########################################### ##### ##### ##### ##### # # # # # # # # # # ##### # # # # # # ## # # # # # # # # # # # # # # # # # # # # ##### # # ##### ##### ########################################### Release notes : Version: 1.5 Date : 5th September 2014 1. No. of classes modified: 284 2. No. of classes that have been added: 206 3. No. of classes that have been deleted: 6 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_1487 Label: Cooks syndrome + 'Cooks syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_183536 Label: Genetic congenital limb malformation + 'Genetic congenital limb malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' + 'Genetic congenital limb malformation' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1452 Label: Cleidocranial dysplasia + 'Cleidocranial dysplasia' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_2063 Label: Splenogonadal fusion - limb defects - micrognathia + 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_139012 Label: Rare bone development disorder - 'Rare bone development disorder' SubClassOf 'Rare genetic developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_1412 Label: Tarsal-carpal coalition syndrome + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Tarsal-carpal coalition syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_2070 Label: Eosinophilic gastroenteritis + 'Eosinophilic gastroenteritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_402029 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 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397755 Class: http://www.orpha.net/ORDO/Orphanet_363424 Label: Hypotonia-cerebral atrophy-hyperglycinemia syndrome - 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 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_AgeOfOnset' some 'Childhood' + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '46,XX ovotesticular disorder of sex development' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_109007 Label: Arthrogryposis syndrome + 'Arthrogryposis syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_95430 Label: Congenital tracheomalacia + 'Congenital tracheomalacia' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital tracheomalacia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_394081 Label: lipoyltransferase 1 + 'lipoyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401862 Class: http://www.orpha.net/ORDO/Orphanet_232248 Label: IQ motif and Sec7 domain 2 + 'IQ motif and Sec7 domain 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397933 Class: http://www.orpha.net/ORDO/Orphanet_299619 Label: chromosome 5 open reading frame 42 + 'chromosome 5 open reading frame 42' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with orofaciodigital defect' Class: http://www.orpha.net/ORDO/Orphanet_73247 Label: Eosinophilic esophagitis - 'Eosinophilic esophagitis' SubClassOf 'part_of' some 'Rare gastro-esophageal disease' + 'Eosinophilic esophagitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_402029 Class: http://www.orpha.net/ORDO/Orphanet_1545 Label: Crisponi syndrome - 'Crisponi syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita' - 'Crisponi syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Crisponi syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Crisponi syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Crisponi syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_401993 Class: http://www.orpha.net/ORDO/Orphanet_1563 Label: Dahlberg-Borer-Newcomer syndrome + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' Class: http://www.orpha.net/ORDO/Orphanet_235187 Label: spectrin, alpha, non-erythrocytic 1 - 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'spectrin, alpha, non-erythrocytic 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159313 Label: zinc finger, DHHC-type containing 9 - 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability, X-linked, Raymond type' Class: http://www.orpha.net/ORDO/Orphanet_235181 Label: potassium inwardly-rectifying channel, subfamily J, member 5 + 'potassium inwardly-rectifying channel, subfamily J, member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cardiodysrhythmic potassium-sensitive periodic paralysis' Class: http://www.orpha.net/ORDO/Orphanet_139109 Label: chymotrypsin C (caldecrin) - 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'chymotrypsin C (caldecrin)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_139106 Label: protease, serine, 2 (trypsin 2) - 'protease, serine, 2 (trypsin 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 2 (trypsin 2)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_1531 Label: Craniosynostosis + 'Craniosynostosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_404568 Class: http://www.orpha.net/ORDO/Orphanet_169900 Label: glutaredoxin 5 + 'glutaredoxin 5' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401866 Class: http://www.orpha.net/ORDO/Orphanet_2249 Label: Ulna hypoplasia - intellectual disability + 'Ulna hypoplasia - intellectual disability' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_159228 Label: SUZ12 polycomb repressive complex 2 subunit - 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' - 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2251 Label: Thumb deformity - alopecia - pigmentation anomaly + 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_123140 Label: mitogen-activated protein kinase kinase 2 + 'mitogen-activated protein kinase kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_638 Class: http://www.orpha.net/ORDO/Orphanet_123105 Label: loricrin - 'loricrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive symmetric erythrokeratodermia' + 'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia' Class: http://www.orpha.net/ORDO/Orphanet_324964 Label: Chronic recurrent multifocal osteomyelitis + 'Chronic recurrent multifocal osteomyelitis' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_3383 Label: Humerus trochlea aplasia + 'Humerus trochlea aplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_229787 Label: polynucleotide kinase 3'-phosphatase - 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly - seizures - developmental delay' + 'polynucleotide kinase 3'-phosphatase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_229791 Label: keratin 74 + 'keratin 74' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pure hair and nail ectodermal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_141000 Label: Orofaciodigital syndrome type 11 + 'Orofaciodigital syndrome type 11' SubClassOf 'has_inheritance' some 'sporadic' + 'Orofaciodigital syndrome type 11' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Orofaciodigital syndrome type 11' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_93610 Label: Distal renal tubular acidosis with anemia + 'Distal renal tubular acidosis with anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' Class: http://www.orpha.net/ORDO/Orphanet_141099 Label: Proboscis lateralis + 'Proboscis lateralis' SubClassOf 'has_prevalence' some 'Unknown' + 'Proboscis lateralis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_141091 Label: Polyrrhinia + 'Polyrrhinia' SubClassOf 'has_inheritance' some 'sporadic' + 'Polyrrhinia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_141096 Label: Supernumerary nostril + 'Supernumerary nostril' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Supernumerary nostril' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_160018 Label: sodium channel, voltage-gated, type IV, beta subunit + 'sodium channel, voltage-gated, type IV, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_93583 Label: Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency + 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_2340 Label: Keratosis follicularis spinulosa decalvans + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Keratosis follicularis spinulosa decalvans' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_157820 Label: Cold-induced sweating syndrome - 'Cold-induced sweating syndrome' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Cold-induced sweating syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_401993 Class: http://www.orpha.net/ORDO/Orphanet_157808 Label: Congenital pseudoarthrosis of the limbs + 'Congenital pseudoarthrosis of the limbs' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_2329 Label: Karsch-Neugebauer syndrome + 'Karsch-Neugebauer syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_2310 Label: Absence deformity of leg - cataract + 'Absence deformity of leg - cataract' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_29207 Label: Reactive arthritis - 'Reactive arthritis' SubClassOf 'part_of' some 'Nonidiopathic juvenile arthritis' + 'Reactive arthritis' SubClassOf 'part_of' some 'Rare rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_2307 Label: IVIC syndrome + 'IVIC syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3451 Label: West syndrome - 'West syndrome' SubClassOf 'disease' + 'West syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3444 Label: Watson syndrome - 'Watson syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Watson syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Watson syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Watson syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Watson syndrome' SubClassOf 'malformation syndrome' - 'Watson syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' - 'Watson syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Watson syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3447 Label: Weaver syndrome + 'Weaver syndrome' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_376557 Label: adenosine monophosphate deaminase 2 + 'adenosine monophosphate deaminase 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401805 Class: http://www.orpha.net/ORDO/Orphanet_1340 Label: Cardiofaciocutaneous syndrome + 'Cardiofaciocutaneous syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_1344 Label: Atrial stand still + 'Atrial stand still' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_218675 Label: sodium channel, voltage-gated, type III, beta subunit + 'sodium channel, voltage-gated, type III, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial atrial fibrillation' Class: http://www.orpha.net/ORDO/Orphanet_98808 Label: Autosomal dominant dopa-responsive dystonia + 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_50944 Label: Sch�pf-Schulz-Passarge syndrome + 'Sch�pf-Schulz-Passarge syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_228184 Label: Heart-hand syndrome + 'Heart-hand syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 + 'Heart-hand syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_2394 Label: Pyruvate dehydrogenase E3 deficiency + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_401854 Class: http://www.orpha.net/ORDO/Orphanet_1328 Label: Camurati-Engelmann disease - 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_1325 Label: Camptodactyly - taurinuria + 'Camptodactyly - taurinuria' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_321364 Label: transmembrane protein 231 - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' - 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'transmembrane protein 231' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with oculorenal defect' Class: http://www.orpha.net/ORDO/Orphanet_93688 Label: Nonidiopathic juvenile arthritis - 'Nonidiopathic juvenile arthritis' SubClassOf 'Rare rheumatologic disease' - 'Nonidiopathic juvenile arthritis' SubClassOf 'group of disorders' + 'Nonidiopathic juvenile arthritis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_225368 Label: keratin 6C - 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma' + 'keratin 6C' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_402003 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 'Sodium channelopathy-related small fiber neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_2492 Label: Limb transversal defect - cardiac anomaly + 'Limb transversal defect - cardiac anomaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_84 Label: Fanconi anemia + 'Fanconi anemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_293928 Label: sodium channel, voltage gated, type VIII, alpha subunit - 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'gene' - 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_90044 Label: Familial pseudohyperkalemia - 'Familial pseudohyperkalemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Familial pseudohyperkalemia' SubClassOf 'part_of' some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119549 Label: Abelson helper integration site 1 + 'Abelson helper integration site 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_268061 Label: kinesin family member 7 - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' - 'kinesin family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' Class: http://www.orpha.net/ORDO/Orphanet_118140 Label: parathyroid hormone 1 receptor - 'parathyroid hormone 1 receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dental ankylosis' + 'parathyroid hormone 1 receptor' SubClassOf 'Candidate gene tested in' some 'Dental ankylosis' Class: http://www.orpha.net/ORDO/Orphanet_47045 Label: Familial cold urticaria - 'Familial cold urticaria' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Familial cold urticaria' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Familial cold urticaria' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_1027 Label: Autosomal recessive amelia + 'Autosomal recessive amelia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_268073 Label: uroplakin 3A - 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' + 'uroplakin 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_163953 Label: Intellectual disability, X-linked, Raymond type - 'Intellectual disability, X-linked, Raymond type' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' - 'Intellectual disability, X-linked, Raymond type' SubClassOf 'has_inheritance' some 'x linked recessive' - 'Intellectual disability, X-linked, Raymond type' SubClassOf 'disease' - 'Intellectual disability, X-linked, Raymond type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Intellectual disability, X-linked, Raymond type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_160296 Label: KN motif and ankyrin repeat domains 1 - 'KN motif and ankyrin repeat domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital palsy of trochlear nerve' Class: http://www.orpha.net/ORDO/Orphanet_189344 Label: potassium inwardly-rectifying channel, subfamily J, member 10 - 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_121922 Label: Fraser syndrome 1 + 'Fraser syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_121927 Label: FRAS1 related extracellular matrix protein 2 + 'FRAS1 related extracellular matrix protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_123653 Label: myosin VIIA + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Usher syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_217622 Label: Sensorineural deafness with dilated cardiomyopathy - 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_2564 Label: Tetramelic monodactyly + 'Tetramelic monodactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_120846 Label: crystallin, beta B3 + 'crystallin, beta B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Anterior polar cataract' Class: http://www.orpha.net/ORDO/Orphanet_286546 Label: chromosome 9 open reading frame 72 + 'chromosome 9 open reading frame 72' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401901 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 germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_404473 Class: http://www.orpha.net/ORDO/Orphanet_93333 Label: Pelviscapular dysplasia + 'Pelviscapular dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_363746 Label: Balint syndrome + 'Balint syndrome' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_363741 Label: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome + 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_165976 Label: calcium/calmodulin-dependent serine protein kinase (MAGUK family) + 'calcium/calmodulin-dependent serine protein kinase (MAGUK family)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_118274 Label: ret proto-oncogene - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal dysplasia' - 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal dysplasia' + 'ret proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_329319 Label: Hereditary thrombocytosis with transverse limb defect + 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1113 Label: Aphalangy - syndactyly - microcephaly + 'Aphalangy - syndactyly - microcephaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1112 Label: Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis + 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_284282 Label: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability - 'Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' + 'Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404481 Class: http://www.orpha.net/ORDO/Orphanet_2635 Label: Metatropic dysplasia + 'Metatropic dysplasia' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_2639 Label: Fibular aplasia - complex brachydactyly + 'Fibular aplasia - complex brachydactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_118200 Label: RAB3 GTPase activating protein subunit 2 (non-catalytic) + 'RAB3 GTPase activating protein subunit 2 (non-catalytic)' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401830 Class: http://www.orpha.net/ORDO/Orphanet_1071 Label: Ankyloblepharon - ectodermal defects - cleft lip/palate + 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_118222 Label: receptor-associated protein of the synapse - 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_140074 Label: ring finger protein 135 - 'ring finger protein 135' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123508 Label: mitochondrially encoded ATP synthase 6 + 'mitochondrially encoded ATP synthase 6' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397750 Class: http://www.orpha.net/ORDO/Orphanet_140047 Label: bone morphogenetic protein 4 + 'bone morphogenetic protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_93454 Label: Dysostosis with predominant vertebral and costal involvement + 'Dysostosis with predominant vertebral and costal involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_404568 Class: http://www.orpha.net/ORDO/Orphanet_93455 Label: Patellar dysostosis + 'Patellar dysostosis' SubClassOf http://www.orpha.net/ORDO/Orphanet_404568 Class: http://www.orpha.net/ORDO/Orphanet_93457 Label: Non-syndromic limb reduction defect + 'Non-syndromic limb reduction defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_93458 Label: Non-syndromic polydactyly, syndactyly and/or hyperphalangy + 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_93459 Label: Syndrome with synostosis or other joint formation defect + 'Syndrome with synostosis or other joint formation defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 + 'Syndrome with synostosis or other joint formation defect' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_93453 Label: Dysostosis with predominant craniofacial involvement + 'Dysostosis with predominant craniofacial involvement' SubClassOf http://www.orpha.net/ORDO/Orphanet_404568 Class: http://www.orpha.net/ORDO/Orphanet_63443 Label: Gastric cancer - 'Gastric cancer' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Gastric cancer' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_66630 Label: Congenital pseudoarthrosis of clavicle + 'Congenital pseudoarthrosis of clavicle' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404568 Class: http://www.orpha.net/ORDO/Orphanet_329062 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 2 - 'calcium channel, voltage-dependent, alpha 2/delta subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'calcium channel, voltage-dependent, alpha 2/delta subunit 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_120693 Label: collagen, type XI, alpha 2 - 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otospondylomegaepiphyseal dysplasia' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Otospondylomegaepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_361085 Label: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa - 'TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_85435 Label: Juvenile rheumatoid factor-positive polyarthritis - 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' + 'Juvenile rheumatoid factor-positive polyarthritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404580 Class: http://www.orpha.net/ORDO/Orphanet_85451 Label: Transthyretin-related familial amyloid cardiomyopathy - 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Transthyretin-related familial amyloid cardiomyopathy' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_300208 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 1 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_85408 Label: Juvenile rheumatoid factor-negative polyarthritis - 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'part_of' some 'Juvenile idiopathic arthritis' + 'Juvenile rheumatoid factor-negative polyarthritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404580 Class: http://www.orpha.net/ORDO/Orphanet_93172 Label: Unilateral renal dysplasia + 'Unilateral renal dysplasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Unilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_93173 Label: Bilateral renal dysplasia + 'Bilateral renal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' + 'Bilateral renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_2730 Label: Postaxial tetramelic oligodactyly + 'Postaxial tetramelic oligodactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_93108 Label: Renal dysplasia + 'Renal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' + 'Renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_93100 Label: Unilateral renal agenesis + 'Unilateral renal agenesis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Unilateral renal agenesis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Unilateral renal agenesis' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_268325 Label: tet methylcytosine dioxygenase 2 - 'tet methylcytosine dioxygenase 2' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' + 'tet methylcytosine dioxygenase 2' SubClassOf 'Modifying somatic mutation in' some 'Essential thrombocythemia' Class: http://www.orpha.net/ORDO/Orphanet_119382 Label: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Candidate gene tested in' some 'Hereditary chronic pancreatitis' + 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_363958 Label: 17q21.31 microdeletion syndrome + '17q21.31 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + '17q21.31 microdeletion syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_69028 Label: Syndrome with brachydactyly + 'Syndrome with brachydactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 + 'Syndrome with brachydactyly' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_118080 Label: protease, serine, 1 (trypsin 1) - 'protease, serine, 1 (trypsin 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' + 'protease, serine, 1 (trypsin 1)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_209285 Label: dicer 1, ribonuclease type III + 'dicer 1, ribonuclease type III' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_404476 Class: http://www.orpha.net/ORDO/Orphanet_363972 Label: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_69085 Label: Limb-mammary syndrome + 'Limb-mammary syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_118010 Label: protein kinase, cAMP-dependent, regulatory, type I, alpha + 'protein kinase, cAMP-dependent, regulatory, type I, alpha' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_2878 Label: Phocomelia - ectrodactyly - deafness - sinus arrhythmia + 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_2879 Label: Phocomelia, Schinzel type + 'Phocomelia, Schinzel type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_93293 Label: Okihiro syndrome + 'Okihiro syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_119297 