubClassOf 'disease' + 'Folinic acid-responsive seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79096 Label: Pyridoxal phosphate-responsive seizures - 'Pyridoxal phosphate-responsive seizures' SubClassOf 'disease' + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308473 Label: Erythrocyte galactose epimerase deficiency - 'Erythrocyte galactose epimerase deficiency' SubClassOf 'clinical subtype' + 'Erythrocyte galactose epimerase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121513 Label: elaC ribonuclease Z 2 - 'elaC ribonuclease Z 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'elaC ribonuclease Z 2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_123774 Label: neurofibromin 2 (merlin) - 'neurofibromin 2 (merlin)' SubClassOf 'Modifying somatic mutation in' some 'Neurofibromatosis type 3' + 'neurofibromin 2 (merlin)' SubClassOf 'Modifying somatic mutation in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_2971 Label: Peroxisomal acyl-CoA oxidase deficiency - 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disease' + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308448 Label: Aminoacylase deficiency - 'Aminoacylase deficiency' SubClassOf 'group of phenome' + 'Aminoacylase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308442 Label: Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'clinical subtype' + 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_118561 Label: succinate dehydrogenase complex, subunit D, integral membrane protein + 'succinate dehydrogenase complex, subunit D, integral membrane protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated succinate-CoQ reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_308459 Label: Disorder of glycolysis - 'Disorder of glycolysis' SubClassOf 'group of phenome' + 'Disorder of glycolysis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309505 Label: Disorder of fucoglycosan synthesis - 'Disorder of fucoglycosan synthesis' SubClassOf 'group of phenome' + 'Disorder of fucoglycosan synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308451 Label: Disorder of neutral amino acid transport - 'Disorder of neutral amino acid transport' SubClassOf 'group of phenome' + 'Disorder of neutral amino acid transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_2998 Label: Carnevale syndrome - 'Carnevale syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2997 Label: Ptosis - vocal cord paralysis - 'Ptosis - vocal cord paralysis' SubClassOf 'malformation syndrome' + 'Ptosis - vocal cord paralysis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209886 Label: Familial juvenile hyperuricemic nephropathy type 1 - 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'disease' + 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2999 Label: Ptosis - strabismus - ectopic pupils - 'Ptosis - strabismus - ectopic pupils' SubClassOf 'malformation syndrome' + 'Ptosis - strabismus - ectopic pupils' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_84271 Label: Sporadic idiopathic steroid-resistant nephrotic syndrome - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'group of phenome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Idiopathic nephrotic syndrome' - 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'clinical syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Idiopathic nephrotic syndrome' + 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'part_of' some 'Primary glomerular disease' Class: http://www.orpha.net/ORDO/Orphanet_35121 Label: Acid phosphatase deficiency - 'Acid phosphatase deficiency' SubClassOf 'disease' + 'Acid phosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35120 Label: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_35123 Label: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual deficit' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some '3-hydroxyacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_35122 Label: Congenital sucrase-isomaltase deficiency - 'Congenital sucrase-isomaltase deficiency' SubClassOf 'disease' + 'Congenital sucrase-isomaltase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314629 Label: CLN11 disease - 'CLN11 disease' SubClassOf 'etiological subtype' + 'CLN11 disease' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_308425 Label: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'disease' + 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314632 Label: Parkinsonim due to ATP13A2 deficiency - 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'disease' + 'Parkinsonim due to ATP13A2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314637 Label: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'disease' + 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_353460 Label: tetratricopeptide repeat domain 7A + 'tetratricopeptide repeat domain 7A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_352309 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'group of phenome' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352306 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'group of phenome' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352312 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'group of phenome' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352301 Label: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'group of phenome' + 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_370034 Label: Familial syringomyelia - 'Familial syringomyelia' SubClassOf 'malformation syndrome' + 'Familial syringomyelia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2912 Label: Poliomyelitis - 'Poliomyelitis' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_293165 Label: Skin fragility-woolly hair-palmoplantar keratoderma syndrome - 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'disease' + 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2908 Label: Kindler syndrome - 'Kindler syndrome' SubClassOf 'disease' + 'Kindler syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2909 Label: Rothmund-Thomson syndrome - 'Rothmund-Thomson syndrome' SubClassOf 'disease' + 'Rothmund-Thomson syndrome' SubClassOf 'part_of' some 'Hereditary poikiloderma' + 'Rothmund-Thomson syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119904 Label: surfeit 1 + 'surfeit 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391351 Class: http://www.orpha.net/ORDO/Orphanet_2907 Label: Hereditary acrokeratotic poikiloderma, Weary type - 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'clinical subtype' + 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121529 Label: empty spiracles homeobox 2 - 'empty spiracles homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'empty spiracles homeobox 2' SubClassOf 'Candidate gene tested in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_2921 Label: Preaxial polydactyly - colobomata - intellectual deficit - 'Preaxial polydactyly - colobomata - intellectual deficit' SubClassOf 'malformation syndrome' + 'Preaxial polydactyly - colobomata - intellectual deficit' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2917 Label: Polydactyly-myopia syndrome - 'Polydactyly-myopia syndrome' SubClassOf 'malformation syndrome' - 'Polydactyly-myopia syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Polydactyly-myopia syndrome' SubClassOf 'malformation syndrome' + 'Polydactyly-myopia syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_2916 Label: Postaxial polydactyly - dental and vertebral anomalies - 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'malformation syndrome' + 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308393 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'etiological subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_352328 Label: MEGDEL syndrome - 'MEGDEL syndrome' SubClassOf 'disease' + 'MEGDEL syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352333 Label: Congenital ichthyosis - intellectual deficit - spastic quadriplegia - 'Congenital ichthyosis - intellectual deficit - spastic quadriplegia' SubClassOf 'disease' + 'Congenital ichthyosis - intellectual deficit - spastic quadriplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2926 Label: Polyneuropathy - hand defect - 'Polyneuropathy - hand defect' SubClassOf 'malformation syndrome' + 'Polyneuropathy - hand defect' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121567 Label: EPH receptor B2 - 'EPH receptor B2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'EPH receptor B2' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_308386 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'etiological subtype' - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'part_of' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_308380 Label: Methylcobalamin deficiency type cblDv1 - 'Methylcobalamin deficiency type cblDv1' SubClassOf 'clinical subtype' + 'Methylcobalamin deficiency type cblDv1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_247604 Label: Juvenile primary lateral sclerosis - 'Juvenile primary lateral sclerosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Juvenile primary lateral sclerosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_333 Label: Farber lipogranulomatosis - 'Farber lipogranulomatosis' SubClassOf 'disease' + 'Farber lipogranulomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_334 Label: Familial atrial fibrillation + 'Familial atrial fibrillation' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_332 Label: Congenital intrinsic factor deficiency - 'Congenital intrinsic factor deficiency' SubClassOf 'disease' + 'Congenital intrinsic factor deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_321 Label: Multiple osteochondromas - 'Multiple osteochondromas' SubClassOf 'disease' + 'Multiple osteochondromas' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324 Label: Fabry disease - 'Fabry disease' SubClassOf 'disease' + 'Fabry disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101150 Label: Autosomal recessive dopa-responsive dystonia - 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'disease' + 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_316 Label: Progressive symmetric erythrokeratodermia - 'Progressive symmetric erythrokeratodermia' SubClassOf 'disease' + 'Progressive symmetric erythrokeratodermia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101151 Label: Dystonia 14 - 'Dystonia 14' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_275761 Label: Lysosomal acid lipase deficiency - 'Lysosomal acid lipase deficiency' SubClassOf 'disease' + 'Lysosomal acid lipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163596 Label: Hb Bart's hydrops fetalis - 'Hb Bart's hydrops fetalis' SubClassOf 'has_prevalence' some 'Unknown' + 'Hb Bart's hydrops fetalis' SubClassOf 'has_prevalence' some '6-9 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_300 Label: Bifunctional enzyme deficiency - 'Bifunctional enzyme deficiency' SubClassOf 'disease' + 'Bifunctional enzyme deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97360 Label: Robinow syndrome + 'Robinow syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Robinow syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_238269 Label: Familial renal amyloidosis due to Apolipoprotein AII variant - 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'disease' - 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'Familial renal amyloidosis' + 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'part_of' some 'Familial renal amyloidosis' + 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79101 Label: Hyperprolinemia type 2 - 'Hyperprolinemia type 2' SubClassOf 'disease' + 'Hyperprolinemia type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_94086 Label: Blue diaper syndrome - 'Blue diaper syndrome' SubClassOf 'disease' + 'Blue diaper syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70593 Label: Immunodeficiency due to selective anti-polysaccharide antibody deficiency - 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' + 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'part_of' some 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' Class: http://www.orpha.net/ORDO/Orphanet_70594 Label: Dopa-responsive dystonia due to sepiapterin reductase deficiency - 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disease' + 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_70595 Label: Sensory ataxic neuropathy - dysarthria - ophthalmoparesis - 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'disease' + 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79143 Label: Congenital anonychia - 'Congenital anonychia' SubClassOf 'part_of' some 'Syndromic nail anomaly' Class: http://www.orpha.net/ORDO/Orphanet_289380 Label: Myosclerosis - 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' + 'Myosclerosis' SubClassOf 'part_of' some 'Non-dystrophic myopathy with collagen 6 anomaly' Class: http://www.orpha.net/ORDO/Orphanet_79145 Label: Dowling-Degos disease - 'Dowling-Degos disease' SubClassOf 'disease' + 'Dowling-Degos disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_386 Label: Hepatic cystic hamartoma - 'Hepatic cystic hamartoma' SubClassOf 'disease' + 'Hepatic cystic hamartoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79141 Label: Hereditary painful callosities - 'Hereditary painful callosities' SubClassOf 'disease' + 'Hereditary painful callosities' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_71517 Label: Rapid-onset dystonia-parkinsonism - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Combined dystonia' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare genetic parkinsonian disorder' + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian disorder' Class: http://www.orpha.net/ORDO/Orphanet_384 Label: Palmoplantar keratoderma-sclerodactyly syndrome - 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'disease' + 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_382 Label: Guanidinoacetate methyltransferase deficiency - 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'disease' + 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122763 Label: potassium voltage-gated channel, Isk-related family, member 1 - 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Modifying germline mutation in' some 'Familial atrial fibrillation' + 'potassium voltage-gated channel, Isk-related family, member 1' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_158087 Label: patatin-like phospholipase domain containing 6 + 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' + 'patatin-like phospholipase domain containing 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ataxia - hypogonadism - choroidal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_69723 Label: Tyrosinemia type 3 - 'Tyrosinemia type 3' SubClassOf 'disease' + 'Tyrosinemia type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_394 Label: Classical homocystinuria - 'Classical homocystinuria' SubClassOf 'disease' + 'Classical homocystinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_395 Label: Homocystinuria due to methylene tetrahydrofolate reductase deficiency - 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disease' + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_276252 Label: Xeroderma pigmentosum complementation group B - 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum/Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group B' SubClassOf 'part_of' some 'Xeroderma pigmentosum/Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_353308 Label: Pyruvate carboxylase deficiency, infantile type - 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_276258 Label: Xeroderma pigmentosum complementation group D - 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum/Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group D' SubClassOf 'part_of' some 'Xeroderma pigmentosum/Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_353314 Label: Pyruvate carboxylase deficiency, severe neonatal type - 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_35069 Label: Infantile neuroaxonal dystrophy - 'Infantile neuroaxonal dystrophy' SubClassOf 'disease' + 'Infantile neuroaxonal dystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_276264 Label: Xeroderma pigmentosum complementation group F - 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum/Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group F' SubClassOf 'part_of' some 'Xeroderma pigmentosum/Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_122744 Label: junction plakoglobin - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_276267 Label: Xeroderma pigmentosum complementation group G - 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum/Cockayne syndrome complex' + 'Xeroderma pigmentosum complementation group G' SubClassOf 'part_of' some 'Xeroderma pigmentosum/Cockayne syndrome complex' Class: http://www.orpha.net/ORDO/Orphanet_353327 Label: Congenital myasthenic syndromes with glycosylation defect - 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'etiological subtype' + 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_353320 Label: Pyruvate carboxylase deficiency, benign type - 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'clinical subtype' + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79181 Label: Disorder of histidine metabolism - 'Disorder of histidine metabolism' SubClassOf 'group of phenome' + 'Disorder of histidine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_120554 Label: WW domain containing oxidoreductase + 'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit' Class: http://www.orpha.net/ORDO/Orphanet_79186 Label: Disorder of pentose phosphate metabolism - 'Disorder of pentose phosphate metabolism' SubClassOf 'group of phenome' + 'Disorder of pentose phosphate metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79187 Label: Disorder of peptide metabolism - 'Disorder of peptide metabolism' SubClassOf 'group of phenome' + 'Disorder of peptide metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79188 Label: Peroxisomal beta-oxidation disorder - 'Peroxisomal beta-oxidation disorder' SubClassOf 'group of phenome' + 'Peroxisomal beta-oxidation disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_343 Label: Hyperimmunoglobulinemia D with periodic fever - 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'disease' + 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169090 Label: Combined immunodeficiency due to CRAC channel dysfunction - 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'etiological subtype' + 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79189 Label: Peroxisome biogenesis disorder-Zellweger syndrome spectrum - 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'group of phenome' + 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_349 Label: Fucosidosis - 'Fucosidosis' SubClassOf 'disease' + 'Fucosidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79183 Label: Disorder of ketone body metabolism - 'Disorder of ketone body metabolism' SubClassOf 'group of phenome' + 'Disorder of ketone body metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_348 Label: Fructose-1,6-bisphosphatase deficiency - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'disease' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263508 Label: COG1-CDG - 'COG1-CDG' SubClassOf 'disease' + 'COG1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79185 Label: Disorder of ornithine or proline metabolism - 'Disorder of ornithine or proline metabolism' SubClassOf 'group of phenome' + 'Disorder of ornithine or proline metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_99694 Label: Alveolar synechia - ankyloblepharon - ectodermal dysplasia - 'Alveolar synechia - ankyloblepharon - ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_263501 Label: COG4-CDG - 'COG4-CDG' SubClassOf 'disease' + 'COG4-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137625 Label: Glycogen storage disease due to muscle and heart glycogen synthase deficiency - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352 Label: Galactosemia - 'Galactosemia' SubClassOf 'group of phenome' - 'Galactosemia' SubClassOf 'Non-acquired premature ovarian failure' + 'Galactosemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309447 Label: Disorder of protein O-glycosylation - 'Disorder of protein O-glycosylation' SubClassOf 'group of phenome' + 'Disorder of protein O-glycosylation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79179 Label: Disorder of glycerol metabolism - 'Disorder of glycerol metabolism' SubClassOf 'group of phenome' + 'Disorder of glycerol metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_351 Label: Galactosialidosis - 'Galactosialidosis' SubClassOf 'disease' + 'Galactosialidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79177 Label: Gluconeogenesis disorder - 'Gluconeogenesis disorder' SubClassOf 'group of phenome' + 'Gluconeogenesis disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_354 Label: GM1 gangliosidosis - 'GM1 gangliosidosis' SubClassOf 'disease' + 'GM1 gangliosidosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79178 Label: Glucose transport disorder - 'Glucose transport disorder' SubClassOf 'group of phenome' + 'Glucose transport disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79175 Label: Disorder of gamma-aminobutyric acid metabolism - 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'group of phenome' + 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_52368 Label: Mohr-Tranebjaerg syndrome - 'Mohr-Tranebjaerg syndrome' SubClassOf 'disease' + 'Mohr-Tranebjaerg syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_355 Label: Gaucher disease - 'Gaucher disease' SubClassOf 'disease' + 'Gaucher disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_94125 Label: Recessive mitochondrial ataxia syndrome - 'Recessive mitochondrial ataxia syndrome' SubClassOf 'disease' + 'Recessive mitochondrial ataxia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79173 Label: Disorder of methionine cycle and sulfur amino acid metabolism - 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'group of phenome' + 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_358 Label: Gitelman syndrome - 'Gitelman syndrome' SubClassOf 'part_of' some 'Familial primary hypomagnesemia with hypocalcuria' - 'Gitelman syndrome' SubClassOf 'disease' + 'Gitelman syndrome' SubClassOf 'disease' + 'Gitelman syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' + 'Gitelman syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_79174 Label: Disorder of fatty acid oxidation and ketone body metabolism - 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'group of phenome' + 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79171 Label: Disorder of cobalamin metabolism and transport - 'Disorder of cobalamin metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of cobalamin metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79172 Label: Disorder of creatine biosynthesis - 'Disorder of creatine biosynthesis' SubClassOf 'group of phenome' + 'Disorder of creatine biosynthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_359 Label: Hereditary glaucoma - 'Hereditary glaucoma' SubClassOf 'group of phenome' + 'Hereditary glaucoma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309450 Label: Disorder of O-xylosylglycan synthesis - 'Disorder of O-xylosylglycan synthesis' SubClassOf 'group of phenome' + 'Disorder of O-xylosylglycan synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309458 Label: Disorder of O-N-acetylgalactosaminylglycan synthesis - 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of phenome' + 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79168 Label: Disorder of bile acid synthesis - 'Disorder of bile acid synthesis' SubClassOf 'group of phenome' + 'Disorder of bile acid synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79169 Label: Disorder of neurotransmitter metabolism and transport - 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_70567 Label: Cholangiocarcinoma - 'Cholangiocarcinoma' SubClassOf 'disease' + 'Cholangiocarcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_101107 Label: Spinocerebellar ataxia type 22 - 'Spinocerebellar ataxia type 22' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101109 Label: Spinocerebellar ataxia type 28 - 'Spinocerebellar ataxia type 28' SubClassOf 'disease' + 'Spinocerebellar ataxia type 28' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79161 Label: Disorder of carbohydrate metabolism - 'Disorder of carbohydrate metabolism' SubClassOf 'group of phenome' + 'Disorder of carbohydrate metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_369 Label: Glycogen storage disease due to liver glycogen phosphorylase deficiency - 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_368 Label: Glycogen storage disease due to muscle glycogen phosphorylase deficiency - 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79163 Label: Classic organic aciduria - 'Classic organic aciduria' SubClassOf 'group of phenome' + 'Classic organic aciduria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_367 Label: Glycogen storage disease due to glycogen branching enzyme deficiency - 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_366 Label: Glycogen storage disease due to glycogen debranching enzyme deficiency - 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_365 Label: Glycogen storage disease due to acid maltase deficiency - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79166 Label: Disorder of amino acid absorption and transport - 'Disorder of amino acid absorption and transport' SubClassOf 'group of phenome' + 'Disorder of amino acid absorption and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_364 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency - 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79167 Label: Disorder of urea cycle metabolism and ammonia detoxification - 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'group of phenome' + 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309463 Label: Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of phenome' + 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79159 Label: Isobutyryl-CoA dehydrogenase deficiency - 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_371 Label: Glycogen storage disease due to muscle phosphofructokinase deficiency - 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79157 Label: 2-methylbutyryl-CoA dehydrogenase deficiency - '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' + '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309469 Label: Disorder of O-mannosylglycan synthesis - 'Disorder of O-mannosylglycan synthesis' SubClassOf 'group of phenome' + 'Disorder of O-mannosylglycan synthesis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79158 Label: Cerebral organic aciduria - 'Cerebral organic aciduria' SubClassOf 'group of phenome' + 'Cerebral organic aciduria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_370 Label: Glycogen storage disease due to phosphorylase kinase deficiency - 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'group of phenome' + 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79155 Label: Encephalopathy due to hydroxykynureninuria - 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'disease' + 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79156 