########################################### ##### ##### ##### ##### # # # # # # # # # # ##### # # # # # # ## # # # # # # # # # # # # # # # # # # # # ##### # # ##### ##### ########################################### Release notes : Version: 1.3 Date : 2nd June 2014 1. No. of classes modified: 220 2. No. of classes that have been added: 18 3. No. of classes that have been deleted: 0 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_240651 Label: G-protein signaling modulator 2 - 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'G-protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_221356 Label: lipoxygenase homology domains 1 - 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_122102 Label: gap junction protein, alpha 1, 43kDa - 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'gap junction protein, alpha 1, 43kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_122129 Label: gap junction protein, beta 2, 26kDa - 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 2, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_122135 Label: gap junction protein, beta 3, 31kDa - 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 3, 31kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_159414 Label: lipoma HMGIC fusion partner-like 5 - 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'lipoma HMGIC fusion partner-like 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_122142 Label: gap junction protein, beta 6, 30kDa - 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'gap junction protein, beta 6, 30kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2103 Label: Guillain-Barr� syndrome - 'Guillain-Barr� syndrome' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_179459 Label: bone morphogenetic protein 2 - 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' + 'bone morphogenetic protein 2' SubClassOf 'Role in the phenotype of' some '20p12.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233019 Label: serpin peptidase inhibitor, clade B (ovalbumin), member 6 - 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'serpin peptidase inhibitor, clade B (ovalbumin), member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' 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 'X-linked intellectual disability with marfanoid habitus' + 'zinc finger, DHHC-type containing 9' SubClassOf 'Candidate gene tested in' some 'X-linked intellectual disability with marfanoid habitus' Class: http://www.orpha.net/ORDO/Orphanet_35878 Label: Hyperinsulinism-hyperammonemia syndrome + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_122035 Label: GATA binding protein 4 - 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' + 'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_159272 Label: radixin - 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_159213 Label: TRIO and F-actin binding protein - 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_75496 Label: Ehlers-Danlos syndrome, progeroid type - 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_123115 Label: low density lipoprotein receptor-related protein 5 + 'low density lipoprotein receptor-related protein 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated polycystic liver disease' Class: http://www.orpha.net/ORDO/Orphanet_119053 Label: bone morphogenetic protein receptor, type IB + 'bone morphogenetic protein receptor, type IB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acromesomelic dysplasia, Grebe type' Class: http://www.orpha.net/ORDO/Orphanet_119089 Label: Bartter syndrome, infantile, with sensorineural deafness (Barttin) - 'Bartter syndrome, infantile, with sensorineural deafness (Barttin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'Bartter syndrome, infantile, with sensorineural deafness (Barttin)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_242924 Label: tight junction protein 2 + 'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' Class: http://www.orpha.net/ORDO/Orphanet_98974 Label: Fuchs endothelial corneal dystrophy + 'Fuchs endothelial corneal dystrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_98969 Label: Macular corneal dystrophy - 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Macular corneal dystrophy' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_231040 Label: Familial generalized lentiginosis - 'Familial generalized lentiginosis' SubClassOf 'group of disorders' - 'Familial generalized lentiginosis' SubClassOf 'Hyperpigmentation of the skin' - 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'part_of' some 'Genetic hyperpigmentation of the skin' + 'Familial generalized lentiginosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1201 Label: Atresia of small intestine + 'Atresia of small intestine' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_2382 Label: Lennox-Gastaut syndrome + 'Lennox-Gastaut syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_2330 Label: Kasabach-Merritt syndrome - 'Kasabach-Merritt syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_332055 Label: piezo-type mechanosensitive ion channel component 2 + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gordon syndrome' + 'piezo-type mechanosensitive ion channel component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Marden-Walker syndrome' Class: http://www.orpha.net/ORDO/Orphanet_220402 Label: Limited cutaneous systemic sclerosis + 'Limited cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_233062 Label: agrin - 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'agrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_233032 Label: low density lipoprotein receptor-related protein 4 - 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'low density lipoprotein receptor-related protein 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_34521 Label: Distal myopathy with early respiratory muscle involvement - 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_1388 Label: Catel-Manzke syndrome - 'Catel-Manzke syndrome' SubClassOf 'has_inheritance' some 'x linked recessive' Class: http://www.orpha.net/ORDO/Orphanet_45358 Label: Congenital fibrosis of extraocular muscles + 'Congenital fibrosis of extraocular muscles' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_328932 Label: cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_93672 Label: Juvenile dermatomyositis + 'Juvenile dermatomyositis' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_2462 Label: Shprintzen-Goldberg syndrome + 'Shprintzen-Goldberg syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_284454 Label: Acute zonal occult outer retinopathy - 