Label: cyclin-dependent kinase-like 5 + 'cyclin-dependent kinase-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_199 Label: Cornelia de Lange syndrome + 'Cornelia de Lange syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 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 'Otospondylomegaepiphyseal dysplasia' + 'collagen, type II, alpha 1' SubClassOf 'Candidate gene tested in' some 'Otospondylomegaepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_123324 Label: MAGE-like 2 + 'MAGE-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_398069 Class: http://www.orpha.net/ORDO/Orphanet_184 Label: Cherubism + 'Cherubism' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_2839 Label: Pelvis-shoulder dysplasia + 'Pelvis-shoulder dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_2854 Label: Fuhrmann syndrome + 'Fuhrmann syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_297206 Label: potassium inwardly-rectifying channel, subfamily J, member 8 + 'potassium inwardly-rectifying channel, subfamily J, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypertrichotic osteochondrodysplasia, Cantu type' Class: http://www.orpha.net/ORDO/Orphanet_208347 Label: inositol polyphosphate-5-phosphatase, 72 kDa + 'inositol polyphosphate-5-phosphatase, 72 kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with hepatic defect' 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 'Unilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_255 Label: Dopa-responsive dystonia + 'Dopa-responsive dystonia' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_360995 Label: dihydropyrimidinase-like 3 - 'dihydropyrimidinase-like 3' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' - 'dihydropyrimidinase-like 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_229 Label: Familial aortic dissection - 'Familial aortic dissection' SubClassOf 'part_of' some 'Rare genetic vascular disease' + 'Familial aortic dissection' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' 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 http://www.orpha.net/ORDO/Orphanet_1171 Class: http://www.orpha.net/ORDO/Orphanet_121522 Label: ELOVL fatty acid elongase 4 + 'ELOVL fatty acid elongase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 34' Class: http://www.orpha.net/ORDO/Orphanet_123772 Label: neurofibromin 1 - 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' - 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Watson syndrome' + 'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' + 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_638 Class: http://www.orpha.net/ORDO/Orphanet_119908 Label: T, brachyury homolog (mouse) + 'T, brachyury homolog (mouse)' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397927 Class: http://www.orpha.net/ORDO/Orphanet_279644 Label: transglutaminase 6 + 'transglutaminase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_279661 Label: cation channel, sperm associated 1 - 'cation channel, sperm associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'cation channel, sperm associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_94090 Label: Pseudohypoparathyroidism type 2 + 'Pseudohypoparathyroidism type 2' SubClassOf 'has_prevalence' some 'Unknown' + 'Pseudohypoparathyroidism type 2' SubClassOf 'has_inheritance' some 'sporadic' + 'Pseudohypoparathyroidism type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_400742 Label: NECAP endocytosis associated 1 - 'NECAP endocytosis associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' - 'NECAP endocytosis associated 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_119990 Label: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 + 'T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_94089 Label: Pseudohypoparathyroidism type 1B + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some 'sporadic' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_71517 Label: Rapid-onset dystonia-parkinsonism + 'Rapid-onset dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_79133 Label: Focal facial dermal dysplasia type I - 'Focal facial dermal dysplasia type I' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Focal facial dermal dysplasia type I' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398166 Class: http://www.orpha.net/ORDO/Orphanet_353308 Label: Pyruvate carboxylase deficiency, infantile type + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_94148 Label: Autosomal dominant cerebellar ataxia type 3 + 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_353320 Label: Pyruvate carboxylase deficiency, benign type + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_137605 Label: Legius syndrome - 'Legius syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Legius syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Legius syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_120514 Label: Wolfram syndrome 1 (wolframin) + 'Wolfram syndrome 1 (wolframin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy plus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_376898 Label: methionyl-tRNA synthetase + 'methionyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401835 Class: http://www.orpha.net/ORDO/Orphanet_353372 Label: DEP domain containing 5 + 'DEP domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_391504 Label: Transient neonatal myasthenia gravis + 'Transient neonatal myasthenia gravis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398091 Class: http://www.orpha.net/ORDO/Orphanet_119846 Label: spectrin, alpha, erythrocytic 1 (elliptocytosis 2) + 'spectrin, alpha, erythrocytic 1 (elliptocytosis 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119849 Label: spectrin, beta, erythrocytic + 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119834 Label: serine peptidase inhibitor, Kazal type 1 - 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' + 'serine peptidase inhibitor, Kazal type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_139855 Label: fibulin 1 + 'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_404451 Class: http://www.orpha.net/ORDO/Orphanet_29822 Label: Spontaneous periodic hypothermia - 'Spontaneous periodic hypothermia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Spontaneous periodic hypothermia' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_171829 Label: 6q16 deletion syndrome + '6q16 deletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398073 Class: http://www.orpha.net/ORDO/Orphanet_86797 Label: Atypical lichen myxedematosus - 'Atypical lichen myxedematosus' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Atypical lichen myxedematosus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_402007 Class: http://www.orpha.net/ORDO/Orphanet_86795 Label: Localized lichen myxedematosus - 'Localized lichen myxedematosus' SubClassOf 'Other acquired skin disease' + 'Localized lichen myxedematosus' SubClassOf http://www.orpha.net/ORDO/Orphanet_402007 Class: http://www.orpha.net/ORDO/Orphanet_258534 Label: phospholipase C, beta 1 (phosphoinositide-specific) - 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'phospholipase C, beta 1 (phosphoinositide-specific)' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122719 Label: jagged 1 - 'jagged 1' SubClassOf 'Role in the phenotype of' some 'Alagille syndrome due to 20p12 microdeletion' + 'jagged 1' SubClassOf 'Role in the phenotype of' some 'Alagille syndrome due to 20p12 microdeletion' Class: http://www.orpha.net/ORDO/Orphanet_411 Label: Hyperlipoproteinemia type 1 - 'Hyperlipoproteinemia type 1' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hyperlipoproteinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' 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 'Testicular regression syndrome' Class: http://www.orpha.net/ORDO/Orphanet_317445 Label: protein tyrosine phosphatase, non-receptor type 22 (lymphoid) + 'protein tyrosine phosphatase, non-receptor type 22 (lymphoid)' SubClassOf 'Major susceptibility factor in' some 'Vogt-Koyanagi-Harada disease' Class: http://www.orpha.net/ORDO/Orphanet_122711 Label: integral membrane protein 2B + 'integral membrane protein 2B' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397758 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 dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_286631 Label: transmembrane protein 237 - 'transmembrane protein 237' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' Class: http://www.orpha.net/ORDO/Orphanet_36899 Label: Myoclonus-dystonia syndrome + 'Myoclonus-dystonia syndrome' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_26791 Label: Multiple acyl-CoA dehydrogenase deficiency - 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_123986 Label: oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) - 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oxoglutaricaciduria' + 'oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Oxoglutaricaciduria' Class: http://www.orpha.net/ORDO/Orphanet_327283 Label: glutamate receptor, metabotropic 1 + 'glutamate receptor, metabotropic 1' SubClassOf 'Part of a fusion gene in' some http://www.orpha.net/ORDO/Orphanet_404507 Class: http://www.orpha.net/ORDO/Orphanet_122466 Label: homeobox D13 + 'homeobox D13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Zygodactyly type 3' Class: http://www.orpha.net/ORDO/Orphanet_138831 Label: actin, alpha 2, smooth muscle, aorta + 'actin, alpha 2, smooth muscle, aorta' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_404463 Class: http://www.orpha.net/ORDO/Orphanet_294949 Label: Joint formation defects + 'Joint formation defects' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_294957 Label: Dysostosis with combined reduction defects of upper and lower limbs + 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 + 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_294959 Label: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy + 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf http://www.orpha.net/ORDO/Orphanet_404577 + 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_120249 Label: triggering receptor expressed on myeloid cells 2 + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Behavioral variant of frontotemporal dementia' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia' Class: http://www.orpha.net/ORDO/Orphanet_520 Label: Acute promyelocytic leukemia - 'Acute promyelocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Acute promyelocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_575 Label: Muckle-Wells syndrome - 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Muckle-Wells syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' 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 http://www.orpha.net/ORDO/Orphanet_397922 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 'Isolated Pierre Robin syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289573 Label: Fatal multiple mitochondrial dysfunction syndrome + 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_401854 Class: http://www.orpha.net/ORDO/Orphanet_121830 Label: factor interacting with PAPOLA and CPSF1 + 'factor interacting with PAPOLA and CPSF1' SubClassOf 'Part of a fusion gene in' some 'Acute promyelocytic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_121823 Label: fumarate hydratase - 'fumarate hydratase' SubClassOf 'Major susceptibility factor in' some 'Familial leiomyomatosis' + 'fumarate hydratase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial leiomyomatosis' Class: http://www.orpha.net/ORDO/Orphanet_308114 Label: FANCD2/FANCI-associated nuclease 1 - 'FANCD2/FANCI-associated nuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late-onset autosomal recessive medullary cystic kidney disease' + 'FANCD2/FANCI-associated nuclease 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401996 Class: http://www.orpha.net/ORDO/Orphanet_357237 Label: Severe combined immunodeficiency due to CARD11 deficiency - 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some 'Severe combined immunodeficiency' + 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_397802 Class: http://www.orpha.net/ORDO/Orphanet_68378 Label: Congenital