Label: Seizures - intellectual deficit due to hydroxylysinuria - 'Seizures - intellectual deficit due to hydroxylysinuria' SubClassOf 'disease' + 'Seizures - intellectual deficit due to hydroxylysinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79154 Label: 2-aminoadipic 2-oxoadipic aciduria - '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'disease' + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263516 Label: Progressive myoclonic epilepsy type 3 - 'Progressive myoclonic epilepsy type 3' SubClassOf 'disease' + 'Progressive myoclonic epilepsy type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88938 Label: Pseudohypoaldosteronism type 2A - 'Pseudohypoaldosteronism type 2A' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_88939 Label: Pseudohypoaldosteronism type 2B - 'Pseudohypoaldosteronism type 2B' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_289307 Label: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'disease' + 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88940 Label: Pseudohypoaldosteronism type 2C - 'Pseudohypoaldosteronism type 2C' SubClassOf 'etiological subtype' + 'Pseudohypoaldosteronism type 2C' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_121626 Label: electron-transferring-flavoprotein dehydrogenase - 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 2' + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394529 + 'electron-transferring-flavoprotein dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394532 Class: http://www.orpha.net/ORDO/Orphanet_121619 Label: electron-transfer-flavoprotein, alpha polypeptide - 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 2' + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394529 + 'electron-transfer-flavoprotein, alpha polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394532 Class: http://www.orpha.net/ORDO/Orphanet_121624 Label: electron-transfer-flavoprotein, beta polypeptide - 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Glutaric acidemia type 2' + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394532 + 'electron-transfer-flavoprotein, beta polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_394529 Class: http://www.orpha.net/ORDO/Orphanet_169079 Label: Cernunnos-XLF deficiency - 'Cernunnos-XLF deficiency' SubClassOf 'etiological subtype' + 'Cernunnos-XLF deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79194 Label: Disorder of serine or glycine metabolism - 'Disorder of serine or glycine metabolism' SubClassOf 'group of phenome' + 'Disorder of serine or glycine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79193 Label: Disorder of pyrimidine metabolism - 'Disorder of pyrimidine metabolism' SubClassOf 'group of phenome' + 'Disorder of pyrimidine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79196 Label: Disorder of the gamma-glutamyl cycle - 'Disorder of the gamma-glutamyl cycle' SubClassOf 'group of phenome' + 'Disorder of the gamma-glutamyl cycle' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79195 Label: Sterol biosynthesis disorder - 'Sterol biosynthesis disorder' SubClassOf 'group of phenome' + 'Sterol biosynthesis disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79197 Label: Disorder of branched-chain amino acid metabolism - 'Disorder of branched-chain amino acid metabolism' SubClassOf 'group of phenome' + 'Disorder of branched-chain amino acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79190 Label: Disorder of phenylalanin or tyrosine metabolism - 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'group of phenome' + 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79191 Label: Disorder of purine metabolism - 'Disorder of purine metabolism' SubClassOf 'group of phenome' + 'Disorder of purine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79192 Label: Disorder of pyridoxine metabolism - 'Disorder of pyridoxine metabolism' SubClassOf 'group of phenome' + 'Disorder of pyridoxine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_300895 Label: ALK-positive anaplastic large cell lymphoma + 'ALK-positive anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_276212 Label: Mucopolysaccharidosis type 6, rapidly progressing - 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_300865 Label: Primary cutaneous anaplastic large cell lymphoma + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_prevalence' some 'Unknown' + 'Primary cutaneous anaplastic large cell lymphoma' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_276223 Label: Mucopolysaccharidosis type 6, slowly progressing - 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_209902 Label: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'disease' + 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_199285 Label: Hereditary hypercarotenemia and vitamin A deficiency - 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disease' + 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163631 Label: Bile acid synthesis defect with cholestasis and malabsorption - 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'group of phenome' + 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_28378 Label: Tyrosinemia type 2 - 'Tyrosinemia type 2' SubClassOf 'disease' + 'Tyrosinemia type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119821 Label: atlastin GTPase 1 - 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'atlastin GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' Class: http://www.orpha.net/ORDO/Orphanet_370114 Label: Combined cervical dystonia - 'Combined cervical dystonia' SubClassOf 'part_of' some 'Combined dystonia' + 'Combined cervical dystonia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_121671 Label: coagulation factor II (thrombin) + 'coagulation factor II (thrombin)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' Class: http://www.orpha.net/ORDO/Orphanet_121673 Label: coagulation factor V (proaccelerin, labile factor) + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391320 + 'coagulation factor V (proaccelerin, labile factor)' SubClassOf 'Major susceptibility factor in' some 'Cerebral sinovenous thrombosis' Class: http://www.orpha.net/ORDO/Orphanet_370106 Label: Rare disorder with dystonia and other neurologic or systemic manifestation + 'Rare disorder with dystonia and other neurologic or systemic manifestation' SubClassOf http://www.orpha.net/ORDO/Orphanet_391799 Class: http://www.orpha.net/ORDO/Orphanet_370109 Label: Ataxia-telangiectasia variant - 'Ataxia-telangiectasia variant' SubClassOf 'part_of' some 'Combined dystonia' + 'Ataxia-telangiectasia variant' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_293284 Label: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'clinical subtype' + 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_250977 Label: AICA-ribosiduria - 'AICA-ribosiduria' SubClassOf 'disease' + 'AICA-ribosiduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_431 Label: Ichthyosis - male hypogonadism - 'Ichthyosis - male hypogonadism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101039 Label: Female restricted epilepsy with intellectual deficit - 'Female restricted epilepsy with intellectual deficit' SubClassOf 'clinical subtype' + 'Female restricted epilepsy with intellectual deficit' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_425 Label: Apolipoprotein A-I deficiency - 'Apolipoprotein A-I deficiency' SubClassOf 'disease' + 'Apolipoprotein A-I deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_357034 Label: Unilateral retinoblastoma - 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' - 'Unilateral retinoblastoma' SubClassOf 'disease' + 'Unilateral retinoblastoma' SubClassOf 'part_of' some 'Retinoblastoma' + 'Unilateral retinoblastoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_120598 Label: zinc finger protein, FOG family member 2 - 'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' + 'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital diaphragmatic hernia' Class: http://www.orpha.net/ORDO/Orphanet_416 Label: Primary hyperoxaluria - 'Primary hyperoxaluria' SubClassOf 'disease' + 'Primary hyperoxaluria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_419 Label: Hyperprolinemia type 1 - 'Hyperprolinemia type 1' SubClassOf 'disease' + 'Hyperprolinemia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_418 Label: Congenital adrenal hyperplasia - 'Congenital adrenal hyperplasia' SubClassOf 'part_of' some 'Rare endocrine growth disease' - 'Congenital adrenal hyperplasia' SubClassOf 'disease' - 'Congenital adrenal hyperplasia' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency' - 'Congenital adrenal hyperplasia' SubClassOf 'part_of' some 'Adrenogenital syndrome' + 'Congenital adrenal hyperplasia' SubClassOf 'Rare endocrine growth disease' + 'Congenital adrenal hyperplasia' SubClassOf 'group of phenome' + 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' + 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' Class: http://www.orpha.net/ORDO/Orphanet_453 Label: IBIDS syndrome - 'IBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_357027 Label: Familial retinoblastoma - 'Familial retinoblastoma' SubClassOf 'disease' - 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' + 'Familial retinoblastoma' SubClassOf 'part_of' some 'Retinoblastoma' + 'Familial retinoblastoma' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_449 Label: Hepatoblastoma - 'Hepatoblastoma' SubClassOf 'disease' + 'Hepatoblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_446 Label: Neonatal hemochromatosis - 'Neonatal hemochromatosis' SubClassOf 'disease' + 'Neonatal hemochromatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_448 Label: Hemophilia - 'Hemophilia' SubClassOf 'disease' - 'Hemophilia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Hemophilia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' + 'Hemophilia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_101028 Label: Transaldolase deficiency - 'Transaldolase deficiency' SubClassOf 'disease' + 'Transaldolase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79212 Label: Mucolipidosis - 'Mucolipidosis' SubClassOf 'group of phenome' + 'Mucolipidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_163684 Label: Leukoencephalopathy - dystonia - motor neuropathy - 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'disease' + 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79213 Label: Mucopolysaccharidosis - 'Mucopolysaccharidosis' SubClassOf 'group of phenome' + 'Mucopolysaccharidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79214 Label: Disorder of biogenic amine metabolism and transport - 'Disorder of biogenic amine metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of biogenic amine metabolism and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79215 Label: Oligosaccharidosis - 'Oligosaccharidosis' SubClassOf 'group of phenome' + 'Oligosaccharidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79219 Label: Metabolic disease involving other neurotransmitter deficiency - 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'group of phenome' + 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79211 Label: Mixed hyperlipidemia - 'Mixed hyperlipidemia' SubClassOf 'group of phenome' + 'Mixed hyperlipidemia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_119882 Label: signal transducer and activator of transcription 5B + 'signal transducer and activator of transcription 5B' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_171848 Label: Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract - 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'disease' + 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79225 Label: Sphingolipidosis - 'Sphingolipidosis' SubClassOf 'group of phenome' + 'Sphingolipidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79226 Label: Sterol metabolism disorder - 'Sterol metabolism disorder' SubClassOf 'group of phenome' + 'Sterol metabolism disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_163673 Label: Spondyloepiphyseal dysplasia, Byers type - 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79224 Label: Disorder of purine or pyrimidine metabolism - 'Disorder of purine or pyrimidine metabolism' SubClassOf 'group of phenome' + 'Disorder of purine or pyrimidine metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_119879 Label: signal transducer and activator of transcription 1, 91kDa + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391311 Class: http://www.orpha.net/ORDO/Orphanet_171851 Label: MEDNIK syndrome + 'MEDNIK syndrome' SubClassOf 'part_of' some 'Disorder of copper metabolism' Class: http://www.orpha.net/ORDO/Orphanet_357074 Label: Autosomal recessive cutis laxa type 2, classic type - 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'clinical subtype' - 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' + 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'clinical subtype' + 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'part_of' some 'Autosomal recessive cutis laxa type 2A' Class: http://www.orpha.net/ORDO/Orphanet_357064 Label: Autosomal recessive cutis laxa type 2B - 'Autosomal recessive cutis laxa type 2B' SubClassOf 'clinical subtype' + 'Autosomal recessive cutis laxa type 2B' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247525 Label: Citrullinemia type I - 'Citrullinemia type I' SubClassOf 'disease' + 'Citrullinemia type I' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_411 Label: Hyperlipoproteinemia type 1 - 'Hyperlipoproteinemia type 1' SubClassOf 'disease' + 'Hyperlipoproteinemia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119862 Label: sushi-repeat containing protein, X-linked 2 - 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral perisylvian polymicrogyria' + 'sushi-repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Bilateral perisylvian polymicrogyria' Class: http://www.orpha.net/ORDO/Orphanet_289290 Label: Hypermethioninemia encephalopathy due to adenosine kinase deficiency - 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'disease' + 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119860 Label: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) - 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)' SubClassOf 'Candidate gene tested in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_415 Label: Hyperornithinemia-hyperammonemia-homocitrullinuria - 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'disease' + 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_414 Label: Gyrate atrophy of choroid and retina - 'Gyrate atrophy of choroid and retina' SubClassOf 'disease' + 'Gyrate atrophy of choroid and retina' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_413 Label: Hyperlipoproteinemia type 4 - 'Hyperlipoproteinemia type 4' SubClassOf 'disease' + 'Hyperlipoproteinemia type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119865 Label: sex determining region Y - 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' + 'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_412 Label: Hyperlipidemia type 3 - 'Hyperlipidemia type 3' SubClassOf 'disease' - 'Hyperlipidemia type 3' SubClassOf 'has_prevalence' some '1-9 / 100 000' - 'Hyperlipidemia type 3' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Hyperlipidemia type 3' SubClassOf 'disease' + 'Hyperlipidemia type 3' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Hyperlipidemia type 3' SubClassOf 'has_prevalence' some '1-5 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_407 Label: Glycine encephalopathy - 'Glycine encephalopathy' SubClassOf 'disease' + 'Glycine encephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_408 Label: Isolated glycerol kinase deficiency - 'Isolated glycerol kinase deficiency' SubClassOf 'disease' + 'Isolated glycerol kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79207 Label: Disorder of lysosomal amino acid transport - 'Disorder of lysosomal amino acid transport' SubClassOf 'group of phenome' + 'Disorder of lysosomal amino acid transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_357058 Label: Autosomal recessive cutis laxa type 2A - 'Autosomal recessive cutis laxa type 2A' SubClassOf 'clinical subtype' + 'Autosomal recessive cutis laxa type 2A' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_163693 Label: 2p21 microdeletion syndrome - '2p21 microdeletion syndrome' SubClassOf 'disease' + '2p21 microdeletion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79204 Label: Lipid storage disease - 'Lipid storage disease' SubClassOf 'group of phenome' + 'Lipid storage disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79201 Label: Glycogen storage disease - 'Glycogen storage disease' SubClassOf 'group of phenome' + 'Glycogen storage disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79200 Label: Disorder of energy metabolism - 'Disorder of energy metabolism' SubClassOf 'group of phenome' + 'Disorder of energy metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_163690 Label: Hypotonia - cystinuria syndrome - 'Hypotonia - cystinuria syndrome' SubClassOf 'disease' + 'Hypotonia - cystinuria syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119854 Label: serine palmitoyltransferase, long chain base subunit 1 - 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'serine palmitoyltransferase, long chain base subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' Class: http://www.orpha.net/ORDO/Orphanet_87876 Label: Sialidosis type 2 - 'Sialidosis type 2' SubClassOf 'disease' + 'Sialidosis type 2' SubClassOf 'disease' + 'Sialidosis type 2' SubClassOf 'part_of' some 'Metabolic disease with cataract' Class: http://www.orpha.net/ORDO/Orphanet_231500 Label: Hermansky-Pudlak syndrome with pulmonary fibrosis - 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306727 Label: Postinfectious autoimmune disease with chorea - 'Postinfectious autoimmune disease with chorea' SubClassOf 'group of phenome' + 'Postinfectious autoimmune disease with chorea' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_487 Label: Krabbe disease - 'Krabbe disease' SubClassOf 'disease' + 'Krabbe disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_239943 Label: TBC1 domain family, member 24 + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_480 Label: Kearns-Sayre syndrome - 'Kearns-Sayre syndrome' SubClassOf 'disease' + 'Kearns-Sayre syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231512 Label: Hermansky-Pudlak syndrome without pulmonary fibrosis - 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_496 Label: Thost-Unna palmoplantar keratoderma - 'Thost-Unna palmoplantar keratoderma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_270026 Label: DNA (cytosine-5-)-methyltransferase 1 - 'DNA (cytosine-5-)-methyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' Class: http://www.orpha.net/ORDO/Orphanet_495 Label: Transgrediens et progrediens palmoplantar keratoderma - 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'disease' + 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306734 Label: Primary dystonia, DYT21 type - 'Primary dystonia, DYT21 type' SubClassOf 'disease' + 'Primary dystonia, DYT21 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_494 Label: Keratoderma hereditarium mutilans - 'Keratoderma hereditarium mutilans' SubClassOf 'disease' + 'Keratoderma hereditarium mutilans' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306731 Label: Sydenham chorea - 'Sydenham chorea' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Sydenham chorea' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306747 Label: Rare myoclonus - 'Rare myoclonus' SubClassOf 'group of phenome' + 'Rare myoclonus' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_469 Label: Hereditary fructose intolerance - 'Hereditary fructose intolerance' SubClassOf 'disease' + 'Hereditary fructose intolerance' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306741 Label: Hemidystonia-hemiatrophy syndrome - 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'disease' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'disease' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hemidystonia-hemiatrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_309796 Label: Rhizomelic chondrodysplasia punctata type 2 - 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'etiological subtype' + 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_286610 Label: membrane associated guanylate kinase, WW and PDZ domain containing 2 - 'membrane associated guanylate kinase, WW and PDZ domain containing 2' SubClassOf 'gene' - 'membrane associated guanylate kinase, WW and PDZ domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99329 Label: 48,XYYY syndrome - '48,XYYY syndrome' SubClassOf 'clinical subtype' + '48,XYYY syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306759 Label: Non progressive epilepsy and/or ataxia with myoclonus as a major feature - 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of phenome' + 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_477 Label: KID syndrome - 'KID syndrome' SubClassOf 'disease' + 'KID syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306750 Label: Primary myoclonus - 'Primary myoclonus' SubClassOf 'group of phenome' + 'Primary myoclonus' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306753 Label: Rare disease with myoclonus as a major feature - 'Rare disease with myoclonus as a major feature' SubClassOf 'group of phenome' + 'Rare disease with myoclonus as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_470 Label: Lysinuric protein intolerance - 'Lysinuric protein intolerance' SubClassOf 'disease' + 'Lysinuric protein intolerance' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306756 Label: Epilepsy and/or ataxia with myoclonus as major feature - 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'group of phenome' + 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_99330 Label: 49,XYYYY syndrome - '49,XYYYY syndrome' SubClassOf 'clinical subtype' + '49,XYYYY syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309778 Label: Defect in V-ATPase - 'Defect in V-ATPase' SubClassOf 'group of phenome' + 'Defect in V-ATPase' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_376724 Label: Generalized isolated dystonia - 'Generalized isolated dystonia' SubClassOf 'group of phenome' + 'Generalized isolated dystonia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_137754 Label: Neurological conditions associated with aminoacylase 1 deficiency - 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'disease' + 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309789 Label: Rhizomelic chondrodysplasia punctata type 1 - 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'etiological subtype' + 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_247798 Label: MUTYH-related attenuated familial adenomatous polyposis + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_247794 Label: Juvenile cataract - microcornea - renal glucosuria - 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'disease' + 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306708 Label: Frontotemporal neurodegeneration with movement disorder - 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'group of phenome' + 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_247790 Label: FTH1-related iron overload - 'FTH1-related iron overload' SubClassOf 'disease' + 'FTH1-related iron overload' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_36899 Label: Myoclonus-dystonia syndrome - 'Myoclonus-dystonia syndrome' SubClassOf 'part_of' some 'Combined dystonia' + 'Myoclonus-dystonia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_306712 Label: Rare tremor disorder - 'Rare tremor disorder' SubClassOf 'group of phenome' + 'Rare tremor disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306715 Label: Rare choreic movement disorder - 'Rare choreic movement disorder' SubClassOf 'group of phenome' + 'Rare choreic movement disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306719 Label: Neurodegenerative disease with chorea - 'Neurodegenerative disease with chorea' SubClassOf 'group of phenome' + 'Neurodegenerative disease with chorea' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_300751 Label: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease' + 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_26793 Label: Very long chain acyl-CoA dehydrogenase deficiency - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_26791 Label: Glutaric acidemia type 2 - 'Glutaric acidemia type 2' SubClassOf 'disease' - 'Glutaric acidemia type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Glutaric acidemia type 2' SubClassOf 'has_prevalence' some 'Unknown' + 'Glutaric acidemia type 2' SubClassOf 'disease' + 'Glutaric acidemia type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glutaric acidemia type 2' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_26792 Label: Short chain acyl-CoA dehydrogenase deficiency - 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352504 Label: Levodopa-unresponsive juvenile parkinsonism - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'disease' - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Levodopa-unresponsive juvenile parkinsonism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_123982 Label: oral-facial-digital syndrome 1 - 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'oral-facial-digital syndrome 1' SubClassOf 'Candidate gene tested in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_118344 Label: ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) - 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_353217 Label: Epileptic encephalopathy with global cerebral demyelination - 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'disease' + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98203 Label: Combined dystonia + 'Combined dystonia' SubClassOf http://www.orpha.net/ORDO/Orphanet_391799 Class: http://www.orpha.net/ORDO/Orphanet_264580 Label: Glycogen storage disease due to liver phosphorylase kinase deficiency - 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122499 Label: Harvey rat sarcoma viral oncogene homolog - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' Class: http://www.orpha.net/ORDO/Orphanet_244400 Label: serine palmitoyltransferase, long chain base subunit 2 - 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'serine palmitoyltransferase, long chain base subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' Class: http://www.orpha.net/ORDO/Orphanet_243343 Label: Dimethylglycine dehydrogenase deficiency - 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'disease' + 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_169446 Label: Autosomal recessive hyper-IgE syndrome - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'disease' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' + 'Autosomal recessive hyper-IgE syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_169443 Label: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells - 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'part_of' some 'Immunodeficiency predominantly affecting antibody production' - 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'disease' + 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' + 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_88639 