'Acute zonal occult outer retinopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Acute zonal occult outer retinopathy' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_81 Label: Antisynthetase syndrome - 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Antisynthetase syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Antisynthetase syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Antisynthetase syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Antisynthetase syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_64 Label: Alstr�m syndrome - 'Alstr�m syndrome' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Alstr�m syndrome' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_225329 Label: glutaredoxin, cysteine rich 1 - 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_225351 Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 + 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Small cell carcinoma of the ovary' Class: http://www.orpha.net/ORDO/Orphanet_225343 Label: SH3 and PX domains 2B + 'SH3 and PX domains 2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dermato-cardio-skeletal syndrome, Borrone type' Class: http://www.orpha.net/ORDO/Orphanet_160311 Label: muscle, skeletal, receptor tyrosine kinase - 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'muscle, skeletal, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_1041 Label: Hydrops fetalis - 'Hydrops fetalis' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_99094 Label: Laubry-Pezzi syndrome + 'Laubry-Pezzi syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Laubry-Pezzi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_99095 Label: Gerbode defect + 'Gerbode defect' SubClassOf 'has_prevalence' some 'Unknown' + 'Gerbode defect' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_1048 Label: Isolated anencephaly/exencephaly - 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Isolated anencephaly/exencephaly' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_251671 Label: Angiocentric glioma + 'Angiocentric glioma' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_251643 Label: Myxopapillary ependymoma + 'Myxopapillary ependymoma' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_251636 Label: Ependymoma + 'Ependymoma' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_227397 Label: protein tyrosine phosphatase, receptor type, Q - 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'protein tyrosine phosphatase, receptor type, Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_121993 Label: gamma-aminobutyric acid (GABA) A receptor, gamma 2 - 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'gamma-aminobutyric acid (GABA) A receptor, gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121991 Label: gamma-aminobutyric acid (GABA) A receptor, delta - 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus context' + 'gamma-aminobutyric acid (GABA) A receptor, delta' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus context' Class: http://www.orpha.net/ORDO/Orphanet_160288 Label: MARVEL domain containing 2 - 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_120819 Label: cysteine-rich with EGF-like domains 1 - 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' + 'cysteine-rich with EGF-like domains 1' SubClassOf 'Major susceptibility factor in' some 'Partial atrioventricular canal' Class: http://www.orpha.net/ORDO/Orphanet_270208 Label: GIPC PDZ domain containing family, member 3 - 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'GIPC PDZ domain containing family, member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' 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 nonsyndromic sensorineural deafness type DFNB' + 'potassium inwardly-rectifying channel, subfamily J, member 10' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_2584 Label: Classical mycosis fungoides + 'Classical mycosis fungoides' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_123641 Label: myosin XVA - 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_123648 Label: myosin VI - 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_123653 Label: myosin VIIA - 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_160240 Label: espin - 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_160244 Label: estrogen-related receptor beta - 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'estrogen-related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_123610 Label: myosin, heavy chain 14, non-muscle + 'myosin, heavy chain 14, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93322 Label: Tibial hemimelia + 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Tibial hemimelia' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_119411 Label: cholinergic receptor, nicotinic, alpha 1 (muscle) - 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, alpha 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_119419 Label: cholinergic receptor, nicotinic, beta 1 (muscle) - 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, beta 1 (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_320793 Label: actin, gamma 2, smooth muscle, enteric + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Myopathic intestinal pseudoobstruction' + 'actin, gamma 2, smooth muscle, enteric' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119422 Label: cholinergic receptor, nicotinic, delta (muscle) - 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, delta (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_119425 Label: cholinergic receptor, nicotinic, epsilon (muscle) - 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'cholinergic receptor, nicotinic, epsilon (muscle)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_86834 Label: Juvenile myelomonocytic leukemia - 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_100057 Label: Renin-angiotensin-aldosterone system-blocker-induced angioedema + 'Renin-angiotensin-aldosterone system-blocker-induced angioedema' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_90185 Label: Non-hereditary late-onset primary lymphedema + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Non-hereditary late-onset primary lymphedema' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_97927 Label: Peripheral resistance to thyroid hormones + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Peripheral resistance to thyroid hormones' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_86873 Label: Aggressive NK-cell leukemia - 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Aggressive NK-cell