limb malformation - 'Congenital limb malformation' SubClassOf 'Rare genetic developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_649 Label: Norrie disease + 'Norrie disease' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_636 Label: Neurofibromatosis type 1 - 'Neurofibromatosis type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Neurofibromatosis type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_279756 Label: mannosidase, alpha, class 1B, member 1 + 'mannosidase, alpha, class 1B, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397941 Class: http://www.orpha.net/ORDO/Orphanet_53351 Label: X-linked dystonia-parkinsonism + 'X-linked dystonia-parkinsonism' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_137917 Label: Choanal atresia, unilateral + 'Choanal atresia, unilateral' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Choanal atresia, unilateral' SubClassOf 'has_inheritance' some 'sporadic' + 'Choanal atresia, unilateral' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_137920 Label: Choanal atresia, bilateral + 'Choanal atresia, bilateral' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Choanal atresia, bilateral' SubClassOf 'has_inheritance' some 'sporadic' + 'Choanal atresia, bilateral' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_3301 Label: Tetraamelia - multiple malformations + 'Tetraamelia - multiple malformations' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_137914 Label: Choanal atresia + 'Choanal atresia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Choanal atresia' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_3318 Label: Essential thrombocythemia - 'Essential thrombocythemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Essential thrombocythemia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_3329 Label: Tibial aplasia - ectrodactyly + 'Tibial aplasia - ectrodactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3328 Label: Absent tibia - polydactyly - arachnoid cyst + 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3320 Label: Thrombocytopenia - absent radius + 'Thrombocytopenia - absent radius' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_71271 Label: Split hand - split foot - deafness + 'Split hand - split foot - deafness' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_158398 Label: single-minded family bHLH transcription factor 1 + 'single-minded family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_398079 Class: http://www.orpha.net/ORDO/Orphanet_118954 Label: axin 2 + 'axin 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_401911 Class: http://www.orpha.net/ORDO/Orphanet_118966 Label: xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 + 'xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Reunion island's Larsen syndrome' Class: http://www.orpha.net/ORDO/Orphanet_309020 Label: Familial apolipoprotein C-II deficiency + 'Familial apolipoprotein C-II deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_781 Label: Q fever - 'Q fever' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_99947 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_1897 Label: EEM syndrome + 'EEM syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1896 Label: EEC syndrome + 'EEC syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_99966 Label: Atypical teratoid rhabdoid tumor + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Atypical teratoid rhabdoid tumor' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_121152 Label: docking protein 7 - 'docking protein 7' SubClassOf 'Major susceptibility factor in' some 'Fetal akinesia deformation sequence' + 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_364198 Label: Bipartite talus + 'Bipartite talus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_394580 Label: SH2B adaptor protein 3 + 'SH2B adaptor protein 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Essential thrombocythemia' Class: http://www.orpha.net/ORDO/Orphanet_139557 Label: X-linked distal spinal muscular atrophy - 'X-linked distal spinal muscular atrophy' SubClassOf 'part_of' some 'Distal spinal muscular atrophy' + 'X-linked distal spinal muscular atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404538 Class: http://www.orpha.net/ORDO/Orphanet_3294 Label: Extensor tendons of finger anomalies + 'Extensor tendons of finger anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_1972 Label: Lethal faciocardiomelic dysplasia + 'Lethal faciocardiomelic dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1940 Label: Shoulder and thorax deformity - congenital heart disease + 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1934 Label: Early infantile epileptic encephalopathy - 'Early infantile epileptic encephalopathy' SubClassOf 'disease' - 'Early infantile epileptic encephalopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Early infantile epileptic encephalopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Early infantile epileptic encephalopathy' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1927 Label: Emery-Nelson syndrome + 'Emery-Nelson syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_1928 Label: Congenital lobar emphysema - 'Congenital lobar emphysema' SubClassOf 'has_inheritance' some 'sporadic' - 'Congenital lobar emphysema' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital lobar emphysema' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_403061 Label: epithelial membrane protein 2 + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis' + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation' + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change' Class: http://www.orpha.net/ORDO/Orphanet_292175 Label: BicC family RNA binding protein 1 - 'BicC family RNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Unilateral multicystic dysplastic kidney' - 'BicC family RNA binding protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_328699 Label: solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 + 'solute carrier family 24 (sodium/potassium/calcium exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomaturation amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_871 Label: Familial progressive cardiac conduction defect - 'Familial progressive cardiac conduction defect' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Familial progressive cardiac conduction defect' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_888 Label: Van der Woude syndrome + 'Van der Woude syndrome' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_158588 Label: HNF1 homeobox B - 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral multicystic dysplastic kidney' + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral multicystic dysplastic kidney' Class: http://www.orpha.net/ORDO/Orphanet_121250 Label: emopamil binding protein (sterol isomerase) + 'emopamil binding protein (sterol isomerase)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Digital anomalies - intellectual disability - short stature' Class: http://www.orpha.net/ORDO/Orphanet_1986 Label: Gollop-Wolfgang complex + 'Gollop-Wolfgang complex' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_1988 Label: Femoral-facial syndrome + 'Femoral-facial syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3138 Label: Ulnar-mammary syndrome + 'Ulnar-mammary syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3169 Label: Sirenomelia + 'Sirenomelia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_811 Label: Shwachman-Diamond syndrome - 'Shwachman-Diamond syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Shwachman-Diamond syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_3103 Label: Roberts syndrome + 'Roberts syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_260361 Label: tectonic family member 2 - 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' + 'tectonic family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_117665 Label: ATP-binding cassette, sub-family C (CFTR/MRP), member 8 + 'ATP-binding cassette, sub-family C (CFTR/MRP), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'DEND syndrome' Class: http://www.orpha.net/ORDO/Orphanet_199315 Label: Familial clubfoot with or without associated lower limb anomalies + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404571 + 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404577 Class: http://www.orpha.net/ORDO/Orphanet_247353 Label: Generalized pustular psoriasis - 'Generalized pustular psoriasis' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'Generalized pustular psoriasis' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2026 Label: Gingival fibromatosis-hypertrichosis syndrome - 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_978 Label: ADULT syndrome + 'ADULT syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_989 Label: Hypoglossia - hypodactyly + 'Hypoglossia - hypodactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_988 Label: Absent tibia - polydactyly + 'Absent tibia - polydactyly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_159723 Label: hydatidiform mole associated and imprinted (non-protein coding) - 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Major susceptibility factor in' some 'Transient neonatal diabetes mellitus' + 'hydatidiform mole associated and imprinted (non-protein coding)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_159756 Label: mucosa associated lymphoid tissue lymphoma translocation gene 1 + 'mucosa associated lymphoid tissue lymphoma translocation gene 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397964 Class: http://www.orpha.net/ORDO/Orphanet_930 Label: Idiopathic achalasia - 'Idiopathic achalasia' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Idiopathic achalasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Idiopathic achalasia' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_168312 Label: nuclear receptor subfamily 5, group A, member 1 + 'nuclear receptor subfamily 5, group A, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_159765 Label: mercaptopyruvate sulfurtransferase - 'mercaptopyruvate sulfurtransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' + 'mercaptopyruvate sulfurtransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' Class: http://www.orpha.net/ORDO/Orphanet_906 Label: Wiskott-Aldrich syndrome + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Wiskott-Aldrich syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_974 Label: Adams-Oliver syndrome + 'Adams-Oliver syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 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 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_404553 + 'cat eye syndrome chromosome region, candidate 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sneddon syndrome' Class: http://www.orpha.net/ORDO/Orphanet_3021 Label: RAPADILINO syndrome + 'RAPADILINO syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_159773 Label: mitochondrially encoded ATP synthase 8 + 'mitochondrially encoded ATP synthase 8' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397750 Class: http://www.orpha.net/ORDO/Orphanet_3016 Label: Radius absent - anogenital anomalies + 'Radius absent - anogenital anomalies' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_3015 Label: Radio-renal syndrome + 'Radio-renal syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Class: http://www.orpha.net/ORDO/Orphanet_124088 Label: paired box 2 + 'paired box 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_3008 Label: Pyruvate carboxylase deficiency + 'Pyruvate carboxylase deficiency' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_364571 Label: Dysostosis with limb and face anomalies as a major feature + 'Dysostosis with limb and face anomalies as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_404571 Class: http://www.orpha.net/ORDO/Orphanet_364559 Label: Dysostosis - 'Dysostosis' SubClassOf 'Rare genetic bone disease' Class: http://www.orpha.net/ORDO/Orphanet_364526 Label: Primary bone dysplasia + 'Primary bone dysplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_404584 Class: http://www.orpha.net/ORDO/Orphanet_118918 Label: ataxin 10 - 'ataxin 