Label: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'disease' + 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88636 Label: Aortic dilatation - joint hypermobility - arterial tortuosity - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'disease' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare genetic vascular disease' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare vascular disease' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' - 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_308166 Label: Erythrokeratoderma variabilis progressiva - 'Erythrokeratoderma variabilis progressiva' SubClassOf 'group of phenome' + 'Erythrokeratoderma variabilis progressiva' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_247806 Label: APC-related attenuated familial adenomatous polyposis + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_46059 Label: Lathosterolosis - 'Lathosterolosis' SubClassOf 'disease' + 'Lathosterolosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352563 Label: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'disease' + 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88618 Label: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency - 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'disease' + 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65287 Label: Beta-ureidopropionase deficiency - 'Beta-ureidopropionase deficiency' SubClassOf 'disease' + 'Beta-ureidopropionase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65282 Label: Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome - 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'disease' + 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65284 Label: Biotin-responsive basal ganglia disease - 'Biotin-responsive basal ganglia disease' SubClassOf 'disease' + 'Biotin-responsive basal ganglia disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329469 Label: Acute megakaryoblastic leukemia without Down syndrome - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'Acute megakaryoblastic leukemia' - 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'disease' + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'clinical subtype' + 'Acute megakaryoblastic leukemia without Down syndrome' SubClassOf 'part_of' some 'Acute megakaryoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_169464 Label: Primary CD59 deficiency + 'Primary CD59 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_88673 Label: Hepatocellular carcinoma - 'Hepatocellular carcinoma' SubClassOf 'disease' + 'Hepatocellular carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123937 Label: nuclear receptor binding SET domain protein 1 - 'nuclear receptor binding SET domain protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Weaver syndrome' + 'nuclear receptor binding SET domain protein 1' SubClassOf 'Candidate gene tested in' some 'Weaver syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118381 Label: retinitis pigmentosa GTPase regulator - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Candidate gene tested in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_137681 Label: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 - 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'disease' + 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_528 Label: Berardinelli-Seip congenital lipodystrophy - 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disease' + 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_534 Label: Oculocerebrorenal syndrome - 'Oculocerebrorenal syndrome' SubClassOf 'malformation syndrome' + 'Oculocerebrorenal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52428 Label: Congenital muscular dystrophy type 1C - 'Congenital muscular dystrophy type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_525 Label: Lichen planopilaris + 'Lichen planopilaris' SubClassOf 'part_of' some 'Alopecia' Class: http://www.orpha.net/ORDO/Orphanet_119735 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 - 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 3' + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_52430 Label: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'disease' + 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_91483 Label: Rieger anomaly - 'Rieger anomaly' SubClassOf 'part_of' some 'Nonsyndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_506 Label: Leigh syndrome - 'Leigh syndrome' SubClassOf 'group of phenome' + 'Leigh syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_505 Label: Graham Little-Piccardi-Lassueur syndrome - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'part_of' some 'Lichen planopilaris' - 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'clinical subtype' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'part_of' some 'Rare cutaneous lichen planus' + 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_512 Label: Metachromatic leukodystrophy - 'Metachromatic leukodystrophy' SubClassOf 'disease' + 'Metachromatic leukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_511 Label: Maple syrup urine disease - 'Maple syrup urine disease' SubClassOf 'disease' + 'Maple syrup urine disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_510 Label: Lesch-Nyhan syndrome - 'Lesch-Nyhan syndrome' SubClassOf 'disease' + 'Lesch-Nyhan syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_329481 Label: Lipoprotein glomerulopathy - 'Lipoprotein glomerulopathy' SubClassOf 'disease' + 'Lipoprotein glomerulopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_238475 Label: Familial hypercholanemia - 'Familial hypercholanemia' SubClassOf 'disease' + 'Familial hypercholanemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_275543 Label: L1 syndrome - 'L1 syndrome' SubClassOf 'malformation syndrome' + 'L1 syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166457 Label: Other forms of non-paraneoplastic limbic encephalitis - 'Other forms of non-paraneoplastic limbic encephalitis' SubClassOf 'Non-paraneoplastic limbic encephalitis' - 'Other forms of non-paraneoplastic limbic encephalitis' SubClassOf 'group of phenome' + 'Other forms of non-paraneoplastic limbic encephalitis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_306773 Label: Hyperekplexia - 'Hyperekplexia' SubClassOf 'group of phenome' + 'Hyperekplexia' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306776 Label: Sporadic hyperekplexia - 'Sporadic hyperekplexia' SubClassOf 'disease' + 'Sporadic hyperekplexia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_576 Label: Mucolipidosis type 2 - 'Mucolipidosis type 2' SubClassOf 'disease' + 'Mucolipidosis type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_579 Label: Mucopolysaccharidosis type 1 - 'Mucopolysaccharidosis type 1' SubClassOf 'disease' + 'Mucopolysaccharidosis type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_577 Label: Mucolipidosis type 3 - 'Mucolipidosis type 3' SubClassOf 'disease' + 'Mucolipidosis type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_578 Label: Mucolipidosis type 4 - 'Mucolipidosis type 4' SubClassOf 'disease' + 'Mucolipidosis type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231537 Label: Hermansky-Pudlak syndrome type 8 - 'Hermansky-Pudlak syndrome type 8' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 8' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_306762 Label: Progressive epilepsy and/or ataxia with myoclonus as a major feature - 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of phenome' + 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_238459 Label: SLC35A1-CDG - 'SLC35A1-CDG' SubClassOf 'disease' + 'SLC35A1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306765 Label: Motor stereotypies - 'Motor stereotypies' SubClassOf 'group of phenome' + 'Motor stereotypies' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_306768 Label: Rare paroxysmal movement disorder - 'Rare paroxysmal movement disorder' SubClassOf 'group of phenome' + 'Rare paroxysmal movement disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_330759 Label: calmodulin 2 (phosphorylase kinase, delta) - 'calmodulin 2 (phosphorylase kinase, delta)' SubClassOf 'gene' - 'calmodulin 2 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_565 Label: Menkes disease - 'Menkes disease' SubClassOf 'disease' + 'Menkes disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_43115 Label: Hereditary myopathy with lactic acidosis due to ISCU deficiency - 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'disease' + 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_238455 Label: Infantile dystonia-parkinsonism - 'Infantile dystonia-parkinsonism' SubClassOf 'part_of' some 'Combined dystonia' + 'Infantile dystonia-parkinsonism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_231527 Label: phosphatidylinositol glycan anchor biosynthesis, class A + 'phosphatidylinositol glycan anchor biosynthesis, class A' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_550 Label: MELAS syndrome - 'MELAS syndrome' SubClassOf 'disease' + 'MELAS syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_558 Label: Marfan syndrome - 'Marfan syndrome' SubClassOf 'malformation syndrome' + 'Marfan syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_551 Label: MERRF syndrome - 'MERRF syndrome' SubClassOf 'disease' + 'MERRF syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_231531 Label: Hermansky-Pudlak syndrome type 7 - 'Hermansky-Pudlak syndrome type 7' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 7' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_119792 Label: SRY (sex determining region Y)-box 9 - 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' + 'SRY (sex determining region Y)-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XX ovotesticular disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_583 Label: Mucopolysaccharidosis type 6 - 'Mucopolysaccharidosis type 6' SubClassOf 'disease' + 'Mucopolysaccharidosis type 6' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_582 Label: Mucopolysaccharidosis type 4 - 'Mucopolysaccharidosis type 4' SubClassOf 'disease' + 'Mucopolysaccharidosis type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_581 Label: Mucopolysaccharidosis type 3 - 'Mucopolysaccharidosis type 3' SubClassOf 'disease' + 'Mucopolysaccharidosis type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_580 Label: Mucopolysaccharidosis type 2 - 'Mucopolysaccharidosis type 2' SubClassOf 'disease' + 'Mucopolysaccharidosis type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_585 Label: Multiple sulfatase deficiency - 'Multiple sulfatase deficiency' SubClassOf 'disease' + 'Multiple sulfatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_584 Label: Mucopolysaccharidosis type 7 - 'Mucopolysaccharidosis type 7' SubClassOf 'disease' + 'Mucopolysaccharidosis type 7' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_588 Label: Muscle-eye-brain disease - 'Muscle-eye-brain disease' SubClassOf 'disease' + 'Muscle-eye-brain disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137862 Label: Martinez-Frias syndrome - 'Martinez-Frias syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_137839 Label: Lemierre syndrome - 'Lemierre syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Lemierre syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_101330 Label: Porphyria cutanea tarda - 'Porphyria cutanea tarda' SubClassOf 'disease' + 'Porphyria cutanea tarda' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289573 Label: Fatal multiple mitochondrial dysfunction syndrome - 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'disease' + 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_276066 Label: Bile acid CoA ligase deficiency and defective amidation - 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'disease' + 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137898 Label: Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation - 'Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation' SubClassOf 'disease' + 'Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122515 Label: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 - 'hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_122511 Label: hydroxysteroid (17-beta) dehydrogenase 3 - 'hydroxysteroid (17-beta) dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_122504 Label: hydroxysteroid (17-beta) dehydrogenase 10 - 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391457 + 'hydroxysteroid (17-beta) dehydrogenase 10' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391428 Class: http://www.orpha.net/ORDO/Orphanet_289504 Label: Combined malonic and methylmalonic acidemia - 'Combined malonic and methylmalonic acidemia' SubClassOf 'disease' + 'Combined malonic and methylmalonic acidemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_327338 Label: ALG13, UDP-N-acetylglucosaminyltransferase subunit + 'ALG13, UDP-N-acetylglucosaminyltransferase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual deficit' Class: http://www.orpha.net/ORDO/Orphanet_121815 Label: fibroblast growth factor receptor 3 - 'fibroblast growth factor receptor 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cloverleaf skull syndrome' + 'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Isolated cloverleaf skull syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118449 Label: S-antigen; retina and pineal gland (arrestin) + 'S-antigen; retina and pineal gland (arrestin)' SubClassOf 'Candidate gene tested in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_118443 Label: ryanodine receptor 2 (cardiac) - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'ryanodine receptor 2 (cardiac)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_36386 Label: Hereditary sensory and autonomic neuropathy type 1 - 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118423 Label: runt-related transcription factor 1 + 'runt-related transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' Class: http://www.orpha.net/ORDO/Orphanet_53693 Label: GRACILE syndrome - 'GRACILE syndrome' SubClassOf 'disease' + 'GRACILE syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_118437 Label: ryanodine receptor 1 (skeletal) - 'ryanodine receptor 1 (skeletal)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant hyperthermia' + 'ryanodine receptor 1 (skeletal)' SubClassOf 'Major susceptibility factor in' some 'Malignant hyperthermia' Class: http://www.orpha.net/ORDO/Orphanet_53690 Label: Congenital lactase deficiency - 'Congenital lactase deficiency' SubClassOf 'disease' + 'Congenital lactase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_289527 Label: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency - 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'disease' + 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98356 Label: Autosomal recessive isolated diffuse palmoplantar keratoderma - 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_98357 Label: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_98352 Label: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_98353 Label: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_98349 Label: Autosomal dominant isolated diffuse palmoplantar keratoderma - 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_121846 Label: Fli-1 proto-oncogene, ETS transcription factor + 'Fli-1 proto-oncogene, ETS transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated delta-storage pool disease' Class: http://www.orpha.net/ORDO/Orphanet_352456 Label: Mitochondrial DNA maintenance syndrome - 'Mitochondrial DNA maintenance syndrome' SubClassOf 'group of phenome' + 'Mitochondrial DNA maintenance syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308031 Label: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352447 Label: Progressive external ophthalmoplegia - myopathy - emaciation - 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'disease' + 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_308023 Label: Disease with punctate palmoplantar keratoderma as a major feature - 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352470 Label: Mitochondrial DNA deletion syndrome with progressive myopathy - 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'disease' + 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_68373 Label: Peroxisomal disease - 'Peroxisomal disease' SubClassOf 'group of phenome' + 'Peroxisomal disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_352479 Label: Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency - 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121891 Label: forkhead box C2 (MFH-1, mesenchyme forkhead 1) - 'forkhead box C2 (MFH-1, mesenchyme forkhead 1)' SubClassOf 'Candidate gene tested in' some 'Yellow nail syndrome' Class: http://www.orpha.net/ORDO/Orphanet_68363 Label: Rare dystonia - 'Rare dystonia' SubClassOf 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_68366 Label: Lysosomal disease - 'Lysosomal disease' SubClassOf 'group of phenome' + 'Lysosomal disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_68367 Label: Inborn errors of metabolism - 'Inborn errors of metabolism' SubClassOf 'group of phenome' + 'Inborn errors of metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_308041 Label: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' + 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_68380 Label: Mitochondrial disease - 'Mitochondrial disease' SubClassOf 'group of phenome' + 'Mitochondrial disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_118498 Label: sodium channel, voltage-gated, type I, beta subunit - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Major susceptibility factor in' some 'Familial atrial fibrillation' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_364063 Label: Infantile epileptic-dyskinetic encephalopathy - 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'part_of' some 'Combined dystonia' + 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_97295 Label: Furlong syndrome - 'Furlong syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_602 Label: Distal myopathy, Nonaka type - 'Distal myopathy, Nonaka type' SubClassOf 'disease' + 'Distal myopathy, Nonaka type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119647 Label: ALX homeobox 4 - 'ALX homeobox 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_369810 Label: leucine-zipper-like transcription regulator 1 + 'leucine-zipper-like transcription regulator 1' SubClassOf 'Major susceptibility factor in' some 'Neurofibromatosis type 3' Class: http://www.orpha.net/ORDO/Orphanet_91352 Label: Germinoma of the central nervous system - 'Germinoma of the central nervous system' SubClassOf 'clinical subtype' - 'Germinoma of the central nervous system' SubClassOf 'part_of' some 'Extragonadal germinoma' + 'Germinoma of the central nervous system' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_622 Label: Homocystinuria without methylmalonic aciduria - 'Homocystinuria without methylmalonic aciduria' SubClassOf 'disease' + 'Homocystinuria without methylmalonic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_623 Label: NAME syndrome - 'NAME syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_648 Label: Noonan syndrome - 'Noonan syndrome' SubClassOf 'malformation syndrome' + 'Noonan syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_310050 Label: Acquired immunodeficiency - 'Acquired immunodeficiency' SubClassOf 'group of phenome' + 'Acquired immunodeficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_650 Label: LCAT deficiency - 'LCAT deficiency' SubClassOf 'disease' + 'LCAT deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_638 Label: Neurofibromatosis - Noonan syndrome - 'Neurofibromatosis - Noonan syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_30924 Label: Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia - 'Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia' SubClassOf 'disease' - 'Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_644 Label: NARP syndrome - 'NARP syndrome' SubClassOf 'disease' + 'NARP syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_646 Label: Niemann-Pick disease type C - 'Niemann-Pick disease type C' SubClassOf 'disease' + 'Niemann-Pick disease type C' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_97234 Label: Glycogen storage disease due to phosphoglycerate mutase deficiency - 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_678 Label: Papillon-Lef�vre syndrome - 'Papillon-Lef�vre syndrome' SubClassOf 'disease' + 'Papillon-Lef�vre syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352497 Label: Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'disease' - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' - 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_672 Label: Pallister-Hall syndrome - 'Pallister-Hall syndrome' SubClassOf 'malformation syndrome' + 'Pallister-Hall syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_670 Label: PIBIDS syndrome - 'PIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_671 Label: Primary cutis verticis gyrata - 'Primary cutis verticis gyrata' SubClassOf 'part_of' some 'Unclassified dermis disorder' - 'Primary cutis verticis gyrata' SubClassOf 'malformation syndrome' + 'Primary cutis verticis gyrata' SubClassOf 'group of phenome' + 'Primary cutis verticis gyrata' SubClassOf 'Unclassified dermis disorder' Class: http://www.orpha.net/ORDO/Orphanet_238329 Label: Severe X-linked mitochondrial encephalomyopathy - 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'disease' + 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_659 Label: Mutilating palmoplantar keratoderma with periorificial keratotic plaques - 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'disease' + 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_662 Label: Yellow nail syndrome - 'Yellow nail syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Yellow nail syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Yellow nail syndrome' SubClassOf 'part_of' some 'Genetic interstitial lung disease' + 'Yellow nail syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Yellow nail syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_663 Label: Maternally-inherited progressive external ophthalmoplegia - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disease' + 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_664 Label: Ornithine transcarbamylase deficiency - 'Ornithine transcarbamylase deficiency' SubClassOf 'disease' + 'Ornithine transcarbamylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120326 Label: titin - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' Class: http://www.orpha.net/ORDO/Orphanet_699 Label: Pearson syndrome - 'Pearson syndrome' SubClassOf 'disease' + 'Pearson syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_52503 Label: X-linked creatine transporter deficiency - 'X-linked creatine transporter deficiency' SubClassOf 'disease' + 'X-linked creatine transporter deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_680 Label: Normokalemic periodic paralysis - 'Normokalemic periodic paralysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_53351 Label: X-linked dystonia-parkinsonism - 'X-linked dystonia-parkinsonism' SubClassOf 'part_of' some 'Combined dystonia' + 'X-linked dystonia-parkinsonism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 Class: http://www.orpha.net/ORDO/Orphanet_308013 Label: Focal acral hyperkeratosis - 'Focal acral hyperkeratosis' SubClassOf 'disease' + 'Focal acral hyperkeratosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_137908 Label: Hypotonia with lactic acidemia and hyperammonemia - 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'disease' + 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3315 Label: Thiopurine S-methyltransferase deficiency - 'Thiopurine S-methyltransferase deficiency' SubClassOf 'disease' + 'Thiopurine S-methyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3349 Label: Treft-Sanborn-Carey syndrome - 'Treft-Sanborn-Carey syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3350 Label: Tremor - nystagmus - duodenal ulcer - 'Tremor - nystagmus - duodenal ulcer' SubClassOf 'disease' + 'Tremor - nystagmus - duodenal ulcer' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98434 Label: Hereditary combined deficiency of vitamin K-dependent clotting factors - 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'disease' + 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140905 Label: Hyperlipidemia due to hepatic triglyceride lipase deficiency - 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'disease' + 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3328 Label: Absent tibia - polydactyly - arachnoid cyst - 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'malformation syndrome' + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_71277 Label: Encephalopathy due to GLUT1 deficiency - 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'disease' + 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_71278 Label: Congenital brain dysgenesis due to glutamine synthetase deficiency - 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disease' + 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3333 Label: Connective tissue dysplasia, Spellacy type - 'Connective tissue dysplasia, Spellacy type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_293633 Label: PYCR1-related DeBarsy syndrome - 'PYCR1-related DeBarsy syndrome' SubClassOf 'etiological subtype' + 'PYCR1-related DeBarsy syndrome' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79474 Label: Atypical Werner syndrome - 'Atypical Werner syndrome' SubClassOf 'clinical subtype' + 'Atypical Werner syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79473 Label: Porphyria variegata - 'Porphyria variegata' SubClassOf 'disease' + 'Porphyria variegata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1831 Label: De Hauwere syndrome - 'De Hauwere syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1827 Label: Acromelic frontonasal dysplasia - 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome' - 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome' + 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_79482 Label: Cutis verticis gyrata - thyroid aplasia - intellectual deficit - 'Cutis verticis gyrata - thyroid aplasia - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1842 Label: Bone dysplasia, lethal Holmgren type - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'malformation syndrome' + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79492 Label: Pili gemini - 'Pili gemini' SubClassOf 'clinical subtype' - 'Pili gemini' SubClassOf 'part_of' some 'Pili bifurcati' + 'Pili gemini' SubClassOf 'disease' + 'Pili gemini' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_1848 Label: Bilateral renal agenesis + 'Bilateral renal agenesis' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_309108 Label: Pancreatic colipase deficiency - 'Pancreatic colipase deficiency' SubClassOf 'disease' + 'Pancreatic colipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_201171 Label: forkhead box P1 + 'forkhead box P1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_391372 Class: http://www.orpha.net/ORDO/Orphanet_71212 Label: Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency - 'Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' - 'Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_369897 