leukemia' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Aggressive NK-cell leukemia' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_329341 Label: Limbic encephalitis with DPP6 antibodies - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_314022 Label: Gastric adenocarcinoma and proximal polyposis of the stomach - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Rare digestive tumor' - 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Rare gastro-esophageal disease' + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Gastric cancer' Class: http://www.orpha.net/ORDO/Orphanet_1063 Label: Tufted angioma + 'Tufted angioma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' 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 'Postsynaptic congenital myasthenic syndromes' + 'receptor-associated protein of the synapse' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_160337 Label: solute carrier family 26 (anion exchanger), member 5 - 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'solute carrier family 26 (anion exchanger), member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_220393 Label: Diffuse cutaneous systemic sclerosis + 'Diffuse cutaneous systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_160313 Label: myosin IIIA - 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_85193 Label: Idiopathic juvenile osteoporosis - 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Idiopathic juvenile osteoporosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_228302 Label: Carnitine palmitoyl transferase II deficiency, myopathic form - 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_159207 Label: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) + 'FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral parasagittal parieto-occipital polymicrogyria' 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 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'collagen, type XI, alpha 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_90290 Label: CREST syndrome + 'CREST syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_90291 Label: Systemic sclerosis + 'Systemic sclerosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_119306 Label: cyclin-dependent kinase inhibitor 2A - 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2A' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_123436 Label: matrix metallopeptidase 13 (collagenase 3) + 'matrix metallopeptidase 13 (collagenase 3)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metaphyseal chondrodysplasia, Spahr type' Class: http://www.orpha.net/ORDO/Orphanet_159181 Label: pericentrin - 'pericentrin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Seckel syndrome' + 'pericentrin' SubClassOf 'Candidate gene tested in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2763 Label: Osteocraniostenosis - 'Osteocraniostenosis' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_159178 Label: stereocilin - 'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_308573 Label: Glycogen storage disease due to acid maltase deficiency, juvenile onset + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Glycogen storage disease due to acid maltase deficiency, juvenile onset' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_178554 Label: Aggressive primary cutaneous B-cell lymphoma + 'Aggressive primary cutaneous B-cell lymphoma' SubClassOf 'Aggressive B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_178557 Label: Indolent primary cutaneous B-cell lymphoma + 'Indolent primary cutaneous B-cell lymphoma' SubClassOf 'Indolent B-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_308552 Label: Glycogen storage disease due to acid maltase deficiency, infantile onset + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_prevalence' some 'Unknown' + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_90362 Label: Primary intestinal lymphangiectasia + 'Primary intestinal lymphangiectasia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_90308 Label: Klippel-Tr�naunay syndrome - 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Klippel-Tr�naunay syndrome' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_119387 Label: choline O-acetyltransferase - 'choline O-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'choline O-acetyltransferase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_138451 Label: telomerase reverse transcriptase - 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_227071 Label: taperin - 'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_166812 Label: claudin 14 - 'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_166807 Label: deafness, autosomal recessive 59 - 'deafness, autosomal recessive 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'deafness, autosomal recessive 59' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_166800 Label: otoancorin - 'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_102 Label: Multiple system atrophy - 'Multiple system atrophy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Multiple system atrophy' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_120713 Label: collagen, type III, alpha 1 - 'collagen, type III, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial abdominal aortic aneurysm' + 'collagen, type III, alpha 1' SubClassOf 'Major susceptibility factor in' some 'Familial abdominal aortic aneurysm' Class: http://www.orpha.net/ORDO/Orphanet_120716 Label: collagen, type IV, alpha 1 - 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' + 'collagen, type IV, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_119289 Label: cyclin-dependent kinase 4 - 'cyclin-dependent kinase 4' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'cyclin-dependent kinase 4' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_150 Label: Nasopharyngeal carcinoma + 'Nasopharyngeal carcinoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_119281 Label: cadherin-related 23 - 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'cadherin-related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_308604 Label: Glycogen storage disease due to acid maltase deficiency, adult onset + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_prevalence' some 'Unknown' + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_263665 Label: NK-cell enteropathy - 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare gastro-esophageal disease' - 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare intestinal disease' + 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare gastroenterologic disease' Class: http://www.orpha.net/ORDO/Orphanet_36204 