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with renal defect' Class: http://www.orpha.net/ORDO/Orphanet_79445 Label: Pseudopseudohypoparathyroidism + 'Pseudopseudohypoparathyroidism' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pseudopseudohypoparathyroidism' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_79444 Label: Pseudohypoparathyroidism type 1C + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_79443 Label: Pseudohypoparathyroidism type 1A + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_prevalence' some 'Unknown' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_159813 Label: pleiomorphic adenoma gene-like 1 - 'pleiomorphic adenoma gene-like 1' SubClassOf 'Major susceptibility factor in' some 'Transient neonatal diabetes mellitus' + 'pleiomorphic adenoma gene-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Transient neonatal diabetes mellitus' Class: http://www.orpha.net/ORDO/Orphanet_99817 Label: Non-polyposis Turcot syndrome + 'Non-polyposis Turcot syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Non-polyposis Turcot syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Non-polyposis Turcot syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_99818 Label: Turcot syndrome with polyposis + 'Turcot syndrome with polyposis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Turcot syndrome with polyposis' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_167635 Label: Scleromyxedema - 'Scleromyxedema' SubClassOf 'part_of' some 'Genetic subcutaneous tissue disease' - 'Scleromyxedema' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Scleromyxedema' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_402007 Class: http://www.orpha.net/ORDO/Orphanet_117820 Label: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Macrodactyly of toes, unilateral' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hemihyperplasia-multiple lipomatosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_238744 Label: Mammary-digital-nail syndrome + 'Mammary-digital-nail syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_404574 Classes added: Class: http://www.orpha.net/ORDO/Orphanet_404584 Label: Rare genetic bone development disorder + 'Rare genetic bone development disorder' SubClassOf 'group of disorders' + 'Rare genetic bone development disorder' SubClassOf 'Rare genetic developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_404580 Label: Juvenile polyarthritis + 'Juvenile polyarthritis' SubClassOf 'group of disorders' + 'Juvenile polyarthritis' SubClassOf 'Juvenile idiopathic arthritis' Class: http://www.orpha.net/ORDO/Orphanet_404574 Label: Genetic syndrome with limb reduction defects + 'Genetic syndrome with limb reduction defects' SubClassOf 'Genetic syndrome with limb malformations as a major feature' + 'Genetic syndrome with limb reduction defects' SubClassOf 'group of disorders' + 'Genetic syndrome with limb reduction defects' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_404577 Label: Genetic syndrome with limb malformations as a major feature + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'group of disorders' + 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Congenital limb malformation' Class: http://www.orpha.net/ORDO/Orphanet_404571 Label: Dysostosis of genetic origin with limb anomaly as a major feature + 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Dysostosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_404568 Label: Dysostosis of genetic origin + 'Dysostosis of genetic origin' SubClassOf 'group of disorders' + 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone development disorder' + 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone disease' Class: http://www.orpha.net/ORDO/Orphanet_404560 Label: Familial atypical multiple mole melanoma syndrome + 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'disease' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Genetic skin tumor' + 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_1499 Label: Cortada-Koussef-Matsumoto syndrome + 'Cortada-Koussef-Matsumoto syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label: Vasculitis due to ADA2 deficiency + 'Vasculitis due to ADA2 deficiency' SubClassOf 'disease' + 'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some 'Predominantly medium-vessel vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_404546 Label: DITRA + 'DITRA' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'DITRA' SubClassOf 'disease' + 'DITRA' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_404538 Label: X-linked distal hereditary motor neuropathy + 'X-linked distal hereditary motor neuropathy' SubClassOf 'Distal spinal muscular atrophy' + 'X-linked distal hereditary motor neuropathy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_397787 Label: Severe combined immunodeficiency due to IKK2 deficiency + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2031 Label: Hepatic fibrosis - renal cysts - intellectual disability + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'malformation syndrome' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Familial cystic renal disease' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_405637 Label: unc-45 homolog B (C. elegans) + 'unc-45 homolog B (C. elegans)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nuclear cataract' + 'unc-45 homolog B (C. elegans)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406000 Label: SRY (sex determining region Y)-box 11 + 'SRY (sex determining region Y)-box 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Coffin-Siris syndrome' + 'SRY (sex determining region Y)-box 11' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_397755 Label: Periodic paralysis with transient compartment-like syndrome + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic muscular channelopathy' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Genetic periodic paralysis' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'disease' + 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'part_of' some 'Muscular channelopathy' Class: http://www.orpha.net/ORDO/Orphanet_397750 Label: Periodic paralysis with later-onset distal motor neuropathy + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Periodic paralysis' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Genetic periodic paralysis' + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_406016 Label: DNA (cytosine-5-)-methyltransferase 3 alpha + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'gene' + 'DNA (cytosine-5-)-methyltransferase 3 alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tall stature-intellectual disability-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_320192 Label: cytochrome P450, family 26, subfamily C, polypeptide 1 + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'gene' + 'cytochrome P450, family 26, subfamily C, polypeptide 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type IV' Class: http://www.orpha.net/ORDO/Orphanet_406010 Label: activity-dependent neuroprotector homeobox + 'activity-dependent neuroprotector homeobox' SubClassOf 'gene' + 'activity-dependent neuroprotector homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_397758 Label: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'disease' + 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some 'Retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_404514 Label: Acquired kidney disease-associated renal cell carcinoma + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'part_of' some 'Non-familial renal cell carcinoma' + 'Acquired kidney disease-associated renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_404511 Label: Clear cell papillary renal cell carcinoma + 'Clear cell papillary renal cell carcinoma' SubClassOf 'Clear cell renal carcinoma' + 'Clear cell papillary renal cell carcinoma' SubClassOf 'histopathological subtype' Class: http://www.orpha.net/ORDO/Orphanet_404521 Label: Spinal muscular atrophy with respiratory distress type 2 + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'disease' + 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_408636 Label: solute carrier family 26 (anion exchanger), member 8 + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'solute carrier family 26 (anion exchanger), member 8' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_408642 Label: septin 12 + 'septin 12' SubClassOf 'gene' + 'septin 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_404507 Label: Chondromyxoid fibroma + 'Chondromyxoid fibroma' SubClassOf 'disease' + 'Chondromyxoid fibroma' SubClassOf 'part_of' some 'Rare bone tumor' Class: http://www.orpha.net/ORDO/Orphanet_408654 Label: dynein, axonemal, heavy chain 1 + 'dynein, axonemal, heavy chain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' + 'dynein, axonemal, heavy chain 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_398416 Label: glycophorin C (Gerbich blood group) + 'glycophorin C (Gerbich blood group)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' + 'glycophorin C (Gerbich blood group)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_397802 Label: T+ B+ severe combined immunodeficiency + 'T+ B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' + 'T+ B+ severe combined immunodeficiency' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_304764 Label: spermatogenesis and oogenesis specific basic helix-loop-helix 1 + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'gene' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Major susceptibility factor in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_1250 Label: Blaichman syndrome + 'Blaichman syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93611 + http://www.orpha.net/ORDO/Orphanet_93611 SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93609 + http://www.orpha.net/ORDO/Orphanet_93609 SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label: nanos homolog 1 (Drosophila) + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with teratozoospermia due to single gene mutation' + 'nanos homolog 1 (Drosophila)' SubClassOf 'gene' + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_239021 Label: twist family bHLH transcription factor 2 + 'twist family bHLH transcription factor 2' SubClassOf 'gene' + 'twist family bHLH transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Focal facial dermal dysplasia type III' Class: http://www.orpha.net/ORDO/Orphanet_404440 Label: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_404448 Label: ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404443 Label: Tall stature-intellectual disability-facial dysmorphism syndrome + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_404437 Label: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'malformation syndrome' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' Class: http://www.orpha.net/ORDO/Orphanet_404466 Label: Female infertility due to zona pellucida defect + 'Female infertility due to zona pellucida defect' SubClassOf 'disease' + 'Female infertility due to zona pellucida defect' SubClassOf 'part_of' some 'Female infertility due to fertilization defect' Class: http://www.orpha.net/ORDO/Orphanet_404463 Label: Multisystemic smooth muscle dysfunction syndrome + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Congenital intestinal motility disorder' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare urogenital disease' + 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_404469 Label: Female infertility due to fertilization defect + 'Female infertility due to fertilization defect' SubClassOf 'group of disorders' + 'Female infertility due to fertilization defect' SubClassOf 'Rare genetic female infertility' + 'Female infertility due to fertilization defect' SubClassOf 'Rare female infertility' Class: http://www.orpha.net/ORDO/Orphanet_404451 Label: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404454 Label: Alacrimia-choreoathetosis-liver dysfunction syndrome + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'part_of' some 'Other metabolic disease' + 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404481 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Monogenic disease