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'part_of' some 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1803 Label: Thoracomelic dysplasia - 'Thoracomelic dysplasia' SubClassOf 'disease' + 'Thoracomelic dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1807 Label: Facial ectodermal dysplasia - 'Facial ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_292088 Label: teashirt zinc finger homeobox 1 - 'teashirt zinc finger homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microtia' + 'teashirt zinc finger homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'External auditory canal aplasia/hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_99912 Label: Malignant dysgerminomatous germ cell tumor - 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'part_of' some 'Extragonadal germinoma' - 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'clinical subtype' + 'Malignant dysgerminomatous germ cell tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263297 Label: Glycogen storage disease due to glycogenin deficiency - 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121185 Label: desmocollin 2 - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_309015 Label: Familial lipoprotein lipase deficiency - 'Familial lipoprotein lipase deficiency' SubClassOf 'clinical subtype' + 'Familial lipoprotein lipase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309028 Label: Disorder of lipid absorption and transport - 'Disorder of lipid absorption and transport' SubClassOf 'group of phenome' + 'Disorder of lipid absorption and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_99901 Label: Acyl-CoA dehydrogenase 9 deficiency - 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disease' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disease' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_99900 Label: Long chain acyl-CoA dehydrogenase deficiency - 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309025 Label: Mevalonate kinase deficiency - 'Mevalonate kinase deficiency' SubClassOf 'group of phenome' + 'Mevalonate kinase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_159968 Label: hyperparathyroidism 1 - 'hyperparathyroidism 1' SubClassOf 'gene' - 'hyperparathyroidism 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_168598 Label: Brain demyelination due to methionine adenosyltransferase deficiency - 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'disease' + 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79507 Label: Hypotonia - failure to thrive - microcephaly - 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'disease' + 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79506 Label: Cholesterol-ester transfer protein deficiency - 'Cholesterol-ester transfer protein deficiency' SubClassOf 'disease' + 'Cholesterol-ester transfer protein deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309020 Label: Familial apolipoprotein C-II deficiency - 'Familial apolipoprotein C-II deficiency' SubClassOf 'clinical subtype' + 'Familial apolipoprotein C-II deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_321640 Label: solute carrier family 52 (riboflavin transporter), member 1 - 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' + 'solute carrier family 52 (riboflavin transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_783 Label: Rubinstein-Taybi syndrome + 'Rubinstein-Taybi syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_168566 Label: Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 - 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'disease' + 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309005 Label: Disorder of lipid metabolism - 'Disorder of lipid metabolism' SubClassOf 'group of phenome' + 'Disorder of lipid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_292052 Label: homeobox B13 - 'homeobox B13' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' + 'homeobox B13' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_796 Label: Sandhoff disease - 'Sandhoff disease' SubClassOf 'disease' + 'Sandhoff disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_794 Label: Saethre-Chotzen syndrome - 'Saethre-Chotzen syndrome' SubClassOf 'malformation syndrome' + 'Saethre-Chotzen syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_793 Label: SAPHO syndrome - 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'SAPHO syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_121193 Label: desmoglein 2 - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' Class: http://www.orpha.net/ORDO/Orphanet_121196 Label: desmoplakin - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' Class: http://www.orpha.net/ORDO/Orphanet_158410 Label: solute carrier family 2 (facilitated glucose transporter), member 1 - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epilepsy with myoclonic-astatic seizures' + 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Candidate gene tested in' some 'Epilepsy with myoclonic-astatic seizures' Class: http://www.orpha.net/ORDO/Orphanet_60030 Label: Loeys-Dietz syndrome type 1 - 'Loeys-Dietz syndrome type 1' SubClassOf 'malformation syndrome' + 'Loeys-Dietz syndrome type 1' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_31709 Label: Infantile convulsions and choreoathetosis + 'Infantile convulsions and choreoathetosis' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_309001 Label: Disorder of carbohydrate absorption and transport - 'Disorder of carbohydrate absorption and transport' SubClassOf 'group of phenome' + 'Disorder of carbohydrate absorption and transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_760 Label: Purine nucleoside phosphorylase deficiency - 'Purine nucleoside phosphorylase deficiency' SubClassOf 'disease' + 'Purine nucleoside phosphorylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_763 Label: Pycnodysostosis - 'Pycnodysostosis' SubClassOf 'disease' + 'Pycnodysostosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_765 Label: Pyruvate dehydrogenase deficiency - 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease' + 'Pyruvate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_766 Label: Hemolytic anemia due to red cell pyruvate kinase deficiency - 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_767 Label: Polyarteritis nodosa + 'Polyarteritis nodosa' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_43393 Label: Lambert-Eaton myasthenic syndrome - 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Lambert-Eaton myasthenic syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_757 Label: Pseudohypoaldosteronism type 2 - 'Pseudohypoaldosteronism type 2' SubClassOf 'disease' + 'Pseudohypoaldosteronism type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99961 Label: Benign recurrent intrahepatic cholestasis type 2 - 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' + 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99960 Label: Benign recurrent intrahepatic cholestasis type 1 - 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' + 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_773 Label: Refsum disease - 'Refsum disease' SubClassOf 'disease' + 'Refsum disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_200037 Label: Paroxysmal dystonia - 'Paroxysmal dystonia' SubClassOf 'Rare dystonia' + 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_772 Label: Infantile Refsum disease - 'Infantile Refsum disease' SubClassOf 'disease' + 'Infantile Refsum disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1861 Label: Thoracic dysplasia-hydrocephalus syndrome - 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf 'malformation syndrome' + 'Thoracic dysplasia-hydrocephalus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_742 Label: Prolidase deficiency - 'Prolidase deficiency' SubClassOf 'disease' + 'Prolidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_744 Label: Proteus syndrome - 'Proteus syndrome' SubClassOf 'malformation syndrome' + 'Proteus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99977 Label: Esophageal squamous cell carcinoma - 'Esophageal squamous cell carcinoma' SubClassOf 'disease' + 'Esophageal squamous cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_99978 Label: Klatskin tumor - 'Klatskin tumor' SubClassOf 'clinical subtype' + 'Klatskin tumor' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_740 Label: Hutchinson-Gilford progeria syndrome + 'Hutchinson-Gilford progeria syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_309031 Label: Pancreatic triacylglycerol lipase deficiency - 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'disease' + 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1896 Label: EEC syndrome - 'EEC syndrome' SubClassOf 'malformation syndrome' + 'EEC syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1892 Label: Ectrodactyly - polydactyly - 'Ectrodactyly - polydactyly' SubClassOf 'malformation syndrome' + 'Ectrodactyly - polydactyly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_738 Label: Porphyria - 'Porphyria' SubClassOf 'group of phenome' + 'Porphyria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_737 Label: Porokeratosis plantaris palmaris et disseminata - 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'disease' + 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_753 Label: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency - '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'clinical subtype' + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1889 Label: Ectrodactyly - cleft palate - 'Ectrodactyly - cleft palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1888 Label: Ectrodactyly - ectodermal dysplasia without clefting - 'Ectrodactyly - ectodermal dysplasia without clefting' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99976 Label: Esophageal adenocarcinoma - 'Esophageal adenocarcinoma' SubClassOf 'disease' + 'Esophageal adenocarcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_746 Label: Mitochondrial trifunctional protein deficiency - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disease' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_prevalence' some 'Unknown' - 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disease' + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Mitochondrial trifunctional protein deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_715 Label: Glycogen storage disease due to muscle phosphorylase kinase deficiency - 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_716 Label: Phenylketonuria - 'Phenylketonuria' SubClassOf 'disease' + 'Phenylketonuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120054 Label: transforming growth factor, beta 3 - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' - 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'transforming growth factor, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' Class: http://www.orpha.net/ORDO/Orphanet_713 Label: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_714 Label: Hemolytic anemia due to diphosphoglycerate mutase deficiency - 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3275 Label: Spondylocarpotarsal synostosis - 'Spondylocarpotarsal synostosis' SubClassOf 'disease' + 'Spondylocarpotarsal synostosis' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3274 Label: Granulomatous arthritis of childhood - 'Granulomatous arthritis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3271 Label: Radio-ulnar synostosis - retinal pigment abnormalities - 'Radio-ulnar synostosis - retinal pigment abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_721 Label: Gray platelet syndrome + 'Gray platelet syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_726 Label: Alpers syndrome - 'Alpers syndrome' SubClassOf 'disease' + 'Alpers syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3260 Label: Idiopathic hypereosinophilic syndrome - 'Idiopathic hypereosinophilic syndrome' SubClassOf 'etiological subtype' + 'Idiopathic hypereosinophilic syndrome' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3259 Label: Syndactyly-polydactyly-ear lobe syndrome - 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'malformation syndrome' + 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_709 Label: Peters-plus syndrome - 'Peters-plus syndrome' SubClassOf 'malformation syndrome' + 'Peters-plus syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_702 Label: Pelizaeus-Merzbacher disease - 'Pelizaeus-Merzbacher disease' SubClassOf 'disease' + 'Pelizaeus-Merzbacher disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3246 Label: Symphalangism with multiple anomalies of hands and feet - 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'malformation syndrome' + 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120069 Label: transforming growth factor, beta receptor II (70/80kDa) - 'transforming growth factor, beta receptor II (70/80kDa)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aortic dilatation - joint hypermobility - arterial tortuosity' Class: http://www.orpha.net/ORDO/Orphanet_121117 Label: dystrophin - 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' Class: http://www.orpha.net/ORDO/Orphanet_139507 Label: African iron overload - 'African iron overload' SubClassOf 'disease' + 'African iron overload' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_712 Label: Hemolytic anemia due to glucophosphate isomerase deficiency - 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disease' + 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_711 Label: Glycogen storage disease due to phosphoglucomutase deficiency - 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to phosphoglucomutase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3293 Label: Telecanthus - hypertelorism - strabismus - pes cavus - 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'malformation syndrome' + 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3294 Label: Extensor tendons of finger anomalies - 'Extensor tendons of finger anomalies' SubClassOf 'malformation syndrome' + 'Extensor tendons of finger anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79501 Label: Punctate palmoplantar keratoderma type 1 - 'Punctate palmoplantar keratoderma type 1' SubClassOf 'disease' + 'Punctate palmoplantar keratoderma type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79500 Label: Autosomal recessive deafness-onychodystrophy syndrome + 'Autosomal recessive deafness-onychodystrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_79502 Label: Punctate palmoplantar keratoderma type 2 - 'Punctate palmoplantar keratoderma type 2' SubClassOf 'disease' + 'Punctate palmoplantar keratoderma type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159984 Label: paroxysmal nonkinesigenic dyskinesia - 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' + 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_3208 Label: Isolated succinate-CoQ reductase deficiency - 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'disease' + 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3205 Label: Sturge-Weber syndrome - 'Sturge-Weber syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Sturge-Weber syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_3212 Label: Autosomal dominant optic atrophy and congenital deafness - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3217 Label: Deafness - small bowel diverticulosis - neuropathy - 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'disease' + 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3213 Label: Deafness - opticoacoustic nerve atrophy - dementia - 'Deafness - opticoacoustic nerve atrophy - dementia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3222 Label: Phosphoribosylpyrophosphate synthetase superactivity - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_364399 Label: ceramide synthase 3 + 'ceramide synthase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital non-bullous ichthyosiform erythroderma' Class: http://www.orpha.net/ORDO/Orphanet_3231 Label: Deafness - onychodystrophy - 'Deafness - onychodystrophy' SubClassOf 'malformation syndrome' + 'Deafness - onychodystrophy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1970 Label: Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation - 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'malformation syndrome' + 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_95713 Label: Athyreosis + 'Athyreosis' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_95721 Label: Thyroid pyramidal lobe - 'Thyroid pyramidal lobe' SubClassOf 'part_of' some 'Congenital thyroid malformation without hypothyroidism' - 'Thyroid pyramidal lobe' SubClassOf 'morphological anamoly' + 'Thyroid pyramidal lobe' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_67048 Label: 3-methylglutaconic aciduria type 4 - '3-methylglutaconic aciduria type 4' SubClassOf 'disease' + '3-methylglutaconic aciduria type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_67047 Label: 3-methylglutaconic aciduria type 3 - '3-methylglutaconic aciduria type 3' SubClassOf 'disease' + '3-methylglutaconic aciduria type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_67046 Label: 3-methylglutaconic aciduria type 1 - '3-methylglutaconic aciduria type 1' SubClassOf 'disease' + '3-methylglutaconic aciduria type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_67041 Label: Hyaluronidase deficiency - 'Hyaluronidase deficiency' SubClassOf 'disease' + 'Hyaluronidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_67045 Label: X-linked intellectual deficit with isolated growth hormone deficiency - 'X-linked intellectual deficit with isolated growth hormone deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual deficit' + 'X-linked intellectual deficit with isolated growth hormone deficiency' SubClassOf 'part_of' some 'X-linked syndromic intellectual deficit' Class: http://www.orpha.net/ORDO/Orphanet_1935 Label: Early myoclonic encephalopathy - 'Early myoclonic encephalopathy' SubClassOf 'disease' + 'Early myoclonic encephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1934 Label: Early infantile epileptic encephalopathy + 'Early infantile epileptic encephalopathy' SubClassOf 'has_inheritance' some 'x linked recessive' Class: http://www.orpha.net/ORDO/Orphanet_67036 Label: Autosomal dominant optic atrophy and cataract - 'Autosomal dominant optic atrophy and cataract' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and cataract' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1948 Label: Epilepsy - microcephaly - skeletal dysplasia - 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'malformation syndrome' + 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1947 Label: Progressive epilepsy - intellectual deficit, Finnish type - 'Progressive epilepsy - intellectual deficit, Finnish type' SubClassOf 'disease' + 'Progressive epilepsy - intellectual deficit, Finnish type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1920 Label: Toluene embryopathy - 'Toluene embryopathy' SubClassOf 'disease' + 'Toluene embryopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1914 Label: Embryofetopathy due to oral anticoagulant therapy - 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'disease' + 'Embryofetopathy due to oral anticoagulant therapy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1915 Label: Fetal alcohol syndrome - 'Fetal alcohol syndrome' SubClassOf 'disease' + 'Fetal alcohol syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1912 Label: Fetal hydantoin syndrome - 'Fetal hydantoin syndrome' SubClassOf 'disease' + 'Fetal hydantoin syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1913 Label: Fetal trimethadione syndrome - 'Fetal trimethadione syndrome' SubClassOf 'disease' + 'Fetal trimethadione syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1918 Label: Fetal minoxidil syndrome - 'Fetal minoxidil syndrome' SubClassOf 'disease' + 'Fetal minoxidil syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_244310 Label: RFT1-CDG - 'RFT1-CDG' SubClassOf 'disease' + 'RFT1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1919 Label: Phenobarbital embryopathy - 'Phenobarbital embryopathy' SubClassOf 'disease' + 'Phenobarbital embryopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1917 Label: Fetal methylmercury syndrome - 'Fetal methylmercury syndrome' SubClassOf 'disease' + 'Fetal methylmercury syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1933 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'clinical subtype' - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1923 Label: Methimazole embryofetopathy - 'Methimazole embryofetopathy' SubClassOf 'disease' + 'Methimazole embryofetopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_223713 Label: Mitochondrial oxidative phosphorylation disorder - 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'group of phenome' + 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1926 Label: Diabetic embryopathy - 'Diabetic embryopathy' SubClassOf 'disease' + 'Diabetic embryopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1927 Label: Emery-Nelson syndrome - 'Emery-Nelson syndrome' SubClassOf 'malformation syndrome' + 'Emery-Nelson syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1928 Label: Congenital lobar emphysema - 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Congenital lobar emphysema' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital lobar emphysema' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_1911 Label: Cocaine embryofetopathy - 'Cocaine embryofetopathy' SubClassOf 'disease' + 'Cocaine embryofetopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1910 Label: Fetal iodine syndrome - 'Fetal iodine syndrome' SubClassOf 'disease' + 'Fetal iodine syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1906 Label: Fetal valproate syndrome - 'Fetal valproate syndrome' SubClassOf 'disease' + 'Fetal valproate syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1908 Label: Aminopterin/methotrexate embryofetopathy - 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'disease' + 'Aminopterin/methotrexate embryofetopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1909 Label: Indomethacin embryofetopathy - 'Indomethacin embryofetopathy' SubClassOf 'disease' + 'Indomethacin embryofetopathy' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139455 Label: Retinopathy, Burgess-Black type + 'Retinopathy, Burgess-Black type' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_48818 Label: Aceruloplasminemia - 'Aceruloplasminemia' SubClassOf 'disease' + 'Aceruloplasminemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_31837 Label: Pulmonary venoocclusive disease + 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some 'sporadic' + 'Pulmonary venoocclusive disease' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_79651 Label: Mild hyperphenylalaninemia - 'Mild hyperphenylalaninemia' SubClassOf 'clinical subtype' + 'Mild hyperphenylalaninemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_238569 Label: Autosomal recessive early-onset inflammatory bowel disease - 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'disease' + 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139477 Label: Al-Gazali-Dattani syndrome - 'Al-Gazali-Dattani syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_238583 Label: Hyperphenylalaninemia - 'Hyperphenylalaninemia' SubClassOf 'disease' + 'Hyperphenylalaninemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139485 Label: Autosomal recessive ataxia due to ubiquinone deficiency - 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'disease' + 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139480 Label: Autosomal recessive spastic paraplegia type 39 - 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168486 Label: Congenital neuronal ceroid lipofuscinosis - 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_859 Label: Transcobalamin deficiency - 'Transcobalamin deficiency' SubClassOf 'disease' + 'Transcobalamin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139491 Label: Hemochromatosis type 4 - 'Hemochromatosis type 4' SubClassOf 'disease' + 'Hemochromatosis type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_869 Label: Triple A syndrome - 'Triple A syndrome' SubClassOf 'disease' + 'Triple A syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_868 Label: Triose phosphate-isomerase deficiency - 'Triose phosphate-isomerase deficiency' SubClassOf 'disease' + 'Triose phosphate-isomerase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_168491 Label: Late infantile neuronal ceroid lipofuscinosis - 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_882 Label: Tyrosinemia type 1 - 'Tyrosinemia type 1' SubClassOf 'disease' + 'Tyrosinemia type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1993 Label: Pai syndrome - 'Pai syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit' - 'Pai syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit' + 'Pai syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_158588 Label: HNF1 homeobox B - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'HNF1 homeobox B' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_894 Label: Waardenburg syndrome type 1 - 'Waardenburg syndrome type 1' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_899 Label: Walker-Warburg syndrome - 'Walker-Warburg syndrome' SubClassOf 'disease' + 'Walker-Warburg syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_279934 Label: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'disease' + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1981 Label: Fanconi syndrome - ichthyosis - dysmorphism - 'Fanconi syndrome - ichthyosis - dysmorphism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1984 Label: Fechtner syndrome - 'Fechtner syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_65759 Label: Carpenter syndrome + 'Carpenter syndrome' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_3137 Label: Alpha-N-acetylgalactosaminidase deficiency - 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'disease' + 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_818 Label: Smith-Lemli-Opitz syndrome - 'Smith-Lemli-Opitz syndrome' SubClassOf 'disease' + 'Smith-Lemli-Opitz syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_816 Label: Sj�gren-Larsson syndrome - 'Sj�gren-Larsson syndrome' SubClassOf 'disease' + 'Sj�gren-Larsson syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3134 Label: SCARF syndrome - 'SCARF syndrome' SubClassOf 'malformation syndrome' + 'SCARF syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_812 Label: Sialidosis type 1 - 'Sialidosis type 1' SubClassOf 'disease' + 'Sialidosis type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3133 Label: Say-Field-Coldwell syndrome - 'Say-Field-Coldwell syndrome' SubClassOf 'malformation syndrome' + 'Say-Field-Coldwell syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_83628 Label: PELVIS syndrome - 'PELVIS syndrome' SubClassOf 'malformation syndrome' + 'PELVIS syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3129 Label: Sarcosinemia - 'Sarcosinemia' SubClassOf 'disease' + 'Sarcosinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3124 Label: Saccharopinuria - 'Saccharopinuria' SubClassOf 'disease' + 'Saccharopinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3123 Label: Brittle hair syndrome, Sabinas type - 'Brittle hair syndrome, Sabinas