Label: Intestinal lymphangiectasia - 'Intestinal lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Intestinal lymphangiectasia' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_244 Label: Primary ciliary dyskinesia - 'Primary ciliary dyskinesia' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Primary ciliary dyskinesia' SubClassOf 'has_inheritance' some 'x linked dominant' + 'Primary ciliary dyskinesia' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_120433 Label: Usher syndrome 1C (autosomal recessive, severe) - 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'Usher syndrome 1C (autosomal recessive, severe)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_221 Label: Dermatomyositis - 'Dermatomyositis' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_118500 Label: sodium channel, voltage-gated, type II, alpha subunit - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus context' - 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus context' + 'sodium channel, voltage-gated, type II, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118507 Label: sodium channel, voltage-gated, type IV, alpha subunit - 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'sodium channel, voltage-gated, type IV, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_118513 Label: sodium channel, voltage-gated, type V, alpha subunit - 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' + 'sodium channel, voltage-gated, type V, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' Class: http://www.orpha.net/ORDO/Orphanet_79084 Label: Familial partial lipodystrophy, K�bberling type - 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Familial partial lipodystrophy, K�bberling type' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_118525 Label: sodium channel, voltage-gated, type IX, alpha subunit - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus context' - 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Modifying germline mutation in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus context' + 'sodium channel, voltage-gated, type IX, alpha subunit' SubClassOf 'Candidate gene tested in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79096 Label: Pyridoxal phosphate-responsive seizures + 'Pyridoxal phosphate-responsive seizures' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_123772 Label: neurofibromin 1 - 'neurofibromin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2978 Label: Chronic intestinal pseudoobstruction - 'Chronic intestinal pseudoobstruction' SubClassOf 'disease' + 'Chronic intestinal pseudoobstruction' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201589 Label: hepatocyte growth factor (hepapoietin A; scatter factor) - 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'hepatocyte growth factor (hepapoietin A; scatter factor)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_171901 Label: Primary cutaneous T-cell lymphoma + 'Primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_121529 Label: empty spiracles homeobox 2 - 'empty spiracles homeobox 2' SubClassOf 'Candidate gene tested in' some 'Schizencephaly' + 'empty spiracles homeobox 2' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_97363 Label: Unilateral multicystic renal dysplasia + 'Unilateral multicystic renal dysplasia' SubClassOf 'has_prevalence' some 'Unknown' + 'Unilateral multicystic renal dysplasia' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Unilateral multicystic renal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_317554 Label: otogelin - 'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_317567 Label: otogelin-like - 'otogelin-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'otogelin-like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_317560 Label: polyribonucleotide nucleotidyltransferase 1 - 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_79102 Label: Thyrotoxic periodic paralysis + 'Thyrotoxic periodic paralysis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_79138 Label: Bickerstaff brainstem encephalitis - 'Bickerstaff brainstem encephalitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_94145 Label: Autosomal dominant cerebellar ataxia type 1 - 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_348 Label: Fructose-1,6-bisphosphatase deficiency - 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_137625 Label: Glycogen storage disease due to muscle and heart glycogen synthase deficiency - 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_inheritance' some 'sporadic' + 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_360 Label: Glioblastoma + 'Glioblastoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_365 Label: Glycogen storage disease due to acid maltase deficiency - 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_391490 Label: Adult-onset myasthenia gravis + 'Adult-onset myasthenia gravis' SubClassOf 'has_prevalence' some '1-5 / 10 000' Class: http://www.orpha.net/ORDO/Orphanet_353330 Label: protection of telomeres 1 + 'protection of telomeres 1' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_316333 Label: calcium and integrin binding family member 2 - 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_199241 Label: Pulmonary capillary hemangiomatosis + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Pulmonary capillary hemangiomatosis' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_316377 Label: calcium binding protein 2 - 'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_258532 Label: methionine sulfoxide reductase B3 - 'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_317476 Label: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_239943 Label: TBC1 domain family, member 24 - 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'TBC1 domain family, member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_36412 Label: Hypocomplementemic urticarial vasculitis - 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Hypocomplementemic urticarial vasculitis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_40923 Label: Eales disease + 'Eales disease' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_123982 Label: oral-facial-digital syndrome 1 - 'oral-facial-digital syndrome 1' SubClassOf 'Candidate gene tested in' some 'Primary ciliary dyskinesia' + 'oral-facial-digital syndrome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_122499 Label: Harvey rat sarcoma viral oncogene homolog - 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' + 'Harvey rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Costello