with epilepsy' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'group of disorders' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Rare intellectual disability with developmental anomaly' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' Class: http://www.orpha.net/ORDO/Orphanet_404473 Label: Severe intellectual disability-progressive spastic diplegia syndrome + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'malformation syndrome' + 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_404476 Label: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Rare renal tumor' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'part_of' some 'Genetic renal tumor' + 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404499 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404493 Label: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'part_of' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' + 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401764 Label: Pancytopenia-developmental delay syndrome + 'Pancytopenia-developmental delay syndrome' SubClassOf 'disease' + 'Pancytopenia-developmental delay syndrome' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_401768 Label: Proximal myopathy with extrapyramidal signs + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease' + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Non-dystrophic myopathy' + 'Proximal myopathy with extrapyramidal signs' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease' Class: http://www.orpha.net/ORDO/Orphanet_401771 Label: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'gene' + 'inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to IKK2 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_401777 Label: Optic atrophy-intellectual disability syndrome + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic optic atrophy' + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Optic atrophy-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398147 Label: Persistent idiopathic facial pain + 'Persistent idiopathic facial pain' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Persistent idiopathic facial pain' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398156 Label: Oculoauriculofrontonasal syndrome + 'Oculoauriculofrontonasal syndrome' SubClassOf 'malformation syndrome' + 'Oculoauriculofrontonasal syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_401785 Label: Autosomal recessive spastic paraplegia type 62 + 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401780 Label: Autosomal recessive spastic paraplegia type 61 + 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398166 Label: Focal facial dermal dysplasia + 'Focal facial dermal dysplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Focal facial dermal dysplasia' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Focal facial dermal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Focal facial dermal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401795 Label: Autosomal recessive spastic paraplegia type 59 + 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_398173 Label: Focal facial dermal dysplasia type II + 'Focal facial dermal dysplasia type II' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Focal facial dermal dysplasia type II' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type II' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Focal facial dermal dysplasia type II' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Focal facial dermal dysplasia type II' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_1019 Label: Epstein syndrome + 'Epstein syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_398109 Label: Neonatal autoimmune hemolytic anemia + 'Neonatal autoimmune hemolytic anemia' SubClassOf 'disease' + 'Neonatal autoimmune hemolytic anemia' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_398117 Label: Neonatal dermatomyositis + 'Neonatal dermatomyositis' SubClassOf 'disease' + 'Neonatal dermatomyositis' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_398124 Label: Neonatal lupus erythematosus + 'Neonatal lupus erythematosus' SubClassOf 'disease' + 'Neonatal lupus erythematosus' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_398127 Label: Neonatal scleroderma + 'Neonatal scleroderma' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' + 'Neonatal scleroderma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398073 Label: Prader-Willi-like syndrome + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Syndromic obesity' + 'Prader-Willi-like syndrome' SubClassOf 'disease' + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare neurologic disease with psychiatric involvement' + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' + 'Prader-Willi-like syndrome' SubClassOf 'part_of' some 'Rare disorder with hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_398079 Label: Prader-Willi-like syndrome due to point mutation + 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi-like syndrome' + 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_398063 Label: Refractory celiac disease + 'Refractory celiac disease' SubClassOf 'disease' + 'Refractory celiac disease' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_398069 Label: Prader-Willi syndrome due to point mutation + 'Prader-Willi syndrome due to point mutation' SubClassOf 'part_of' some 'Prader-Willi syndrome' + 'Prader-Willi syndrome due to point mutation' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_398091 Label: Secondary neonatal autoimmune disease + 'Secondary neonatal autoimmune disease' SubClassOf 'group of disorders' + 'Secondary neonatal autoimmune disease' SubClassOf 'Systemic autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_398097 Label: Neonatal antiphospholipid syndrome + 'Neonatal antiphospholipid syndrome' SubClassOf 'disease' + 'Neonatal antiphospholipid syndrome' SubClassOf 'part_of' some 'Secondary neonatal autoimmune disease' Class: http://www.orpha.net/ORDO/Orphanet_398088 Label: Hereditary cryohydrocytosis with normal stomatin + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'disease' + 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'part_of' some 'Hereditary stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_401815 Label: Autosomal recessive spastic paraplegia type 66 + 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401810 Label: Autosomal recessive spastic paraplegia type 64 + 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_403958 Label: prickle homolog 2 (Drosophila) + 'prickle homolog 2 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive myoclonic epilepsy type 5' + 'prickle homolog 2 (Drosophila)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401805 Label: Autosomal recessive spastic paraplegia type 63 + 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401800 Label: Autosomal recessive spastic paraplegia type 60 + 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_398043 Label: Malignant tumor of penis + 'Malignant tumor of penis' SubClassOf 'Rare urogenital tumor' + 'Malignant tumor of penis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398053 Label: Adenocarcinoma of penis + 'Adenocarcinoma of penis' SubClassOf 'disease' + 'Adenocarcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' Class: http://www.orpha.net/ORDO/Orphanet_398058 Label: Squamous cell carcinoma of penis + 'Squamous cell carcinoma of penis' SubClassOf 'disease' + 'Squamous cell carcinoma of penis' SubClassOf 'part_of' some 'Malignant tumor of penis' 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 'part_of' some 'Autosomal dominant optic atrophy' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Autosomal dominant cerebellar ataxia type 1' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_293838 + http://www.orpha.net/ORDO/Orphanet_293838 SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_401986 Label: 1p31p32 microdeletion syndrome + '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' + '1p31p32 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 1' + '1p31p32 microdeletion syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401993 Label: Cold-induced sweating syndrome-hyperthermia spectrum + 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'group of disorders' + 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_401996 Label: Karyomegalic interstitial nephritis + 'Karyomegalic interstitial nephritis' SubClassOf 'part_of' some 'Familial cystic renal disease' + 'Karyomegalic interstitial nephritis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401964 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_401979 Label: Autosomal recessive spondylometaphyseal dysplasia, M�garban� type + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' + 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401973 Label: MEND syndrome + 'MEND syndrome' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' + 'MEND syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'MEND syndrome' SubClassOf 'malformation syndrome' + 'MEND syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401945 Label: Moyamoya disease with early-onset achalasia + 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare gastroesophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Genetic gastro-esophageal disease' + 'Moyamoya disease with early-onset achalasia' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_401948 Label: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Gluconeogenesis disorder' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of branched-chain amino acid metabolism' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Disorder of urea cycle metabolism and ammonia detoxification' + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401942 Label: Familial median cleft of the upper and lower lips + 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Genetic head and neck malformation' + 'Familial median cleft of the upper and lower lips' SubClassOf 'part_of' some 'Median facial cleft' + 'Familial median cleft of the upper and lower lips' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401959 Label: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'malformation syndrome' + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_401953 Label: Episodic ataxia with slurred speech + 'Episodic ataxia with slurred speech' SubClassOf 'part_of' some 'Hereditary episodic ataxia' + 'Episodic ataxia with slurred speech' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_406905 Label: KIAA0226 + 'KIAA0226' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' + 'KIAA0226' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406901 Label: tyrosyl-DNA phosphodiesterase 2 + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'gene' + 'tyrosyl-DNA phosphodiesterase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' Class: http://www.orpha.net/ORDO/Orphanet_404774 Label: presequence translocase-associated motor 16 homolog (S. cerevisiae) + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spondylometaphyseal dysplasia, M�garban� type' + 'presequence translocase-associated motor 16 homolog (S. cerevisiae)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404789 Label: hedgehog acyltransferase + 'hedgehog acyltransferase' SubClassOf 'gene' + 'hedgehog acyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Chondrodysplasia - disorder of sex development' Class: http://www.orpha.net/ORDO/Orphanet_406910 Label: LAS1-like (S. cerevisiae) + 'LAS1-like (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinal muscular atrophy with respiratory distress type 2' + 'LAS1-like (S. cerevisiae)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_397922 Label: Ferro-cerebro-cutaneous syndrome + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'disease' + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Rare parenchymatous liver disease' Class: http://www.orpha.net/ORDO/Orphanet_404762 Label: adenylate cyclase 1 (brain) + 'adenylate cyclase 1 (brain)' SubClassOf 'gene' + 'adenylate cyclase 1 (brain)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_404768 Label: intraflagellar transport 27 + 'intraflagellar transport 