type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_83639 Label: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'disease' + 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_833 Label: Encephalopathy due to sulfite oxidase deficiency - 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'disease' + 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_832 Label: Succinyl-CoA:3-ketoacid CoA transferase deficiency - 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'disease' + 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3157 Label: Septo-optic dysplasia - 'Septo-optic dysplasia' SubClassOf 'malformation syndrome' + 'Septo-optic dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_834 Label: Free sialic acid storage disease - 'Free sialic acid storage disease' SubClassOf 'disease' + 'Free sialic acid storage disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_100924 Label: Porphyria due to ALA dehydratase deficiency - 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'disease' + 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3151 Label: Multiple sclerosis - ichthyosis - factor VIII deficiency - 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'disease' + 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_845 Label: Tay-Sachs disease - 'Tay-Sachs disease' SubClassOf 'disease' + 'Tay-Sachs disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3144 Label: Schneckenbecken dysplasia - 'Schneckenbecken dysplasia' SubClassOf 'disease' + 'Schneckenbecken dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86309 Label: DPAGT1-CDG - 'DPAGT1-CDG' SubClassOf 'disease' + 'DPAGT1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_850 Label: May-Hegglin thrombocytopenia - 'May-Hegglin thrombocytopenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_83618 Label: Severe dilated cardiomyopathy due to lamin A/C mutation - 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139406 Label: Encephalopathy due to prosaposin deficiency - 'Encephalopathy due to prosaposin deficiency' SubClassOf 'disease' + 'Encephalopathy due to prosaposin deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_56044 Label: Carcinoma of the gallbladder - 'Carcinoma of the gallbladder' SubClassOf 'disease' + 'Carcinoma of the gallbladder' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_221016 Label: Rothmund-Thomson syndrome type 2 - 'Rothmund-Thomson syndrome type 2' SubClassOf 'part_of' some 'Hereditary poikiloderma' Class: http://www.orpha.net/ORDO/Orphanet_238517 Label: Hypotonia - cystinuria type 1 - 'Hypotonia - cystinuria type 1' SubClassOf 'group of phenome' + 'Hypotonia - cystinuria type 1' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_3163 Label: SHORT syndrome + 'SHORT syndrome' SubClassOf 'part_of' some 'Insulin-resistance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3166 Label: Sialuria - 'Sialuria' SubClassOf 'disease' + 'Sialuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3168 Label: Sillence syndrome - 'Sillence syndrome' SubClassOf 'malformation syndrome' + 'Sillence syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139420 Label: Secondary acute transverse myelitis - 'Secondary acute transverse myelitis' SubClassOf 'etiological subtype' + 'Secondary acute transverse myelitis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_238523 Label: Atypical hypotonia - cystinuria syndrome - 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'disease' + 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139423 Label: Idiopathic acute transverse myelitis - 'Idiopathic acute transverse myelitis' SubClassOf 'disease' - 'Idiopathic acute transverse myelitis' SubClassOf 'Acute transverse myelitis' + 'Idiopathic acute transverse myelitis' SubClassOf 'part_of' some 'Acute transverse myelitis' + 'Idiopathic acute transverse myelitis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3199 Label: Stimmler syndrome - 'Stimmler syndrome' SubClassOf 'malformation syndrome' + 'Stimmler syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3197 Label: Hereditary hyperekplexia - 'Hereditary hyperekplexia' SubClassOf 'disease' + 'Hereditary hyperekplexia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_83642 Label: Microcytic anemia with liver iron overload - 'Microcytic anemia with liver iron overload' SubClassOf 'disease' + 'Microcytic anemia with liver iron overload' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_807 Label: Sebastian syndrome - 'Sebastian syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_331226 Label: Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency - 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'etiological subtype' + 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_140966 Label: Palmoplantar keratoderma, Nagashima type - 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'disease' + 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_324422 Label: ALG13-CDG - 'ALG13-CDG' SubClassOf 'disease' + 'ALG13-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3106 Label: Robinow-Sorauf syndrome - 'Robinow-Sorauf syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3107 Label: Autosomal dominant Robinow syndrome - 'Autosomal dominant Robinow syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Autosomal dominant Robinow syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_3118 Label: Rudiger syndrome - 'Rudiger syndrome' SubClassOf 'malformation syndrome' + 'Rudiger syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98673 Label: Autosomal dominant optic atrophy, classic type - 'Autosomal dominant optic atrophy, classic type' SubClassOf 'disease' + 'Autosomal dominant optic atrophy, classic type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3111 Label: Rotor syndrome - 'Rotor syndrome' SubClassOf 'disease' + 'Rotor syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3112 Label: Patella aplasia - coxa vara - tarsal synostosis - 'Patella aplasia - coxa vara - tarsal synostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_156723 Label: Piepkorn dysplasia - 'Piepkorn dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_221061 Label: Hereditary cerebral cavernous malformation + 'Hereditary cerebral cavernous malformation' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Hereditary cerebral cavernous malformation' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_199326 Label: Isolated autosomal dominant hypomagnesemia, Glaudemans type - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'disease' - 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'disease' + 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_79273 Label: Hereditary coproporphyria - 'Hereditary coproporphyria' SubClassOf 'disease' + 'Hereditary coproporphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79272 Label: Sanfilippo syndrome type D - 'Sanfilippo syndrome type D' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type D' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79271 Label: Sanfilippo syndrome type C - 'Sanfilippo syndrome type C' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type C' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79270 Label: Sanfilippo syndrome type B - 'Sanfilippo syndrome type B' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type B' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79277 Label: Congenital erythropoietic porphyria - 'Congenital erythropoietic porphyria' SubClassOf 'disease' + 'Congenital erythropoietic porphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79276 Label: Acute intermittent porphyria - 'Acute intermittent porphyria' SubClassOf 'disease' + 'Acute intermittent porphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309347 Label: Disorder of protein N-glycosylation - 'Disorder of protein N-glycosylation' SubClassOf 'group of phenome' + 'Disorder of protein N-glycosylation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79279 Label: Alpha-N-acetylgalactosaminidase deficiency type 1 - 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79278 Label: Erythropoietic protoporphyria - 'Erythropoietic protoporphyria' SubClassOf 'disease' + 'Erythropoietic protoporphyria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309340 Label: Disorder of lysosomal-related organelles - 'Disorder of lysosomal-related organelles' SubClassOf 'group of phenome' + 'Disorder of lysosomal-related organelles' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_208994 Label: Other ganglionopathy related to autoimmune diseases - 'Other ganglionopathy related to autoimmune diseases' SubClassOf 'Non-paraneoplastic sensory ganglionopathy' - 'Other ganglionopathy related to autoimmune diseases' SubClassOf 'group of phenome' + 'Other ganglionopathy related to autoimmune diseases' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_255199 Label: Sporadic Leigh syndrome - 'Sporadic Leigh syndrome' SubClassOf 'disease' + 'Sporadic Leigh syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79282 Label: Methylmalonic acidemia with homocystinuria, type cblC - 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79281 Label: Alpha-N-acetylgalactosaminidase deficiency type 3 - 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79284 Label: Methylmalonic acidemia with homocystinuria, type cblF - 'Methylmalonic acidemia with homocystinuria, type cblF' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblF' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79283 Label: Methylmalonic acidemia with homocystinuria, type cblD - 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'clinical subtype' + 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_117673 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 9 - 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 9' SubClassOf 'Candidate gene tested in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_79289 Label: Niemann-Pick disease type D - 'Niemann-Pick disease type D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309337 Label: Lysosomal glycogen storage disease - 'Lysosomal glycogen storage disease' SubClassOf 'group of phenome' + 'Lysosomal glycogen storage disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_118725 Label: SIX homeobox 3 - 'SIX homeobox 3' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_309334 Label: Salla disease - 'Salla disease' SubClassOf 'clinical subtype' + 'Salla disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309331 Label: Intermediate severe Salla disease - 'Intermediate severe Salla disease' SubClassOf 'clinical subtype' + 'Intermediate severe Salla disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284973 Label: Marfan syndrome type 2 - 'Marfan syndrome type 2' SubClassOf 'clinical subtype' + 'Marfan syndrome type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_255182 Label: Pyruvate dehydrogenase E3-binding protein deficiency - 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_263410 Label: Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease - 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'disease' + 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79280 Label: Alpha-N-acetylgalactosaminidase deficiency type 2 - 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'clinical subtype' + 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79299 Label: Hyperinsulinism due to glucokinase deficiency - 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'disease' + 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79293 Label: Familial LCAT deficiency - 'Familial LCAT deficiency' SubClassOf 'clinical subtype' + 'Familial LCAT deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79292 Label: Fish-eye disease - 'Fish-eye disease' SubClassOf 'clinical subtype' + 'Fish-eye disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309324 Label: Free sialic acid storage disease, infantile form - 'Free sialic acid storage disease, infantile form' SubClassOf 'clinical subtype' + 'Free sialic acid storage disease, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_284963 Label: Marfan syndrome type 1 - 'Marfan syndrome type 1' SubClassOf 'clinical subtype' + 'Marfan syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_227976 Label: Autosomal recessive optic atrophy, OPA7 type - 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'disease' + 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_206583 Label: Adult polyglucosan body disease - 'Adult polyglucosan body disease' SubClassOf 'clinical subtype' + 'Adult polyglucosan body disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309319 Label: Disorder of sialic acid metabolism - 'Disorder of sialic acid metabolism' SubClassOf 'group of phenome' + 'Disorder of sialic acid metabolism' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_280671 Label: Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect - 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'disease' + 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309310 Label: Mucopolysaccharidosis type 4B - 'Mucopolysaccharidosis type 4B' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 4B' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_280663 Label: Hermansky-Pudlak syndrome type 9 - 'Hermansky-Pudlak syndrome type 9' SubClassOf 'clinical subtype' + 'Hermansky-Pudlak syndrome type 9' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79237 Label: Galactokinase deficiency - 'Galactokinase deficiency' SubClassOf 'disease' + 'Galactokinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79234 Label: Crigler-Najjar syndrome type 1 - 'Crigler-Najjar syndrome type 1' SubClassOf 'clinical subtype' + 'Crigler-Najjar syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79235 Label: Crigler-Najjar syndrome type 2 - 'Crigler-Najjar syndrome type 2' SubClassOf 'clinical subtype' + 'Crigler-Najjar syndrome type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79238 Label: Galactose epimerase deficiency - 'Galactose epimerase deficiency' SubClassOf 'disease' + 'Galactose epimerase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79239 Label: Classic galactosemia - 'Classic galactosemia' SubClassOf 'disease' + 'Classic galactosemia' SubClassOf 'part_of' some 'Non-acquired premature ovarian failure' + 'Classic galactosemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79233 Label: Kelley-Seegmiller syndrome - 'Kelley-Seegmiller syndrome' SubClassOf 'disease' + 'Kelley-Seegmiller syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79230 Label: Hemochromatosis type 2 - 'Hemochromatosis type 2' SubClassOf 'disease' + 'Hemochromatosis type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_261476 Label: Monosomy Xp21 - 'Monosomy Xp21' SubClassOf 'disease' + 'Monosomy Xp21' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2017 Label: Sternal cleft - 'Sternal cleft' SubClassOf 'part_of' some 'Nonsyndromic diaphragmatic or thoracic malformation' - 'Sternal cleft' SubClassOf 'malformation syndrome' - 'Sternal cleft' SubClassOf 'part_of' some 'Thoracic malformation' + 'Sternal cleft' SubClassOf 'Thoracic malformation' + 'Sternal cleft' SubClassOf 'group of phenome' + 'Sternal cleft' SubClassOf 'Nonsyndromic diaphragmatic or thoracic malformation' Class: http://www.orpha.net/ORDO/Orphanet_122862 Label: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Indolent systemic mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maculopapular cutaneous mastocytosis' - 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Aggressive systemic mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Isolated bone marrow mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Plaque-form urticaria pigmentosa' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Lymphoadenopathic mastocytosis with eosinophilia' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nodular urticaria pigmentosa' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Smouldering systemic mastocytosis' + 'v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Typical urticaria pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_79246 Label: Pyruvate dehydrogenase phosphatase deficiency - 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79240 Label: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79241 Label: Biotinidase deficiency - 'Biotinidase deficiency' SubClassOf 'disease' + 'Biotinidase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79242 Label: Holocarboxylase synthetase deficiency - 'Holocarboxylase synthetase deficiency' SubClassOf 'disease' + 'Holocarboxylase synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79243 Label: Pyruvate dehydrogenase E1-alpha deficiency - 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79244 Label: Pyruvate dehydrogenase E2 deficiency - 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_122879 Label: Kirsten rat sarcoma viral oncogene homolog - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Candidate gene tested in' some 'Costello syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79258 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency type a - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79259 Label: Glycogen storage disease due to glucose-6-phosphatase deficiency type b - 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'clinical subtype' + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79256 Label: GM1 gangliosidosis type 2 - 'GM1 gangliosidosis type 2' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79257 Label: GM1 gangliosidosis type 3 - 'GM1 gangliosidosis type 3' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79254 Label: Classical phenylketonuria - 'Classical phenylketonuria' SubClassOf 'clinical subtype' + 'Classical phenylketonuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79255 Label: GM1 gangliosidosis type 1 - 'GM1 gangliosidosis type 1' SubClassOf 'clinical subtype' + 'GM1 gangliosidosis type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79253 Label: Mild phenylketonuria - 'Mild phenylketonuria' SubClassOf 'clinical subtype' + 'Mild phenylketonuria' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99777 Label: Achalasia-alacrimia syndrome - 'Achalasia-alacrimia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_307064 Label: Rare genetic myoclonus - 'Rare genetic myoclonus' SubClassOf 'group of phenome' + 'Rare genetic myoclonus' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_307061 Label: Rare genetic tremor disorder - 'Rare genetic tremor disorder' SubClassOf 'group of phenome' + 'Rare genetic tremor disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_307067 Label: Rare genetic disease with myoclonus as a major feature - 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'group of phenome' + 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_307058 Label: Miscellaneous movement disorder due to genetic neurodegenerative disease - 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'group of phenome' + 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_118703 Label: sonic hedgehog - 'sonic hedgehog' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' + 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_79269 Label: Sanfilippo syndrome type A - 'Sanfilippo syndrome type A' SubClassOf 'etiological subtype' + 'Sanfilippo syndrome type A' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79263 Label: Infantile neuronal ceroid lipofuscinosis - 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_313772 Label: Early-onset spastic ataxia-neuropathy syndrome - 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'disease' + 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79264 Label: Juvenile neuronal ceroid lipofuscinosis - 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79260 Label: Glycogen storage disease type 1C - 'Glycogen storage disease type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79261 Label: Glycogen storage disease type 1D - 'Glycogen storage disease type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79262 Label: Adult neuronal ceroid lipofuscinosis - 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disease' + 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307052 Label: Rare genetic parkinsonian disorder - 'Rare genetic parkinsonian disorder' SubClassOf 'group of phenome' + 'Rare genetic parkinsonian disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_307055 Label: Rare parkinsonian syndrome due to genetic neurodegenerative disease - 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'group of phenome' + 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_255225 Label: Maternally-inherited mitochondrial hypertrophic cardiomyopathy - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'disease' + 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309294 Label: Sialidosis - 'Sialidosis' SubClassOf 'group of phenome' + 'Sialidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_255229 Label: Navajo neurohepatopathy - 'Navajo neurohepatopathy' SubClassOf 'disease' + 'Navajo neurohepatopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79319 Label: MPI-CDG - 'MPI-CDG' SubClassOf 'disease' + 'MPI-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_263494 Label: DPM3-CDG - 'DPM3-CDG' SubClassOf 'disease' + 'DPM3-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309297 Label: Mucopolysaccharidosis type 4A - 'Mucopolysaccharidosis type 4A' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 4A' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Mucopolysaccharidosis type 4A' SubClassOf 'clinical subtype' + 'Mucopolysaccharidosis type 4A' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_79321 Label: ALG3-CDG - 'ALG3-CDG' SubClassOf 'disease' + 'ALG3-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79320 Label: ALG6-CDG - 'ALG6-CDG' SubClassOf 'disease' + 'ALG6-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99715 Label: MASS syndrome - 'MASS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99718 Label: Leber 'plus' disease - 'Leber 'plus' disease' SubClassOf 'disease' + 'Leber 'plus' disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_87503 Label: Mal de Meleda - 'Mal de Meleda' SubClassOf 'disease' + 'Mal de Meleda' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_139399 Label: Adrenomyeloneuropathy - 'Adrenomyeloneuropathy' SubClassOf 'clinical subtype' + 'Adrenomyeloneuropathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_139396 Label: X-linked cerebral adrenoleukodystrophy - 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'clinical subtype' + 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79329 Label: MGAT2-CDG - 'MGAT2-CDG' SubClassOf 'disease' + 'MGAT2-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79328 Label: ALG9-CDG - 'ALG9-CDG' SubClassOf 'disease' + 'ALG9-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79327 Label: ALG1-CDG - 'ALG1-CDG' SubClassOf 'disease' + 'ALG1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79326 Label: ALG2-CDG - 'ALG2-CDG' SubClassOf 'disease' + 'ALG2-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79325 Label: ALG8-CDG - 'ALG8-CDG' SubClassOf 'disease' + 'ALG8-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79324 Label: ALG12-CDG - 'ALG12-CDG' SubClassOf 'disease' + 'ALG12-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79323 Label: MPDU1-CDG - 'MPDU1-CDG' SubClassOf 'disease' + 'MPDU1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79322 Label: DPM1-CDG - 'DPM1-CDG' SubClassOf 'disease' + 'DPM1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_255235 Label: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'clinical subtype' + 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_263487 Label: COG5-CDG - 'COG5-CDG' SubClassOf 'disease' + 'COG5-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79310 Label: Vitamin B12-responsive methylmalonic acidemia type cblA - 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'clinical subtype' + 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79316 Label: Phosphoenolpyruvate carboxykinase 1 deficiency - 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'etiological subtype' + 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79315 Label: D-2-hydroxyglutaric aciduria - 'D-2-hydroxyglutaric aciduria' SubClassOf 'disease' + 'D-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79318 Label: PMM2-CDG - 'PMM2-CDG' SubClassOf 'disease' + 'PMM2-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79317 Label: Phosphoenolpyruvate carboxykinase 2 deficiency - 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'etiological subtype' + 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79312 Label: Vitamin B12-unresponsive methylmalonic acidemia type mut- - 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'clinical subtype' + 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79311 Label: Vitamin B12-responsive methylmalonic acidemia type cblB - 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'clinical subtype' + 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79314 Label: L-2-hydroxyglutaric aciduria - 'L-2-hydroxyglutaric aciduria' SubClassOf 'disease' + 'L-2-hydroxyglutaric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309279 Label: Glycoproteinosis - 'Glycoproteinosis' SubClassOf 'group of phenome' + 'Glycoproteinosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309271 Label: Metachromatic leukodystrophy, adult form - 'Metachromatic leukodystrophy, adult form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79345 Label: Brachytelephalangic chondrodysplasia punctata - 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'malformation syndrome' + 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309288 Label: Alpha-mannosidosis, adult form - 'Alpha-mannosidosis, adult form' SubClassOf 'clinical subtype' + 'Alpha-mannosidosis, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_307141 Label: Diffuse palmoplantar keratoderma - 'Diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_121390 Label: apolipoprotein E - 'apolipoprotein E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperlipidemia type 3' + 'apolipoprotein E' SubClassOf 'Major susceptibility factor in' some 'Hyperlipidemia type 3' Class: http://www.orpha.net/ORDO/Orphanet_99732 Label: Sulfite oxidase deficiency due to molybdenum cofactor deficiency - 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'etiological subtype' + 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_255210 Label: Maternally-inherited Leigh syndrome - 'Maternally-inherited Leigh syndrome' SubClassOf 'disease' + 'Maternally-inherited Leigh syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Maternally-inherited Leigh syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99731 Label: Isolated sulfite oxidase deficiency - 'Isolated sulfite oxidase deficiency' SubClassOf 'etiological subtype' + 'Isolated sulfite oxidase deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309282 Label: Alpha-mannosidosis, infantile form - 'Alpha-mannosidosis, infantile form' SubClassOf 'clinical subtype' + 'Alpha-mannosidosis, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_263463 Label: CHST3-related skeletal dysplasia - 'CHST3-related skeletal dysplasia' SubClassOf 'disease' + 'CHST3-related skeletal dysplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_995 Label: X-linked fetal akinesia syndrome - 'X-linked fetal akinesia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79330 Label: GCS1-CDG - 'GCS1-CDG' SubClassOf 'disease' + 