syndrome' Class: http://www.orpha.net/ORDO/Orphanet_88637 Label: Hypomyelination - hypogonadotropic hypogonadism - hypodontia - 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_139778 Label: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) - 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' + 'melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)' SubClassOf 'Major susceptibility factor in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_118381 Label: retinitis pigmentosa GTPase regulator - 'retinitis pigmentosa GTPase regulator' SubClassOf 'Candidate gene tested in' some 'Primary ciliary dyskinesia' + 'retinitis pigmentosa GTPase regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_169402 Label: leucine rich transmembrane and O-methyltransferase domain containing - 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_567 Label: 22q11.2 deletion syndrome + '22q11.2 deletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_544 Label: Diffuse large B-cell lymphoma + 'Diffuse large B-cell lymphoma' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_137867 Label: Madras motor neuron disease - 'Madras motor neuron disease' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Madras motor neuron disease' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_201295 Label: ORAI calcium release-activated calcium modulator 1 + 'ORAI calcium release-activated calcium modulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tubular aggregate myopathy' Class: http://www.orpha.net/ORDO/Orphanet_121823 Label: fumarate hydratase + 'fumarate hydratase' SubClassOf 'Major susceptibility factor in' some 'Hereditary pheochromocytoma-paraganglioma' Class: http://www.orpha.net/ORDO/Orphanet_36397 Label: Adiposis dolorosa + 'Adiposis dolorosa' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_201300 Label: stromal interaction molecule 1 + 'stromal interaction molecule 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Stormorken-Sjaastad-Langslet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_55881 Label: Adamantinoma - 'Adamantinoma' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_118498 Label: sodium channel, voltage-gated, type I, beta subunit - 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type I, beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118489 Label: sodium channel, voltage-gated, type I, alpha subunit - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epilepsy with myoclonic-astatic seizures' - 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' + 'sodium channel, voltage-gated, type I, alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_369867 Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_663 Label: Maternally-inherited progressive external ophthalmoplegia - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_120326 Label: titin + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic multiminicore myopathy' + 'titin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' Class: http://www.orpha.net/ORDO/Orphanet_259373 Label: immunoglobulin-like domain containing receptor 1 - 'immunoglobulin-like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'immunoglobulin-like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_3318 Label: Essential thrombocythemia + 'Essential thrombocythemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_364285 Label: ELMO/CED-12 domain containing 3 - 'ELMO/CED-12 domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'ELMO/CED-12 domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_71271 Label: Split hand - split foot - deafness + 'Split hand - split foot - deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_790 Label: Retinoblastoma - 'Retinoblastoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Retinoblastoma' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_799 Label: Schizencephaly - 'Schizencephaly' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Schizencephaly' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Schizencephaly' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_158410 Label: solute carrier family 2 (facilitated glucose transporter), member 1 - 'solute carrier family 2 (facilitated glucose transporter), member 1' SubClassOf 'Candidate gene tested in' some 'Epilepsy with myoclonic-astatic seizures' Class: http://www.orpha.net/ORDO/Orphanet_120015 Label: tectorin alpha - 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_759 Label: Central precocious puberty + 'Central precocious puberty' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_99978 Label: Klatskin tumor + 'Klatskin tumor' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_753 Label: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_121152 Label: docking protein 7 - 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' + 'docking protein 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndromes' Class: http://www.orpha.net/ORDO/Orphanet_140896 Label: Severe acute respiratory syndrome + 'Severe acute respiratory syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Severe acute respiratory syndrome' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_732 Label: Polymyositis - 'Polymyositis' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_3222 Label: Phosphoribosylpyrophosphate synthetase superactivity - 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' Class: http://www.orpha.net/ORDO/Orphanet_67038 Label: B-cell chronic lymphocytic leukemia + 'B-cell chronic lymphocytic leukemia' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' 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 renal dysplasia' - 'BicC family RNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Bilateral multicystic renal dysplasia' + 'BicC family RNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Unilateral multicystic renal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79644 Label: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_279947 Label: Postorgasmic illness syndrome - 'Postorgasmic illness syndrome' SubClassOf 'has_prevalence' some 'Unknown' - 'Postorgasmic illness syndrome' SubClassOf 'has_inheritance' some 'sporadic' + 'Postorgasmic illness syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_120145 Label: transmembrane inner ear - 'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_120148 Label: transmembrane protease, serine 3 - 'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_120130 Label: transmembrane channel-like 1 - 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'transmembrane channel-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' 