27' SubClassOf 'gene' + 'intraflagellar transport 27' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_404743 Label: phosphatidylinositol glycan anchor biosynthesis, class Q + 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_397968 Label: Charcot-Marie-Tooth disease type 2R + 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'part_of' some 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' + 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397973 Label: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Syndromic obesity' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'disease' + 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397937 Label: Polyglucosan body myopathy + 'Polyglucosan body myopathy' SubClassOf 'disease' + 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Glycogen storage disease' + 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Muscular glycogenosis' + 'Polyglucosan body myopathy' SubClassOf 'part_of' some 'Neuromuscular disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_397941 Label: MAN1B1-CDG + 'MAN1B1-CDG' SubClassOf 'disease' + 'MAN1B1-CDG' SubClassOf 'part_of' some 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' + 'MAN1B1-CDG' SubClassOf 'part_of' some 'Disorder of multiple glycosylation' Class: http://www.orpha.net/ORDO/Orphanet_397927 Label: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome + 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397933 Label: Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome + 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'disease' + 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_397959 Label: TCR-alpha-beta-positive T-cell deficiency + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397964 Label: Combined immunodeficiency due to MALT1 deficiency + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397946 Label: Autosomal recessive spastic paraplegia type 58 + 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_397951 Label: Microcephaly-thin corpus callosum-intellectual disability syndrome + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'disease' + 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401869 Label: Fatal multiple mitochondrial dysfunction syndrome type 1 + 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'clinical subtype' + 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'part_of' some 'Fatal multiple mitochondrial dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401866 Label: Spasticity-ataxia-gait anomalies syndrome + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'part_of' some 'Spastic ataxia' + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' + 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401862 Label: Lipoyl transferase 1 deficiency + 'Lipoyl transferase 1 deficiency' SubClassOf 'disease' + 'Lipoyl transferase 1 deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_401879 Label: TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa + 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-thin corpus callosum-intellectual disability syndrome' + 'TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401874 Label: Fatal multiple mitochondrial dysfunction syndrome type 2 + 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'clinical subtype' + 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'part_of' some 'Fatal multiple mitochondrial dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401825 Label: Autosomal recessive spastic paraplegia type 68 + 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401820 Label: Autosomal recessive spastic paraplegia type 67 + 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401830 Label: Autosomal recessive spastic paraplegia type 69 + 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_398212 Label: kinesin family member 1C + 'kinesin family member 1C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 58' + 'kinesin family member 1C' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401835 Label: Autosomal recessive spastic paraplegia type 70 + 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_401840 Label: Autosomal recessive spastic paraplegia type 71 + 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401849 Label: Autosomal recessive spastic paraplegia type 72 + 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'disease' + 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' + 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_401854 Label: Lipoic acid biosynthesis defect + 'Lipoic acid biosynthesis defect' SubClassOf 'Mitochondrial disease' + 'Lipoic acid biosynthesis defect' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_401859 Label: Lipoic acid synthetase deficiency + 'Lipoic acid synthetase deficiency' SubClassOf 'disease' + 'Lipoic acid synthetase deficiency' SubClassOf 'part_of' some 'Lipoic acid biosynthesis defect' Class: http://www.orpha.net/ORDO/Orphanet_404809 Label: centrosomal protein 83kDa + 'centrosomal protein 83kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile autosomal recessive medullary cystic kidney disease' + 'centrosomal protein 83kDa' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_398189 Label: Focal facial dermal dysplasia type IV + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Focal facial dermal dysplasia type IV' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Focal facial dermal dysplasia type IV' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type IV' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_401908 Label: T cell receptor alpha constant + 'T cell receptor alpha constant' SubClassOf 'Disease-causing germline mutation(s) in' some 'TCR-alpha-beta-positive T-cell deficiency' + 'T cell receptor alpha constant' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401911 Label: AXIN2-related attenuated familial adenomatous polyposis + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'part_of' some 'Attenuated familial adenomatous polyposis' + 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'etiological subtype' Class: http://www.orpha.net/ORDO/Orphanet_401901 Label: Huntington disease-like syndrome due to C9ORF72 expansions + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Neurodegenerative disease with dementia' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Genetic neurodegenerative disease with dementia' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Genetic neurodegenerative disease' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease' + 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'part_of' some 'Neurodegenerative disease with chorea' Class: http://www.orpha.net/ORDO/Orphanet_401935 Label: 14q24.1q24.3 microdeletion syndrome + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 14' + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '14q24.1q24.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401930 Label: tripartite motif containing 2 + 'tripartite motif containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 2R' + 'tripartite motif containing 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401923 Label: 9q31.1q31.3 microdeletion syndrome + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial monosomy of the long arm of chromosome 9' + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'malformation syndrome' + '9q31.1q31.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_401920 Label: Fibrolamellar hepatocellular carcinoma + 'Fibrolamellar hepatocellular carcinoma' SubClassOf 'Hepatocellular carcinoma' + 'Fibrolamellar hepatocellular carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_404800 Label: ATP-binding cassette, sub-family A (ABC1), member 5 + 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gingival fibromatosis-hypertrichosis syndrome' + 'ATP-binding cassette, sub-family A (ABC1), member 5' SubClassOf 'gene' 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_406879 Label: glutaminyl-tRNA synthetase + 'glutaminyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' + 'glutaminyl-tRNA synthetase' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406882 Label: SET domain containing 5 + 'SET domain containing 5' SubClassOf 'gene' + 'SET domain containing 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' Class: http://www.orpha.net/ORDO/Orphanet_406889 Label: zona pellucida glycoprotein 1 (sperm receptor) + 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Female infertility due to zona pellucida defect' + 'zona pellucida glycoprotein 1 (sperm receptor)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406885 Label: N-glycanase 1 + 'N-glycanase 1' SubClassOf 'gene' + 'N-glycanase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alacrimia-choreoathetosis-liver dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121563 Label: erythrocyte membrane protein band 4.1 + 'erythrocyte membrane protein band 4.1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary elliptocytosis' + 'erythrocyte membrane protein band 4.1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406759 Label: ribosomal protein S29 + 'ribosomal protein S29' SubClassOf 'gene' + 'ribosomal protein S29' SubClassOf 'Disease-causing germline mutation(s) in' some 'Blackfan-Diamond anemia' Class: http://www.orpha.net/ORDO/Orphanet_406765 Label: coiled-coil-helix-coiled-coil-helix domain containing 10 + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'gene' + 'coiled-coil-helix-coiled-coil-helix domain containing 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Frontotemporal dementia with motor neuron disease' Class: http://www.orpha.net/ORDO/Orphanet_331658 Label: RanBP-type and C3HC4-type zinc finger containing 1 + 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyglucosan body myopathy' + 'RanBP-type and C3HC4-type zinc finger containing 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_402364 Label: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly + 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature' + 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_406692 Label: unc-13 homolog A (C. elegans) + 'unc-13 homolog A (C. elegans)' SubClassOf 'gene' + 'unc-13 homolog A (C. elegans)' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_406645 Label: Meis homeobox 2 + 'Meis homeobox 2' SubClassOf 'Role in the phenotype of' some '15q14 microdeletion syndrome' + 'Meis homeobox 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406611 Label: glutathione peroxidase 4 + 'glutathione peroxidase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spondylometaphyseal dysplasia, Sedaghatian type' + 'glutathione peroxidase 4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406620 Label: chloride intracellular channel 5 + 'chloride intracellular channel 5' SubClassOf 'gene' + 'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_406595 Label: syntaxin 3 + 'syntaxin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microvillus inclusion disease' + 'syntaxin 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_289583 Label: bolA family member 3 + 'bolA family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 2' + 'bolA family member 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_289576 Label: NFU1 iron-sulfur cluster scaffold + 'NFU1 iron-sulfur cluster scaffold' SubClassOf 'gene' + 'NFU1 iron-sulfur cluster scaffold' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_405057 Label: carboxypeptidase A1 (pancreatic) + 'carboxypeptidase A1 (pancreatic)' SubClassOf 'Major susceptibility factor in' some 'Hereditary chronic pancreatitis' + 'carboxypeptidase A1 (pancreatic)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_638 Label: Neurofibromatosis-Noonan syndrome + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'malformation syndrome' + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_407527 Label: myosin IC + 'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'myosin IC' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_407507 Label: mediator complex subunit 17 + 'mediator complex subunit 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' + 'mediator complex subunit 17' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_406487 Label: dual serine/threonine and