'GCS1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79332 Label: B4GALT1-CDG - 'B4GALT1-CDG' SubClassOf 'disease' + 'B4GALT1-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79333 Label: COG7-CDG - 'COG7-CDG' SubClassOf 'disease' + 'COG7-CDG' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_307148 Label: Isolated diffuse palmoplantar keratoderma - 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1670 Label: Chronic diarrhea with villous atrophy - 'Chronic diarrhea with villous atrophy' SubClassOf 'disease' + 'Chronic diarrhea with villous atrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1675 Label: Dihydropyrimidine dehydrogenase deficiency - 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'disease' + 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309256 Label: Metachromatic leukodystrophy, late infantile form - 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1674 Label: Digitorenocerebral syndrome - 'Digitorenocerebral syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309252 Label: Atypical Gaucher disease due to saposin C deficiency - 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'clinical subtype' + 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1678 Label: Dincsoy-Salih-Patel syndrome - 'Dincsoy-Salih-Patel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_206554 Label: Autosomal recessive limb-girdle muscular dystrophy type 2M - 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1662 Label: Lethal restrictive dermopathy + 'Lethal restrictive dermopathy' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_309263 Label: Metachromatic leukodystrophy, juvenile form - 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'clinical subtype' + 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_48736 Label: Intracranial embryonal carcinoma - 'Intracranial embryonal carcinoma' SubClassOf 'clinical subtype' - 'Intracranial embryonal carcinoma' SubClassOf 'part_of' some 'Embryonal carcinoma' + 'Intracranial embryonal carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_65682 Label: Benign recurrent intrahepatic cholestasis - 'Benign recurrent intrahepatic cholestasis' SubClassOf 'disease' + 'Benign recurrent intrahepatic cholestasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_255241 Label: Leigh syndrome with leukodystrophy - 'Leigh syndrome with leukodystrophy' SubClassOf 'disease' + 'Leigh syndrome with leukodystrophy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_255249 Label: Leigh syndrome with nephrotic syndrome - 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease' + 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79302 Label: Congenital bile acid synthesis defect type 3 - 'Congenital bile acid synthesis defect type 3' SubClassOf 'disease' + 'Congenital bile acid synthesis defect type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79303 Label: Congenital bile acid synthesis defect type 2 - 'Congenital bile acid synthesis defect type 2' SubClassOf 'disease' + 'Congenital bile acid synthesis defect type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293355 Label: Methylmalonic acidemia without homocystinuria - 'Methylmalonic acidemia without homocystinuria' SubClassOf 'group of phenome' + 'Methylmalonic acidemia without homocystinuria' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79301 Label: Congenital bile acid synthesis defect type 1 - 'Congenital bile acid synthesis defect type 1' SubClassOf 'disease' + 'Congenital bile acid synthesis defect type 1' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309239 Label: Tay-Sachs disease, B1 variant - 'Tay-Sachs disease, B1 variant' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B1 variant' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79306 Label: Progressive familial intrahepatic cholestasis type 1 - 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' + 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79304 Label: Progressive familial intrahepatic cholestasis type 2 - 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' + 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79305 Label: Progressive familial intrahepatic cholestasis type 3 - 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'clinical subtype' + 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_3084 Label: Mirhosseini-Holmes-Walton syndrome - 'Mirhosseini-Holmes-Walton syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3088 Label: Retinopathy - anemia- central nervous system anomalies + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Retinopathy - anemia- central nervous system anomalies' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_309246 Label: GM2-gangliosidosis, AB variant - 'GM2-gangliosidosis, AB variant' SubClassOf 'disease' + 'GM2-gangliosidosis, AB variant' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_199348 Label: Thiamine-responsive encephalopathy - 'Thiamine-responsive encephalopathy' SubClassOf 'disease' + 'Thiamine-responsive encephalopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314918 Label: Mild Canavan disease - 'Mild Canavan disease' SubClassOf 'clinical subtype' + 'Mild Canavan disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_912 Label: Zellweger syndrome - 'Zellweger syndrome' SubClassOf 'disease' + 'Zellweger syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_159752 Label: low density lipoprotein receptor-related protein 6 - 'low density lipoprotein receptor-related protein 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' + 'low density lipoprotein receptor-related protein 6' SubClassOf 'Major susceptibility factor in' some 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' Class: http://www.orpha.net/ORDO/Orphanet_918 Label: ABCD syndrome - 'ABCD syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_930 Label: Idiopathic achalasia - 'Idiopathic achalasia' SubClassOf 'disease' + 'Idiopathic achalasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_199337 Label: Pancreatic insufficiency - anemia - hyperostosis - 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'disease' + 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_927 Label: Hyperammonemia due to N-acetylglutamate synthetase deficiency - 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'disease' + 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_926 Label: Acatalasemia - 'Acatalasemia' SubClassOf 'disease' + 'Acatalasemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3065 Label: Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly - 'Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3057 Label: Monoamine oxidase A deficiency - 'Monoamine oxidase A deficiency' SubClassOf 'disease' + 'Monoamine oxidase A deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_910 Label: Xeroderma pigmentosum - 'Xeroderma pigmentosum' SubClassOf 'disease' + 'Xeroderma pigmentosum' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_314911 Label: Severe Canavan disease - 'Severe Canavan disease' SubClassOf 'clinical subtype' + 'Severe Canavan disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_199351 Label: Adult-onset dystonia-parkinsonism - 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some 'Combined dystonia' - 'Adult-onset dystonia-parkinsonism' SubClassOf 'disease' + 'Adult-onset dystonia-parkinsonism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391711 + 'Adult-onset dystonia-parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_909 Label: Cerebrotendinous xanthomatosis - 'Cerebrotendinous xanthomatosis' SubClassOf 'disease' + 'Cerebrotendinous xanthomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_166073 Label: Pontocerebellar hypoplasia type 6 - 'Pontocerebellar hypoplasia type 6' SubClassOf 'malformation syndrome' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_905 Label: Wilson disease - 'Wilson disease' SubClassOf 'disease' + 'Wilson disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_42062 Label: Iminoglycinuria - 'Iminoglycinuria' SubClassOf 'disease' + 'Iminoglycinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_964 Label: Acromegaly - cutis verticis gyrata - corneal leukoma - 'Acromegaly - cutis verticis gyrata - corneal leukoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_171714 Label: Amish infantile epilepsy syndrome - 'Amish infantile epilepsy syndrome' SubClassOf 'disease' + 'Amish infantile epilepsy syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_955 Label: Acroosteolysis, dominant type - 'Acroosteolysis, dominant type' SubClassOf 'malformation syndrome' + 'Acroosteolysis, dominant type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_976 Label: Adenine phosphoribosyltransferase deficiency - 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'disease' + 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3022 Label: Rapp-Hodgkin syndrome - 'Rapp-Hodgkin syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3026 Label: Radial ray hypoplasia - choanal atresia - 'Radial ray hypoplasia - choanal atresia' SubClassOf 'malformation syndrome' + 'Radial ray hypoplasia - choanal atresia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_943 Label: Malonic aciduria - 'Malonic aciduria' SubClassOf 'disease' + 'Malonic aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_124094 Label: paired box 6 - 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia - presenile cataract' + 'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia - presenile cataract' Class: http://www.orpha.net/ORDO/Orphanet_941 Label: D-glyceric aciduria - 'D-glyceric aciduria' SubClassOf 'disease' + 'D-glyceric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_939 Label: 3-hydroxyisobutyric aciduria - '3-hydroxyisobutyric aciduria' SubClassOf 'disease' + '3-hydroxyisobutyric aciduria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_936 Label: Succinic acidemia - 'Succinic acidemia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3013 Label: Radiculomegaly of canine teeth- congenital cataract - 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3016 Label: Radius absent - anogenital anomalies - 'Radius absent - anogenital anomalies' SubClassOf 'malformation syndrome' + 'Radius absent - anogenital anomalies' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3015 Label: Radio-renal syndrome - 'Radio-renal syndrome' SubClassOf 'malformation syndrome' + 'Radio-renal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3000 Label: Testotoxicosis - 'Testotoxicosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Testotoxicosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_3006 Label: Pyridoxine-dependent epilepsy - 'Pyridoxine-dependent epilepsy' SubClassOf 'disease' + 'Pyridoxine-dependent epilepsy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3008 Label: Pyruvate carboxylase deficiency - 'Pyruvate carboxylase deficiency' SubClassOf 'disease' + 'Pyruvate carboxylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98788 Label: Pitt-Rogers-Danks syndrome - 'Pitt-Rogers-Danks syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_329931 Label: C3 glomerulonephritis - 'C3 glomerulonephritis' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' - 'C3 glomerulonephritis' SubClassOf 'clinical subtype' + 'C3 glomerulonephritis' SubClassOf 'histopathological subtype' + 'C3 glomerulonephritis' SubClassOf 'part_of' some 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_329942 Label: Transient neonatal multiple acyl-CoA dehydrogenase deficiency - 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_266126 Label: glutamate receptor, ionotropic, N-methyl D-aspartate 2B + 'glutamate receptor, ionotropic, N-methyl D-aspartate 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364541 Label: Fronto-otopalatodigital syndrome - 'Fronto-otopalatodigital syndrome' SubClassOf 'group of phenome' + 'Fronto-otopalatodigital syndrome' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79395 Label: Keratoderma hereditarium mutilans with ichthyosis - 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'disease' + 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_75234 Label: Cholesteryl ester storage disease - 'Cholesteryl ester storage disease' SubClassOf 'clinical subtype' + 'Cholesteryl ester storage disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_75233 Label: Wolman disease - 'Wolman disease' SubClassOf 'part_of' some 'Unclassified primitive or secondary maculopathy' - 'Wolman disease' SubClassOf 'clinical subtype' + 'Wolman disease' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_118821 Label: solute carrier family 26 (anion exchanger), member 4 + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thyroid hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_79350 Label: 3-phosphoserine phosphatase deficiency - '3-phosphoserine phosphatase deficiency' SubClassOf 'disease' + '3-phosphoserine phosphatase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79351 Label: 3-phosphoglycerate dehydrogenase deficiency - '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'disease' + '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_247203 Label: Collecting duct carcinoma - 'Collecting duct carcinoma' SubClassOf 'disease' + 'Collecting duct carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_79357 Label: Hereditary palmoplantar keratoderma - 'Hereditary palmoplantar keratoderma' SubClassOf 'group of phenome' + 'Hereditary palmoplantar keratoderma' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1707 Label: Distal trisomy 15q - 'Distal trisomy 15q' SubClassOf '15q overgrowth syndrome' - 'Distal trisomy 15q' SubClassOf 'malformation syndrome' + 'Distal trisomy 15q' SubClassOf 'part_of' some '15q overgrowth syndrome' + 'Distal trisomy 15q' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_118803 Label: solute carrier family 25 (mitochondrial carrier: glutamate), member 22 + 'solute carrier family 25 (mitochondrial carrier: glutamate), member 22' SubClassOf 'Disease-causing germline mutation(s) in' some 'Malignant migrating partial seizures of infancy' Class: http://www.orpha.net/ORDO/Orphanet_99865 Label: Spermatocytic seminoma - 'Spermatocytic seminoma' SubClassOf 'part_of' some 'Testicular and paratesticular tumor' - 'Spermatocytic seminoma' SubClassOf 'clinical subtype' + 'Spermatocytic seminoma' SubClassOf 'disease' + 'Spermatocytic seminoma' SubClassOf 'part_of' some 'Testicular germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_166105 Label: FASTKD2-related infantile mitochondrial encephalomyopathy - 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'disease' + 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309152 Label: GM2 gangliosidosis - 'GM2 gangliosidosis' SubClassOf 'group of phenome' + 'GM2 gangliosidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_122974 Label: laminin, beta 3 + 'laminin, beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_309155 Label: Sandhoff disease, infantile form - 'Sandhoff disease, infantile form' SubClassOf 'clinical subtype' + 'Sandhoff disease, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1775 Label: Dyskeratosis congenita + 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_324299 Label: Multiple paragangliomas associated with polycythemia - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'disease' - 'Multiple paragangliomas associated with polycythemia' SubClassOf 'Sporadic pheochromocytoma/secreting paraganglioma' + 'Multiple paragangliomas associated with polycythemia' SubClassOf 'part_of' some 'Sporadic pheochromocytoma/secreting paraganglioma' + 'Multiple paragangliomas associated with polycythemia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99857 Label: Secondary syringomyelia - 'Secondary syringomyelia' SubClassOf 'Syringomyelia' - 'Secondary syringomyelia' SubClassOf 'disease' + 'Secondary syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' + 'Secondary syringomyelia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99858 Label: Idiopathic syringomyelia - 'Idiopathic syringomyelia' SubClassOf 'disease' - 'Idiopathic syringomyelia' SubClassOf 'Syringomyelia' + 'Idiopathic syringomyelia' SubClassOf 'clinical subtype' + 'Idiopathic syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99859 Label: Posttraumatic syringomyelia - 'Posttraumatic syringomyelia' SubClassOf 'Syringomyelia' - 'Posttraumatic syringomyelia' SubClassOf 'disease' + 'Posttraumatic syringomyelia' SubClassOf 'clinical subtype' + 'Posttraumatic syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99854 Label: Cree leukoencephalopathy - 'Cree leukoencephalopathy' SubClassOf 'Congenital or early infantile CACH syndrome' + 'Cree leukoencephalopathy' SubClassOf 'part_of' some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99853 Label: Ovarioleukodystrophy - 'Ovarioleukodystrophy' SubClassOf 'Juvenile or adult CACH syndrome' + 'Ovarioleukodystrophy' SubClassOf 'part_of' some 'CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309162 Label: Sandhoff disease, juvenile form - 'Sandhoff disease, juvenile form' SubClassOf 'clinical subtype' + 'Sandhoff disease, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_206619 Label: Toxic or/and iatrogenic neuropathy - 'Toxic or/and iatrogenic neuropathy' SubClassOf 'disease' - 'Toxic or/and iatrogenic neuropathy' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' + 'Toxic or/and iatrogenic neuropathy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1762 Label: Trisomy Xq28 - 'Trisomy Xq28' SubClassOf 'malformation syndrome' + 'Trisomy Xq28' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_206616 Label: Acquired metabolic neuropathy - 'Acquired metabolic neuropathy' SubClassOf 'disease' - 'Acquired metabolic neuropathy' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' + 'Acquired metabolic neuropathy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309169 Label: Sandhoff disease, adult form - 'Sandhoff disease, adult form' SubClassOf 'clinical subtype' + 'Sandhoff disease, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79458 Label: Oley syndrome - 'Oley syndrome' SubClassOf 'clinical subtype' + 'Oley syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99849 Label: Glycogen storage disease due to muscle beta-enolase deficiency - 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disease' + 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99845 Label: Genetic recurrent myoglobinuria - 'Genetic recurrent myoglobinuria' SubClassOf 'disease' + 'Genetic recurrent myoglobinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99846 Label: Autosomal dominant myoglobinuria - 'Autosomal dominant myoglobinuria' SubClassOf 'disease' + 'Autosomal dominant myoglobinuria' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99843 Label: Leukocyte adhesion deficiency type II - 'Leukocyte adhesion deficiency type II' SubClassOf 'clinical subtype' + 'Leukocyte adhesion deficiency type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_309178 Label: Tay-Sachs disease, B variant, infantile form - 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79447 Label: X-linked lethal multiple pterygium syndrome - 'X-linked lethal multiple pterygium syndrome' SubClassOf 'etiological subtype' + 'X-linked lethal multiple pterygium syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79446 Label: Multiple pterygium syndrome, Aslan type - 'Multiple pterygium syndrome, Aslan type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_255117 Label: Autosomal dominant optic atrophy and late-onset deafness - 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'disease' + 'Autosomal dominant optic atrophy and late-onset deafness' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_121497 Label: ATPase, Na+/K+ transporting, alpha 2 polypeptide - 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' + 'ATPase, Na+/K+ transporting, alpha 2 polypeptide' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alternating hemiplegia of childhood' Class: http://www.orpha.net/ORDO/Orphanet_309185 Label: Tay-Sachs disease, B variant, juvenile form - 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_324262 Label: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' - 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'disease' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'clinical subtype' + 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79433 Label: Oculocutaneous albinism type 3 - 'Oculocutaneous albinism type 3' SubClassOf 'disease' + 'Oculocutaneous albinism type 3' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79432 Label: Oculocutaneous albinism type 2 - 'Oculocutaneous albinism type 2' SubClassOf 'disease' + 'Oculocutaneous albinism type 2' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79435 Label: Oculocutaneous albinism type 4 - 'Oculocutaneous albinism type 4' SubClassOf 'disease' + 'Oculocutaneous albinism type 4' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_79434 Label: Oculocutaneous albinism type 1B - 'Oculocutaneous albinism type 1B' SubClassOf 'clinical subtype' + 'Oculocutaneous albinism type 1B' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79431 Label: Oculocutaneous albinism type 1A - 'Oculocutaneous albinism type 1A' SubClassOf 'clinical subtype' + 'Oculocutaneous albinism type 1A' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_79430 Label: Hermansky-Pudlak syndrome - 'Hermansky-Pudlak syndrome' SubClassOf 'disease' + 'Hermansky-Pudlak syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309111 Label: Combined pancreatic lipase-colipase deficiency - 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'disease' + 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99819 Label: Familial gestational hyperthyroidism - 'Familial gestational hyperthyroidism' SubClassOf 'clinical subtype' + 'Familial gestational hyperthyroidism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99812 Label: LIG4 syndrome - 'LIG4 syndrome' SubClassOf 'clinical subtype' + 'LIG4 syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309115 Label: Disorder of mitochondrial fatty acid oxidation - 'Disorder of mitochondrial fatty acid oxidation' SubClassOf 'group of phenome' + 'Disorder of mitochondrial fatty acid oxidation' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79407 Label: Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type - 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309120 Label: Acyl-CoA dehydrogenase deficiency - 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'group of phenome' + 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_206659 Label: Non-dystrophic myopathy with collagen 6 anomaly - 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'disease' - 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'part_of' some 'Non-dystrophic myopathy' - 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'part_of' some 'Qualitative or quantitative defects of collagen 6' + 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Qualitative or quantitative defects of collagen 6' + 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' + 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_255138 Label: Pyruvate dehydrogenase E1-beta deficiency - 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'clinical subtype' + 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_255132 Label: Adult-onset autosomal recessive sideroblastic anemia - 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'disease' + 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99802 Label: Hemimegalencephaly - 'Hemimegalencephaly' SubClassOf 'clinical subtype' + 'Hemimegalencephaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309127 Label: 3-hydroxyacyl-CoA dehydrogenase deficiency - '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'group of phenome' + '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_79414 Label: Woolly hair nevus - 'Woolly hair nevus' SubClassOf 'clinical subtype' - 'Woolly hair nevus' SubClassOf 'part_of' some 'Woolly hair' + 'Woolly hair nevus' SubClassOf 'disease' + 'Woolly hair nevus' SubClassOf 'part_of' some 'Isolated hair shaft abnormality' Class: http://www.orpha.net/ORDO/Orphanet_309133 Label: Metabolic disease due to other fatty acid oxidation disorder - 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'group of phenome' + 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309136 Label: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'group of phenome' + 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_309130 Label: Disorder of carnitine cycle and carnitine transport - 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'group of phenome' + 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_1792 Label: Humerospinal dysostosis - 'Humerospinal dysostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1791 Label: Fronto-facio-nasal dysostosis - 'Fronto-facio-nasal dysostosis' SubClassOf 'part_of' some 'Dysostosis with predominant craniofacial involvement' + 'Fronto-facio-nasal dysostosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_391479 Class: http://www.orpha.net/ORDO/Orphanet_309147 Label: Hyper-beta-alaninemia - 'Hyper-beta-alaninemia' SubClassOf 'disease' + 'Hyper-beta-alaninemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_309144 Label: Gangliosidosis - 'Gangliosidosis' SubClassOf 'group of phenome' + 'Gangliosidosis' SubClassOf 'group of phenome' Class: http://www.orpha.net/ORDO/Orphanet_98730 Label: Atrioventricular discordance - 'Atrioventricular discordance' SubClassOf 'group of phenome' - 'Atrioventricular discordance' SubClassOf 'Congenital heart malformation' + 'Atrioventricular discordance' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_103919 Label: Autoimmune pancreatitis - 'Autoimmune pancreatitis' SubClassOf 'Immunoglobulin G4-related sclerosing disease' + 'Autoimmune pancreatitis' SubClassOf 'part_of' some 'Immunoglobulin G4-related sclerosing disease' Class: http://www.orpha.net/ORDO/Orphanet_103907 Label: Chronic diarrhea due to glucoamylase deficiency - 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disease' + 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_103909 Label: Diarrhea-vomiting due to trehalase deficiency - 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disease' + 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_98770 Label: Spinocerebellar ataxia type 16 - 'Spinocerebellar ataxia type 16' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_309192 Label: Tay-Sachs disease, B variant, adult form - 'Tay-Sachs disease, B variant, adult form' SubClassOf 'clinical subtype' + 'Tay-Sachs disease, B variant, adult form' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_206606 Label: Other muscle weakness and/or chronic muscle pain - 'Other muscle weakness and/or chronic muscle pain' SubClassOf 'Qualitative or quantitative defects of dystrophin' - 'Other muscle weakness and/or chronic muscle pain' SubClassOf 'group of phenome' + 'Other muscle weakness and/or chronic muscle pain' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_298644 Label: Disorder of thiamin metabolism and transport - 'Disorder of thiamin metabolism and transport' SubClassOf 'group of phenome' + 'Disorder of thiamin metabolism and transport' SubClassOf 'group of phenome' 2. New Classes: Class: http://www.orpha.net/ORDO/Orphanet_183536 Label: Genetic congenital limb malformation + 'Genetic congenital limb malformation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1417 Label: Platyspondylic lethal chondrodysplasia + 