tyrosine protein kinase + 'dual serine/threonine and tyrosine protein kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Unilateral renal agenesis' + 'dual serine/threonine and tyrosine protein kinase' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1807 Label: Focal facial dermal dysplasia type III + 'Focal facial dermal dysplasia type III' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Focal facial dermal dysplasia type III' SubClassOf 'clinical subtype' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Focal facial dermal dysplasia type III' SubClassOf 'part_of' some 'Focal facial dermal dysplasia' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Focal facial dermal dysplasia type III' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_402035 Label: Eosinophilic colitis + 'Eosinophilic colitis' SubClassOf 'disease' + 'Eosinophilic colitis' SubClassOf 'part_of' some 'Primary eosinophilic gastrointestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_402041 Label: Autosomal recessive distal renal tubular acidosis + 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'disease' + 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_406394 Label: solute carrier family 2 (facilitated glucose transporter), member 3 + 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf 'Modifying germline mutation in' some 'Huntington disease' + 'solute carrier family 2 (facilitated glucose transporter), member 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_402003 Label: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering + 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'part_of' some 'Isolated focal palmoplantar keratoderma' + 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402007 Label: Lichen myxedematosus + 'Lichen myxedematosus' SubClassOf 'Unclassified dermis disorder' + 'Lichen myxedematosus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_402017 Label: Acute myeloid leukemia with t(9;11)(p22;q23) + 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with t(9;11)(p22;q23)' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402014 Label: Acute myeloid leukemia with t(6;9)(p23;q34) + 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf 'disease' + 'Acute myeloid leukemia with t(6;9)(p23;q34)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_402011 Label: Acute myeloid leukemia with t(8;16)(p11;p13) + 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' + 'Acute myeloid leukemia with t(8;16)(p11;p13)' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402020 Label: Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) + 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf 'disease' + 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_402026 Label: Acute myeloid leukemia with NPM1 somatic mutations + 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'disease' + 'Acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_402023 Label: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) + 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf 'disease' + 'Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' SubClassOf 'part_of' some 'Acute myeloid leukemia with recurrent genetic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_402029 Label: Primary eosinophilic gastrointestinal disease + 'Primary eosinophilic gastrointestinal disease' SubClassOf 'Rare gastroenterologic disease' + 'Primary eosinophilic gastrointestinal disease' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_402075 Label: Familial bicuspid aortic valve + 'Familial bicuspid aortic valve' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Familial bicuspid aortic valve' SubClassOf 'morphological anomaly' + 'Familial bicuspid aortic valve' SubClassOf 'part_of' some 'Aortic malformation' Class: http://www.orpha.net/ORDO/Orphanet_402082 Label: Progressive myoclonic epilepsy type 5 + 'Progressive myoclonic epilepsy type 5' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' + 'Progressive myoclonic epilepsy type 5' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1951 Label: Epilepsy telangiectasia + 'Epilepsy telangiectasia' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Epilepsy telangiectasia' SubClassOf 'disease' + 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Epilepsy telangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Epilepsy telangiectasia' SubClassOf 'part_of' some 'Epilepsy syndrome' + 'Epilepsy telangiectasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_406382 Label: CAP-GLY domain containing linker protein 1 + 'CAP-GLY domain containing linker protein 1' SubClassOf 'gene' + 'CAP-GLY domain containing linker protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_404138 Label: guanylate cyclase 1, soluble, alpha 3 + 'guanylate cyclase 1, soluble, alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Moyamoya disease with early-onset achalasia' + 'guanylate cyclase 1, soluble, alpha 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404135 Label: protein kinase, cAMP-dependent, catalytic, alpha + 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' + 'protein kinase, cAMP-dependent, catalytic, alpha' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404144 Label: carbonic anhydrase VA, mitochondrial + 'carbonic anhydrase VA, mitochondrial' SubClassOf 'gene' + 'carbonic anhydrase VA, mitochondrial' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' Class: http://www.orpha.net/ORDO/Orphanet_404154 Label: karyopherin alpha 7 (importin alpha 8) + 'karyopherin alpha 7 (importin alpha 8)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' + 'karyopherin alpha 7 (importin alpha 8)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_404167 Label: DDB1 and CUL4 associated factor 8 + 'DDB1 and CUL4 associated factor 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' + 'DDB1 and CUL4 associated factor 8' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1984 Label: Fechtner syndrome + 'Fechtner syndrome' 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_404128 Label: DnaJ (Hsp40) homolog, subfamily B, member 1 + 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf 'gene' + 'DnaJ (Hsp40) homolog, subfamily B, member 1' SubClassOf 'Part of a fusion gene in' some 'Fibrolamellar hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_807 Label: Sebastian syndrome + 'Sebastian syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_403310 Label: ADP-ribosylation factor-like 6 interacting protein 1 + 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf 'gene' + 'ADP-ribosylation factor-like 6 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 61' Class: http://www.orpha.net/ORDO/Orphanet_404076 Label: lipoic acid synthetase + 'lipoic acid synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lipoic acid synthetase deficiency' + 'lipoic acid synthetase' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_1625 Label: Deletion 4q + 'Deletion 4q' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1683 + http://www.orpha.net/ORDO/Orphanet_1683 SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_403364 Label: ectonucleoside triphosphate diphosphohydrolase 1 + 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 64' + 'ectonucleoside triphosphate diphosphohydrolase 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403370 Label: arylsulfatase family, member I + 'arylsulfatase family, member I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 66' + 'arylsulfatase family, member I' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403377 Label: post-GPI attachment to proteins 1 + 'post-GPI attachment to proteins 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 67' + 'post-GPI attachment to proteins 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403385 Label: fibronectin leucine rich transmembrane protein 1 + 'fibronectin leucine rich transmembrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 68' + 'fibronectin leucine rich transmembrane protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403392 Label: zinc finger RNA binding protein + 'zinc finger RNA binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 71' + 'zinc finger RNA binding protein' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403398 Label: receptor accessory protein 2 + 'receptor accessory protein 2' SubClassOf 'gene' + 'receptor accessory protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 72' Class: http://www.orpha.net/ORDO/Orphanet_403322 Label: ER lipid raft associated 1 + 'ER lipid raft associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 62' + 'ER lipid raft associated 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403334 Label: ubiquitin specific peptidase 8 + 'ubiquitin specific peptidase 8' SubClassOf 'gene' + 'ubiquitin specific peptidase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 59' Class: http://www.orpha.net/ORDO/Orphanet_403350 Label: WD repeat domain 48 + 'WD repeat domain 48' SubClassOf 'gene' + 'WD repeat domain 48' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 60' Class: http://www.orpha.net/ORDO/Orphanet_118872 Label: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf 'gene' + 'ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_118861 Label: ATPase, H+ transporting, lysosomal V0 subunit a4 + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'gene' + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_1739 Label: Duplication 4q + 'Duplication 4q' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_403288 Label: mitochondrial calcium uptake 1 + 'mitochondrial calcium uptake 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Proximal myopathy with extrapyramidal signs' + 'mitochondrial calcium uptake 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403281 Label: excision repair cross-complementation group 6-like 2 + 'excision repair cross-complementation group 6-like 2' SubClassOf 'gene' + 'excision repair cross-complementation group 6-like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancytopenia-developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_403297 Label: nuclear receptor subfamily 2, group F, member 1 + 'nuclear receptor subfamily 2, group F, member 1' SubClassOf 'gene' + 'nuclear receptor subfamily 2, group F, member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Optic atrophy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_405470 Label: methyltransferase like 23 + 'methyltransferase like 23' SubClassOf 'gene' + 'methyltransferase like 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_408692 Label: sarcolemma associated protein + 'sarcolemma associated protein' SubClassOf 'gene' + 'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome' Classes deleted: Class: http://www.orpha.net/ORDO/Orphanet_159228 Label: SUZ12 polycomb repressive complex 2 subunit + 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'Role in the phenotype of' some '17q11 microdeletion syndrome' + 'SUZ12 polycomb repressive complex 2 subunit' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_293928 Label: sodium channel, voltage gated, type VIII, alpha subunit + 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'gene' + 'sodium channel, voltage gated, type VIII, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_329062 Label: calcium channel, voltage-dependent, alpha 2/delta subunit 2 + 'calcium channel, voltage-dependent, alpha 2/delta subunit 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'calcium channel, voltage-dependent, alpha 2/delta subunit 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_360995 Label: dihydropyrimidinase-like 3 + 'dihydropyrimidinase-like 3' SubClassOf 'Major susceptibility factor in' some 'Amyotrophic lateral sclerosis' + 'dihydropyrimidinase-like 3' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400742 Label: NECAP endocytosis associated 1 + 'NECAP endocytosis associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' + 'NECAP endocytosis associated 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_292175 Label: BicC family RNA binding protein 1 + 'BicC family RNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Unilateral multicystic dysplastic kidney' + 'BicC family RNA binding protein 1' SubClassOf 'gene'