'Platyspondylic lethal chondrodysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139015 Label: Chondrodysplastic malformation syndrome + 'Chondrodysplastic malformation syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139018 Label: Non-chondrodysplastic malformation syndrome affecting bones + 'Non-chondrodysplastic malformation syndrome affecting bones' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139006 Label: Sequence or association + 'Sequence or association' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394081 Label: lipoyltransferase 1 + 'lipoyltransferase 1' SubClassOf 'gene' + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_394137 Label: corticotropin releasing hormone + 'corticotropin releasing hormone' SubClassOf 'gene' + 'corticotropin releasing hormone' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nocturnal frontal lobe epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_390922 Label: growth factor independent 1B transcription repressor + 'growth factor independent 1B transcription repressor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gray platelet syndrome' + 'growth factor independent 1B transcription repressor' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_124137 Label: proprotein convertase subtilisin/kexin type 9 + 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1526 Label: Craniosynostosis - synostoses - hypertensive nephropathy + 'Craniosynostosis - synostoses - hypertensive nephropathy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1534 Label: Craniosynostosis-radial aplasia, Imaizumi type + 'Craniosynostosis-radial aplasia, Imaizumi type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_392281 Label: tyrosine kinase, non-receptor, 2 + 'tyrosine kinase, non-receptor, 2' SubClassOf 'gene' + 'tyrosine kinase, non-receptor, 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' Class: http://www.orpha.net/ORDO/Orphanet_392296 Label: sideroflexin 4 + 'sideroflexin 4' SubClassOf 'gene' + 'sideroflexin 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_392290 Label: plastin 3 + 'plastin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked osteoporosis with fractures' + 'plastin 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_50838 Label: Carpal tunnel syndrome + 'Carpal tunnel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_392264 Label: TELO2 interacting protein 2 + 'TELO2 interacting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' + 'TELO2 interacting protein 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1211 Label: Atrichia - mental and growth delay + 'Atrichia - mental and growth delay' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_363629 Label: GMPPB-related congenital muscular dystrophy + 'GMPPB-related congenital muscular dystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2284 Label: Primary T cell immunodeficiency + 'Primary T cell immunodeficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93566 Label: Pediatric Sj?gren syndrome + 'Pediatric Sj?gren syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_183672 Label: Common variable immunodeficiency due to TNFR deficiency + 'Common variable immunodeficiency due to TNFR deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_352699 Label: Cobblestone lissencephaly type C + 'Cobblestone lissencephaly type C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_352694 Label: Cobblestone lissencephaly type A + 'Cobblestone lissencephaly type A' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_123021 Label: low density lipoprotein receptor + 'low density lipoprotein receptor' SubClassOf 'gene' + 'low density lipoprotein receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' Class: http://www.orpha.net/ORDO/Orphanet_123023 Label: low density lipoprotein receptor adaptor protein 1 + 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'low density lipoprotein receptor adaptor protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_183604 Label: Rare genetic glaucoma + 'Rare genetic glaucoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_392330 Label: armadillo repeat containing 5 + 'armadillo repeat containing 5' SubClassOf 'gene' + 'armadillo repeat containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'ACTH-independent macronodular adrenal hyperplasia' Class: http://www.orpha.net/ORDO/Orphanet_392307 Label: atlastin GTPase 3 + 'atlastin GTPase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 1' + 'atlastin GTPase 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_352704 Label: Cobblestone lissencephaly type B + 'Cobblestone lissencephaly type B' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1339 Label: Cranioacrofacial syndrome + 'Cranioacrofacial syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2458 Label: Mandibulofacial dysostosis - deafness - postaxial polydactyly + 'Mandibulofacial dysostosis - deafness - postaxial polydactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_395106 Label: STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cerebellar ataxia - hypogonadism' + 'STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1057 Label: Intracranial aneurysms - multiple congenital anomalies + 'Intracranial aneurysms - multiple congenital anomalies' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_329206 Label: Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit + 'Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_231205 Label: Common variable immunodeficiency without known genetic defect + 'Common variable immunodeficiency without known genetic defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99139 Label: Unstable hemoglobin disease + 'Unstable hemoglobin disease' SubClassOf 'disease' + 'Unstable hemoglobin disease' SubClassOf 'part_of' some 'Hemoglobinopathy' Class: http://www.orpha.net/ORDO/Orphanet_396650 Label: PET100 homolog (S. cerevisiae) + 'PET100 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'PET100 homolog (S. cerevisiae)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_396654 Label: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated cytochrome C oxidase deficiency' + 'NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_99143 Label: Mandibulofacial dysostosis - lymphedema syndrome + 'Mandibulofacial dysostosis - lymphedema syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99126 Label: Pulmonary vein atresia + 'Pulmonary vein atresia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2507 Label: Mickleson syndrome + 'Mickleson syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99151 Label: Hippocampal tauopathy in cerebral aging + 'Hippocampal tauopathy in cerebral aging' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_100072 Label: True vascular thoracic outlet syndrome + 'True vascular thoracic outlet syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1153 Label: Transient neonatal arthrogryposis + 'Transient neonatal arthrogryposis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391022 Label: protein Z, vitamin K-dependent plasma glycoprotein + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'gene' + 'protein Z, vitamin K-dependent plasma glycoprotein' SubClassOf 'Candidate gene tested in' some 'Cerebral sinovenous thrombosis' Class: http://www.orpha.net/ORDO/Orphanet_77303 Label: Common variable immunodeficiency due to an intrinsic B cell defect + 'Common variable immunodeficiency due to an intrinsic B cell defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2626 Label: Hypopituitarism - short stature - skeletal anomalies + 'Hypopituitarism - short stature - skeletal anomalies' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2694 Label: Epidermal nevus - vitamin D resistant rickets + 'Epidermal nevus - vitamin D resistant rickets' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93435 Label: Moderate spondylodysplastic dysplasia + 'Moderate spondylodysplastic dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93427 Label: Metatropic dysplasias + 'Metatropic dysplasias' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93456 Label: Brachydactyly group + 'Brachydactyly group' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93452 Label: Craniosynostosis syndrome or cranial ossification disease + 'Craniosynostosis syndrome or cranial ossification disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93445 Label: Bone disease with increased bone density and metaphyseal or diaphyseal involvement + 'Bone disease with increased bone density and metaphyseal or diaphyseal involvement' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93472 Label: Dysmorphic syndrome associated with bone anomaly + 'Dysmorphic syndrome associated with bone anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93471 Label: Miscellaneous metabolic disease associated with bone anomaly + 'Miscellaneous metabolic disease associated with bone anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93470 Label: Dysharmonic micromelia + 'Dysharmonic micromelia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93469 Label: Harmonic micromelia + 'Harmonic micromelia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_240857 Label: Carbamazepine toxicity + 'Carbamazepine toxicity' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2765 Label: Hypertrichotic osteochondrodysplasia + 'Hypertrichotic osteochondrodysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2706 Label: Oculo-cerebro-acral syndrome + 'Oculo-cerebro-acral syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2708 Label: Oculo-cerebro-osseous syndrome + 'Oculo-cerebro-osseous syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90345 Label: Unclassified metaphyseal chondrodysplasia + 'Unclassified metaphyseal chondrodysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_235838 Label: Congenital vascular bone syndrome with limb shortening + 'Congenital vascular bone syndrome with limb shortening' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2861 Label: Short stature - microcephaly - heart defect + 'Short stature - microcephaly - heart defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2864 Label: Short stature - prognathism - short femoral necks + 'Short stature - prognathism - short femoral necks' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2860 Label: Preeyasombat-Varavithya syndrome + 'Preeyasombat-Varavithya syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_395071 Label: Yes-associated protein 1 + 'Yes-associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Uveal coloboma - cleft lip and palate - intellectual disability' + 'Yes-associated protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_395065 Label: integrin, alpha 8 + 'integrin, alpha 8' SubClassOf 'gene' + 'integrin, alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_395056 Label: post-GPI attachment to proteins 3 + 'post-GPI attachment to proteins 3' SubClassOf 'gene' + 'post-GPI attachment to proteins 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_235835 Label: Congenital vascular bone syndrome with limb overgrowth + 'Congenital vascular bone syndrome with limb overgrowth' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98064 Label: Rare disease in physical medicine and rehabilitation + 'Rare disease in physical medicine and rehabilitation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_252 Label: Spondyloepimetaphyseal dysplasia + 'Spondyloepimetaphyseal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391392 Label: Familial episodic pain syndrome with predominantly lower limb involvement + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'part_of' some 'Familial episodic pain syndrome' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'clinical subtype' + 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_391397 Label: Hereditary sensory and autonomic neuropathy type 7 + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'disease' + 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_391389 Label: Familial episodic pain syndrome with predominantly upper body involvement + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'clinical subtype' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'part_of' some 'Familial episodic pain syndrome' + 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391384 Label: Familial episodic pain syndrome + 'Familial episodic pain syndrome' SubClassOf 'part_of' some 'Genetic peripheral neuropathy' + 'Familial episodic pain syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial episodic pain syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial episodic pain syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Familial episodic pain syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391381 Label: Disorder of asparagine metabolism + 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' + 'Disorder of asparagine metabolism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_391376 Label: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'part_of' some 'Disorder of asparagine metabolism' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'disease' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391372 Label: Intellectual disability-severe speech delay-mild dysmorphism syndrome + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_391366 Label: Growth retardation-mild developmental delay-chronic hepatitis syndrome + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' + 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_391348 Label: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'disease' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_391351 Label: SURF1-related Charcot-Marie-Tooth disease type 4 + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'disease' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 4' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391343 Label: Fatal post-viral neurodegenerative disorder + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Brain inflammatory disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Fatal post-viral neurodegenerative disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391327 Label: X-linked calvarial hyperostosis + 'X-linked calvarial hyperostosis' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'X-linked calvarial hyperostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'X-linked calvarial hyperostosis' SubClassOf 'disease' + 'X-linked calvarial hyperostosis' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked calvarial hyperostosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391330 Label: X-linked osteoporosis with fractures + 'X-linked osteoporosis with fractures' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked osteoporosis with fractures' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' + 'X-linked osteoporosis with fractures' SubClassOf 'disease' + 'X-linked osteoporosis with fractures' SubClassOf 'has_inheritance' some 'x linked recessive' + 'X-linked osteoporosis with fractures' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_391333 Label: tenascin C + 'tenascin C' SubClassOf 'gene' + 'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nonsyndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_391316 Label: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'part_of' some 'Infantile epilepsy syndrome' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'disease' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_391320 Label: East Texas bleeding disorder + 'East Texas bleeding disorder' SubClassOf 'disease' + 'East Texas bleeding disorder' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'East Texas bleeding disorder' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'East Texas bleeding disorder' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_391307 Label: Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_391311 Label: Susceptibility to viral and mycobacterial infections + 'Susceptibility to viral and mycobacterial infections' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Susceptibility to viral and mycobacterial infections' SubClassOf 'disease' + 'Susceptibility to viral and mycobacterial infections' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_391408 Label: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare insulin-independent diabetes mellitus' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'disease' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' + 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_391411 Label: Atypical juvenile parkinsonism + 'Atypical juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' + 'Atypical juvenile parkinsonism' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Atypical juvenile parkinsonism' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Atypical juvenile parkinsonism' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Atypical juvenile parkinsonism' SubClassOf 'part_of' some 'Rare parkinsonian syndrome due to neurodegenerative disease' + 'Atypical juvenile parkinsonism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391417 Label: HSD10 disease + 'HSD10 disease' SubClassOf 'disease' + 'HSD10 disease' SubClassOf 'part_of' some 'Cerebral organic aciduria' + 'HSD10 disease' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' + 'HSD10 disease' SubClassOf 'part_of' some 'Neurometabolic disease' + 'HSD10 disease' SubClassOf 'has_inheritance' some 'x linked recessive' Class: http://www.orpha.net/ORDO/Orphanet_97365 Label: Solitary renal cyst + 'Solitary renal cyst' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99651 Label: Non-pore-loop channelopathy involved in other renal tubular disorder + 'Non-pore-loop channelopathy involved in other renal tubular disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99650 Label: Non-pore-loop channelopathy involved in several types of epilepsy + 'Non-pore-loop channelopathy involved in several types of epilepsy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99648 Label: Non-progressive congenital heart block + 'Non-progressive congenital heart block' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99649 Label: Generalized epilepsy and praxis-induced seizures + 'Generalized epilepsy and praxis-induced seizures' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394916 Label: adducin 3 (gamma) + 'adducin 3 (gamma)' SubClassOf 'gene' + 'adducin 3 (gamma)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited congenital spastic tetraplegia' Class: http://www.orpha.net/ORDO/Orphanet_394920 Label: ubiquinol-cytochrome c reductase complex assembly factor 2 + 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf 'gene' + 'ubiquinol-cytochrome c reductase complex assembly factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated CoQ-cytochrome C reductase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_391479 Label: Syndromic frontonasal dysplasia + 'Syndromic frontonasal dysplasia' SubClassOf 'group of disorders' + 'Syndromic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391468 Label: phosphate cytidylyltransferase 1, choline, alpha + 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia - cone-rod dystrophy' + 'phosphate cytidylyltransferase 1, choline, alpha' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_391474 Label: Isolated frontonasal dysplasia + 'Isolated frontonasal dysplasia' SubClassOf 'malformation syndrome' + 'Isolated frontonasal dysplasia' SubClassOf 'part_of' some 'Median facial cleft' + 'Isolated frontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_391497 Label: Juvenile myasthenia gravis + 'Juvenile myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Juvenile myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' + 'Juvenile myasthenia gravis' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_391490 Label: Adult-onset myasthenia gravis + 'Adult-onset myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Adult-onset myasthenia gravis' SubClassOf 'clinical subtype' + 'Adult-onset myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_391428 Label: HSD10 disease, infantile type + 'HSD10 disease, infantile type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'HSD10 disease, infantile type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'HSD10 disease, infantile type' SubClassOf 'part_of' some 'HSD10 disease' + 'HSD10 disease, infantile type' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_391457 Label: HSD10 disease, neonatal type + 'HSD10 disease, neonatal type' SubClassOf 'has_inheritance' some 'x linked recessive' + 'HSD10 disease, neonatal type' SubClassOf 'part_of' some 'HSD10 disease' + 'HSD10 disease, neonatal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'HSD10 disease, neonatal type' SubClassOf 'clinical subtype' + 'HSD10 disease, neonatal type' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_328269 Label: Rare bone disease with limb reduction defect + 'Rare bone disease with limb reduction defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391504 Label: Transient neonatal myasthenia gravis + 'Transient neonatal myasthenia gravis' SubClassOf 'clinical subtype' + 'Transient neonatal myasthenia gravis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Transient neonatal myasthenia gravis' SubClassOf 'part_of' some 'Myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_394899 Label: neuroblastoma amplified sequence + 'neuroblastoma amplified sequence' SubClassOf 'gene' + 'neuroblastoma amplified sequence' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_101036 Label: Zlotogura-Martinez syndrome + 'Zlotogura-Martinez syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_163678 Label: Unclassified spondylometaphyseal dysplasia + 'Unclassified spondylometaphyseal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394877 Label: midline 2 + 'midline 2' SubClassOf 'gene' + 'midline 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_489 Label: Thyroglossal duct cyst + 'Thyroglossal duct cyst' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_36414 Label: Brain stem tumor + 'Brain stem tumor' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_297634 Label: macrophage scavenger receptor 1 + 'macrophage scavenger receptor 1' SubClassOf 'gene' + 'macrophage scavenger receptor 1' SubClassOf 'Major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_98204 Label: Heredodegenerative disease with dystonia as a major feature + 'Heredodegenerative disease with dystonia as a major feature' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_294961 Label: Syndromes with synostoses of limbs + 'Syndromes with synostoses of limbs' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391646 Label: Feingold syndrome type 2 + 'Feingold syndrome type 2' SubClassOf 'part_of' some 'Feingold syndrome' + 'Feingold syndrome type 2' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Feingold syndrome type 2' SubClassOf 'clinical subtype' + 'Feingold syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Feingold syndrome type 2' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_391651 Label: Glomus tumor + 'Glomus tumor' SubClassOf 'part_of' some 'Rare soft tissue tumor' + 'Glomus tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Glomus tumor' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_391658 Label: Cowpox infection + 'Cowpox infection' SubClassOf 'part_of' some 'Rare viral disease' + 'Cowpox infection' SubClassOf 'disease' + 'Cowpox infection' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_391627 Label: eukaryotic translation initiation factor 2 alpha kinase 4 + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary venoocclusive disease' + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_391631 Label: phosphatidylserine synthase 1 + 'phosphatidylserine synthase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lenz-Majewski hyperostotic dwarfism' + 'phosphatidylserine synthase 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_391641 Label: Feingold syndrome type 1 + 'Feingold syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Feingold syndrome type 1' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Feingold syndrome type 1' SubClassOf 'part_of' some 'Feingold syndrome' + 'Feingold syndrome type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Feingold syndrome type 1' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_391684 Label: calreticulin + 'calreticulin' SubClassOf 'gene' + 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'calreticulin' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Myelofibrosis with myeloid metaplasia' Class: http://www.orpha.net/ORDO/Orphanet_391677 Label: Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'malformation syndrome' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic optic atrophy' + 'Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_391665 Label: Homozygous familial hypercholesterolemia + 'Homozygous familial hypercholesterolemia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Homozygous familial hypercholesterolemia' SubClassOf 'disease' + 'Homozygous familial hypercholesterolemia' SubClassOf 'part_of' some 'Rare hyperlipidemia' Class: http://www.orpha.net/ORDO/Orphanet_391711 Label: Persistent combined dystonia + 'Persistent combined dystonia' SubClassOf 'group of disorders' + 'Persistent combined dystonia' SubClassOf 'Combined dystonia' Class: http://www.orpha.net/ORDO/Orphanet_391723 Label: Mucinous adenocarcinoma of the appendix + 'Mucinous adenocarcinoma of the appendix' SubClassOf 'part_of' some 'Intestinal tumor' + 'Mucinous adenocarcinoma of the appendix' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_68388 Label: Neurofibromatosis + 'Neurofibromatosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_352482 Label: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement + 'Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3313 Label: Intellectual deficit - microcephaly - unusual facies + 'Intellectual deficit - microcephaly - unusual facies' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_140936 Label: Lelis syndrome + 'Lelis syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lelis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Lelis syndrome' SubClassOf 'malformation syndrome' + 'Lelis syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3340 Label: Torres-Aybar syndrome + 'Torres-Aybar syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391799 Label: Rare genetic dystonia + 'Rare genetic dystonia' SubClassOf 'group of disorders' + 'Rare genetic dystonia' SubClassOf 'Rare genetic movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_1823 Label: Localized epiphyseal dysplasia + 'Localized epiphyseal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_332185 Label: mannan-binding lectin serine peptidase 2 + 'mannan-binding lectin serine peptidase 2' SubClassOf 'gene' + 'mannan-binding lectin serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Immunodeficiency due to MASP-2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1800 Label: Craniofaciocervical osteoglyphic dysplasia + 'Craniofaciocervical osteoglyphic dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391813 Label: protein O-glucosyltransferase 1 + 'protein O-glucosyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dowling-Degos disease' + 'protein O-glucosyltransferase 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_390766 Label: grainyhead-like 3 (Drosophila) + 'grainyhead-like 3 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Van der Woude syndrome' + 'grainyhead-like 3 (Drosophila)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_390756 Label: eukaryotic translation initiation factor 4A3 + 'eukaryotic translation initiation factor 4A3' SubClassOf 'gene' + 'eukaryotic translation initiation factor 4A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Richieri Costa-Pereira syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391804 Label: phosphodiesterase 6D, cGMP-specific, rod, delta + 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf 'gene' + 'phosphodiesterase 6D, cGMP-specific, rod, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' Class: http://www.orpha.net/ORDO/Orphanet_390746 Label: BBSome interacting protein 1 + 'BBSome interacting protein 1' SubClassOf 'gene' + 'BBSome interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_390741 Label: centrosome and spindle pole associated protein 1 + 'centrosome and spindle pole associated protein 1' SubClassOf 'gene' + 'centrosome and spindle pole associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99985 Label: Familial restrictive cardiomyopathy type 1 + 'Familial restrictive cardiomyopathy type 1' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99986 Label: Familial restrictive cardiomyopathy type 2 + 'Familial restrictive cardiomyopathy type 2' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394529 Label: Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'clinical subtype' + 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'part_of' some 'Multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_394532 Label: Multiple acyl-CoA dehydrogenation deficiency, mild type + 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'clinical subtype' + 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'part_of' some 'Multiple acyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_99974 Label: TACI-related selective deficiency of IgA + 'TACI-related selective deficiency of IgA' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99973 Label: Immunoglobulin A2 deficiency + 'Immunoglobulin A2 deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99972 Label: Immunoglobulin A1 deficiency + 'Immunoglobulin A1 deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_719 Label: Pili canulati + 'Pili canulati' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394580 Label: SH2B adaptor protein 3 + 'SH2B adaptor protein 3' SubClassOf 'gene' + 'SH2B adaptor protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_394593 Label: asparagine synthetase (glutamine-hydrolyzing) + 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf 'gene' + 'asparagine synthetase (glutamine-hydrolyzing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_394596 Label: transient receptor potential cation channel, subfamily A, member 1 + 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial episodic pain syndrome with predominantly upper body involvement' + 'transient receptor potential cation channel, subfamily A, member 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_3284 Label: Tachycardia - hypertension - microphthalmos - hyperglycinuria + 'Tachycardia - hypertension - microphthalmos - hyperglycinuria' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_261512 Label: Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3 + 'Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_331187 Label: Immunodeficiency due to MASP-2 deficiency + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'part_of' some 'Immunodeficiency due to a complement cascade protein anomaly' + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_3228 Label: Neurosensory deafness - pituitary dwarfism + 'Neurosensory deafness - pituitary dwarfism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3229 Label: Deafness - peripheral neuropathy - arterial disease + 'Deafness - peripheral neuropathy - arterial disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_390869 Label: catenin (cadherin-associated protein), alpha 3 + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'gene' + 'catenin (cadherin-associated protein), alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' Class: http://www.orpha.net/ORDO/Orphanet_391994 Label: nuclear mitotic apparatus protein 1 + 'nuclear mitotic apparatus protein 1' SubClassOf 'gene' + 'nuclear mitotic apparatus protein 1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_391986 Label: zinc finger and BTB domain containing 16 + 'zinc finger and BTB domain containing 16' SubClassOf 'gene' + 'zinc finger and BTB domain containing 16' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_3153 Label: Adolescent idiopathic scoliosis + 'Adolescent idiopathic scoliosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_395960 Label: chromosome 11 open reading frame 95 + 'chromosome 11 open reading frame 95' SubClassOf 'gene' + 'chromosome 11 open reading frame 95' SubClassOf 'Part of a fusion gene in' some 'Anaplastic ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_395954 Label: v-rel avian reticuloendotheliosis viral oncogene homolog A + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'gene' + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'Part of a fusion gene in' some 'Anaplastic ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_395930 Label: inhibin, beta A + 'inhibin, beta A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ovarian adenocarcinoma' + 'inhibin, beta A' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_121386 Label: apolipoprotein B + 'apolipoprotein B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous familial hypercholesterolemia' + 'apolipoprotein B' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_395886 Label: adrenoceptor alpha 2B + 'adrenoceptor alpha 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy' + 'adrenoceptor alpha 2B' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1651 Label: Dennis-Cohen syndrome + 'Dennis-Cohen syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_218432 Label: Familial restrictive cardiomyopathy type 3 + 'Familial restrictive cardiomyopathy type 3' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98629 Label: Rare glaucoma + 'Rare glaucoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_396032 Label: cat eye syndrome chromosome region, candidate 1 + 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pediatric polyarteritis nodosa' + 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_953 Label: Acromesomelic dysplasia, Brahimi-Bacha type + 'Acromesomelic dysplasia, Brahimi-Bacha type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99864 Label: Classic seminoma + 'Classic seminoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99866 Label: Metastatic spermatocytic seminoma + 'Metastatic spermatocytic seminoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394615 Label: synaptojanin 1 + 'synaptojanin 1' SubClassOf 'gene' + 'synaptojanin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism' Class: http://www.orpha.net/ORDO/Orphanet_99831 Label: Common variable immunodeficiency due to an intrinsic T cell defect + 'Common variable immunodeficiency due to an intrinsic T cell defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79429 Label: Familial spinal neurofibromatosis + 'Familial spinal neurofibromatosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79428 Label: Familial segmental neurofibromatosis + 'Familial segmental neurofibromatosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_394606 Label: tRNA methyltransferase 10 homolog A (S. cerevisiae) + 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf 'gene' + 'tRNA methyltransferase 10 homolog A (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1789 Label: Craniofacial dysostosis - arthrogryposis - progeroid appearance + 'Craniofacial dysostosis - arthrogryposis - progeroid appearance' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98726 Label: Pulmonary artery/pulmonary branch anomaly + 'Pulmonary artery/pulmonary branch anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98734 Label: Cardioskeletal syndrome + 'Cardioskeletal syndrome' SubClassOf 'obsolete_class' 3. Deleted Classes: Class: http://www.orpha.net/ORDO/Orphanet_168972 Label: Kahrizi syndrome + 'Kahrizi syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1474 Label: Colobomatous - microphthalmia - heart disease - hearing loss + 'Colobomatous - microphthalmia - heart disease - hearing loss' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1432 Label: Autosomal dominant chorioretinopathy - microcephaly + 'Autosomal dominant chorioretinopathy - microcephaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1401 Label: CHAND syndrome + 'CHAND syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2125 Label: Sacral hemangiomas - multiple congenital abnormalities + 'Sacral hemangiomas - multiple congenital abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2113 Label: Congenital hypothalamic hamartoma syndrome + 'Congenital hypothalamic hamartoma syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_97552 Label: Steroid-sensitive nephrotic syndrome without renal biopsy + 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf 'etiological subtype' + 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf 'part_of' some 'Idiopathic steroid-sensitive nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1557 Label: Cutis verticis gyrata - intellectual deficit + 'Cutis verticis gyrata - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1569 Label: De Sanctis-Cacchione syndrome + 'De Sanctis-Cacchione syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2174 Label: Hunter-Carpenter-McDonald syndrome + 'Hunter-Carpenter-McDonald syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93943 Label: Corpus callosum dysgenesis - hypopituitarism + 'Corpus callosum dysgenesis - hypopituitarism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93944 Label: X-linked intellectual deficit, Fichera type + 'X-linked intellectual deficit, Fichera type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93968 Label: Meningocele + 'Meningocele' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_285763 Label: molybdenum cofactor synthesis 3 + 'molybdenum cofactor synthesis 3' SubClassOf 'gene' + 'molybdenum cofactor synthesis 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_2244 Label: Hypopituitarism - microphthalmia + 'Hypopituitarism - microphthalmia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2243 Label: Hypopituitarism - micropenis - cleft lip/palate + 'Hypopituitarism - micropenis - cleft lip/palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2245 Label: Hypopituitarism - postaxial polydactyly + 'Hypopituitarism - postaxial polydactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_217315 Label: Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness + 'Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90649 Label: Oral-facial-digital syndrome type 7 + 'Oral-facial-digital syndrome type 7' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1245 Label: BIDS syndrome + 'BIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3391 Label: Odonto-onycho-hypohidrotic dysplasia - midline scalp defects + 'Odonto-onycho-hypohidrotic dysplasia - midline scalp defects' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1251 Label: Blepharo-facio-skeletal syndrome + 'Blepharo-facio-skeletal syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1219 Label: Aurocephalosyndactyly + 'Aurocephalosyndactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1235 Label: Ectodermal dysplasia - absent dermatoglyphs + 'Ectodermal dysplasia - absent dermatoglyphs' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_50816 Label: Spondylometaphyseal dysplasia with combined immunodeficiency + 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1271 Label: Bowen syndrome + 'Bowen syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_157855 Label: HARP syndrome + 'HARP syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98968 Label: Central discoid corneal dystrophy + 'Central discoid corneal dystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2389 Label: Lewis-Pashayan syndrome + 'Lewis-Pashayan syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2355 Label: Kumar-Levick syndrome + 'Kumar-Levick syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3438 Label: Biliary tract malformation - renal failure + 'Biliary tract malformation - renal failure' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3423 Label: Vasquez-Hurst-Sotos syndrome + 'Vasquez-Hurst-Sotos syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98812 Label: Paroxysmal hypnogenic dyskinesia + 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'disease' + 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'part_of' some 'Paroxysmal dyskinesia' + 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_1301 Label: Bronchiectasis - oligospermia + 'Bronchiectasis - oligospermia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1317 Label: CAMFAK syndrome + 'CAMFAK syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98894 Label: Congenital muscular dystrophy type 1D + 'Congenital muscular dystrophy type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98861 Label: Primary ciliary dyskinesia, Kartagener type + 'Primary ciliary dyskinesia, Kartagener type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2453 Label: Malpuech syndrome + 'Malpuech syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2419 Label: Lymphedema - ptosis + 'Lymphedema - ptosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_91129 Label: Anophthalmia - heart and pulmonary anomalies - intellectual deficit + 'Anophthalmia - heart and pulmonary anomalies - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_231256 Label: Beta-thalassemia - trichothiodystrophy + 'Beta-thalassemia - trichothiodystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1019 Label: Epstein syndrome + 'Epstein syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1011 Label: Alopecia - hypogonadism - extrapyramidal disorder + 'Alopecia - hypogonadism - extrapyramidal disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_85281 Label: Intellectual deficit, X-linked, Lubs type + 'Intellectual deficit, X-linked, Lubs type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2506 Label: Michels syndrome + 'Michels syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_75790 Label: Pollitt syndrome + 'Pollitt syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_75789 Label: SIBIDS syndrome + 'SIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2569 Label: Moore-Federman syndrome + 'Moore-Federman syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1171 Label: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1102 Label: Anophthalmia - hypothalamo-pituitary insufficiency + 'Anophthalmia - hypothalamo-pituitary insufficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_123590 Label: MAX interactor 1, dimerization protein + 'MAX interactor 1, dimerization protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial prostate cancer' + 'MAX interactor 1, dimerization protein' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1060 Label: Angiomatosis systemic cystic - Seip syndrome + 'Angiomatosis systemic cystic - Seip syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2640 Label: Short limb-dwarf lethal, McAlister-Crane type + 'Short limb-dwarf lethal, McAlister-Crane type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2654 Label: Syndesmodysplasic dwarfism + 'Syndesmodysplasic dwarfism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2661 Label: Dwarfism - tall vertebrae + 'Dwarfism - tall vertebrae' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_56965 Label: Progressive bulbar paralysis of childhood + 'Progressive bulbar paralysis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2687 Label: Neutropenia - hyperlymphocytosis with large granular lymphocytes + 'Neutropenia - hyperlymphocytosis with large granular lymphocytes' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2689 Label: Intermittent neutropenia + 'Intermittent neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2691 Label: Nevo syndrome + 'Nevo syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_210566 Label: Myoclonic dystonia 15 + 'Myoclonic dystonia 15' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_178503 Label: Dursun syndrome + 'Dursun syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2775 Label: Autosomal recessive carpotarsal osteolysis + 'Autosomal recessive carpotarsal osteolysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_377530 Label: formin 2 + 'formin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant nonsyndromic intellectual deficit' + 'formin 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2739 Label: Onycho-tricho-dysplasia - neutropenia + 'Onycho-tricho-dysplasia - neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_37629 Label: Neonatal neutropenia + 'Neonatal neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90341 Label: Early-onset sarcoidosis + 'Early-onset sarcoidosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90338 Label: Margarita island ectodermal dysplasia + 'Margarita island ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77241 Label: Lymphedema praecox + 'Lymphedema praecox' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77242 Label: Lymphedema tarda + 'Lymphedema tarda' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_89833 Label: Palmoplantar keratoderma with tonotubular keratin + 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_54238 Label: Myotonic dystrophy type 3 + 'Myotonic dystrophy type 3' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_85333 Label: Intellectual deficit, X-linked - Spastic paraplegia with iron deposits + 'Intellectual deficit, X-linked - Spastic paraplegia with iron deposits' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2895 Label: Pinsky-Di George-Harley syndrome + 'Pinsky-Di George-Harley syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_216989 Label: Autosomal dominant dystrophic epidermolysis bullosa, Pasini type + 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2829 Label: Partington-Anderson syndrome + 'Partington-Anderson syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93280 Label: Spondyloepiphyseal dysplasia, Omani type + 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2853 Label: Serpentine fibula - polycystic kidneys + 'Serpentine fibula - polycystic kidneys' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93275 Label: Thanatophoric dysplasia, Glasgow variant + 'Thanatophoric dysplasia, Glasgow variant' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_63269 Label: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_272 Label: Congenital muscular dystrophy, Fukuyama type + 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2998 Label: Carnevale syndrome + 'Carnevale syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_35123 Label: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_prevalence' some 'Unknown' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disease' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Muscular lipidosis' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some 'Syndromic neurometabolic disease with X-linked intellectual deficit' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'has_inheritance' some 'x linked recessive' + 'Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'part_of' some '3-hydroxyacyl-CoA dehydrogenase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_101151 Label: Dystonia 14 + 'Dystonia 14' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99694 Label: Alveolar synechia - ankyloblepharon - ectodermal dysplasia + 'Alveolar synechia - ankyloblepharon - ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101107 Label: Spinocerebellar ataxia type 22 + 'Spinocerebellar ataxia type 22' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_431 Label: Ichthyosis - male hypogonadism + 'Ichthyosis - male hypogonadism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_453 Label: IBIDS syndrome + 'IBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_163673 Label: Spondyloepiphyseal dysplasia, Byers type + 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_496 Label: Thost-Unna palmoplantar keratoderma + 'Thost-Unna palmoplantar keratoderma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_286610 Label: membrane associated guanylate kinase, WW and PDZ domain containing 2 + 'membrane associated guanylate kinase, WW and PDZ domain containing 2' SubClassOf 'gene' + 'membrane associated guanylate kinase, WW and PDZ domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88636 Label: Aortic dilatation - joint hypermobility - arterial tortuosity + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'disease' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare genetic vascular disease' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Marfan and Marfan-related disorder' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare vascular disease' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_52428 Label: Congenital muscular dystrophy type 1C + 'Congenital muscular dystrophy type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_330759 Label: calmodulin 2 (phosphorylase kinase, delta) + 'calmodulin 2 (phosphorylase kinase, delta)' SubClassOf 'gene' + 'calmodulin 2 (phosphorylase kinase, delta)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137862 Label: Martinez-Frias syndrome + 'Martinez-Frias syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_97295 Label: Furlong syndrome + 'Furlong syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_623 Label: NAME syndrome + 'NAME syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_638 Label: Neurofibromatosis - Noonan syndrome + 'Neurofibromatosis - Noonan syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_670 Label: PIBIDS syndrome + 'PIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_680 Label: Normokalemic periodic paralysis + 'Normokalemic periodic paralysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3349 Label: Treft-Sanborn-Carey syndrome + 'Treft-Sanborn-Carey syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3333 Label: Connective tissue dysplasia, Spellacy type + 'Connective tissue dysplasia, Spellacy type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1831 Label: De Hauwere syndrome + 'De Hauwere syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79482 Label: Cutis verticis gyrata - thyroid aplasia - intellectual deficit + 'Cutis verticis gyrata - thyroid aplasia - intellectual deficit' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1807 Label: Facial ectodermal dysplasia + 'Facial ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_159968 Label: hyperparathyroidism 1 + 'hyperparathyroidism 1' SubClassOf 'gene' + 'hyperparathyroidism 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated hyperparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_1889 Label: Ectrodactyly - cleft palate + 'Ectrodactyly - cleft palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1888 Label: Ectrodactyly - ectodermal dysplasia without clefting + 'Ectrodactyly - ectodermal dysplasia without clefting' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3274 Label: Granulomatous arthritis of childhood + 'Granulomatous arthritis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3271 Label: Radio-ulnar synostosis - retinal pigment abnormalities + 'Radio-ulnar synostosis - retinal pigment abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3213 Label: Deafness - opticoacoustic nerve atrophy - dementia + 'Deafness - opticoacoustic nerve atrophy - dementia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139477 Label: Al-Gazali-Dattani syndrome + 'Al-Gazali-Dattani syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1981 Label: Fanconi syndrome - ichthyosis - dysmorphism + 'Fanconi syndrome - ichthyosis - dysmorphism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1984 Label: Fechtner syndrome + 'Fechtner syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3123 Label: Brittle hair syndrome, Sabinas type + 'Brittle hair syndrome, Sabinas type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_850 Label: May-Hegglin thrombocytopenia + 'May-Hegglin thrombocytopenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_83618 Label: Severe dilated cardiomyopathy due to lamin A/C mutation + 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_807 Label: Sebastian syndrome + 'Sebastian syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3106 Label: Robinow-Sorauf syndrome + 'Robinow-Sorauf syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3112 Label: Patella aplasia - coxa vara - tarsal synostosis + 'Patella aplasia - coxa vara - tarsal synostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_156723 Label: Piepkorn dysplasia + 'Piepkorn dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79289 Label: Niemann-Pick disease type D + 'Niemann-Pick disease type D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99777 Label: Achalasia-alacrimia syndrome + 'Achalasia-alacrimia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79260 Label: Glycogen storage disease type 1C + 'Glycogen storage disease type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79261 Label: Glycogen storage disease type 1D + 'Glycogen storage disease type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99715 Label: MASS syndrome + 'MASS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_995 Label: X-linked fetal akinesia syndrome + 'X-linked fetal akinesia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1674 Label: Digitorenocerebral syndrome + 'Digitorenocerebral syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1678 Label: Dincsoy-Salih-Patel syndrome + 'Dincsoy-Salih-Patel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3084 Label: Mirhosseini-Holmes-Walton syndrome + 'Mirhosseini-Holmes-Walton syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_918 Label: ABCD syndrome + 'ABCD syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3065 Label: Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly + 'Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_964 Label: Acromegaly - cutis verticis gyrata - corneal leukoma + 'Acromegaly - cutis verticis gyrata - corneal leukoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3022 Label: Rapp-Hodgkin syndrome + 'Rapp-Hodgkin syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_936 Label: Succinic acidemia + 'Succinic acidemia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3013 Label: Radiculomegaly of canine teeth- congenital cataract + 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98788 Label: Pitt-Rogers-Danks syndrome + 'Pitt-Rogers-Danks syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79446 Label: Multiple pterygium syndrome, Aslan type + 'Multiple pterygium syndrome, Aslan type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79407 Label: Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type + 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1792 Label: Humerospinal dysostosis + 'Humerospinal dysostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98770 Label: Spinocerebellar ataxia type 16 + 'Spinocerebellar ataxia type 16' SubClassOf 'obsolete_class'