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 renal dysplasia' + 'HNF1 homeobox B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral multicystic renal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3128 Label: Sakati-Nyhan syndrome - 'Sakati-Nyhan syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_3189 Label: Congenital pulmonary valve stenosis + 'Congenital pulmonary valve stenosis' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_353699 Label: SLIT and NTRK-like family, member 6 - 'SLIT and NTRK-like family, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'SLIT and NTRK-like family, member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_251056 Label: 6q25 microdeletion syndrome - '6q25 microdeletion syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_117631 Label: ATP-binding cassette, sub-family B (MDR/TAP), member 11 - 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' + 'ATP-binding cassette, sub-family B (MDR/TAP), member 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive familial intrahepatic cholestasis type 2' Class: http://www.orpha.net/ORDO/Orphanet_118725 Label: SIX homeobox 3 - 'SIX homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' + 'SIX homeobox 3' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_124119 Label: protocadherin-related 15 - 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'protocadherin-related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_328743 Label: spectrin repeat containing, nuclear envelope family member 4 - 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'spectrin repeat containing, nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_206572 Label: Overlap myositis + 'Overlap myositis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Overlap myositis' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_247353 Label: Generalized pustular psoriasis - 'Generalized pustular psoriasis' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_2014 Label: Cleft palate + 'Cleft palate' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_263458 Label: Hyperinsulinism due to INSR deficiency - 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Hyperinsulinism due to INSR deficiency' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_122879 Label: Kirsten rat sarcoma viral oncogene homolog - 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Candidate gene tested in' some 'Costello syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99771 Label: Bifid uvula + 'Bifid uvula' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_99772 Label: Cleft velum + 'Cleft velum' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_118703 Label: sonic hedgehog - 'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Schizencephaly' + 'sonic hedgehog' SubClassOf 'Major susceptibility factor in' some 'Schizencephaly' Class: http://www.orpha.net/ORDO/Orphanet_293303 Label: cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) - 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' + 'cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)' SubClassOf 'Candidate gene tested in' some 'Familial melanoma' Class: http://www.orpha.net/ORDO/Orphanet_983 Label: Testicular regression syndrome - 'Testicular regression syndrome' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Testicular regression syndrome' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_124035 Label: otoferlin - 'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_206569 Label: Autoimmune necrotizing myopathy + 'Autoimmune necrotizing myopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Autoimmune necrotizing myopathy' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_46484 Label: Oligodendroglial tumor + 'Oligodendroglial tumor' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' Class: http://www.orpha.net/ORDO/Orphanet_168339 Label: protocadherin 19 - 'protocadherin 19' SubClassOf 'Candidate gene tested in' some 'Dravet syndrome' + 'protocadherin 19' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314938 Label: thrombospondin-type laminin G domain and EAR repeats - 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'thrombospondin-type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_266184 Label: lysyl-tRNA synthetase - 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_118821 Label: solute carrier family 26 (anion exchanger), member 4 - 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'solute carrier family 26 (anion exchanger), member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_83473 Label: Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_139217 Label: deafness, autosomal recessive 31 - 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'deafness, autosomal recessive 31' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_218376 Label: major histocompatibility complex, class I, A - 'major histocompatibility complex, class I, A' SubClassOf 'Major susceptibility factor in' some 'Chorioretinopathy, Birdshot type' + 'major histocompatibility complex, class I, A' SubClassOf 'Major susceptibility factor in' some 'Chorioretinopathy, Birdshot type' Class: http://www.orpha.net/ORDO/Orphanet_205584 Label: natriuretic peptide A + 'natriuretic peptide A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atrial stand still' 2. New Classes: Class: http://www.orpha.net/ORDO/Orphanet_401370 Label: cyclin D2 + 'cyclin D2' SubClassOf 'gene' + 'cyclin D2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_401212 Label: ubiquitin specific peptidase 9, X-linked + 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' + 'ubiquitin specific peptidase 9, X-linked' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401597 Label: TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401564 Label: vacuolar protein sorting 53 homolog (S. cerevisiae) + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive cerebello-cerebral atrophy' + 'vacuolar protein sorting 53 homolog (S. cerevisiae)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2474 Label: McLain-Dekaban syndrome + 'McLain-Dekaban syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400687 Label: kizuna centrosomal protein + 'kizuna centrosomal protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'kizuna centrosomal protein' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400703 Label: integrin, beta 6 + 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypocalcified amelogenesis imperfecta' + 'integrin, beta 6' SubClassOf 'gene' + 'integrin, beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic amelogenesis imperfecta' Class: http://www.orpha.net/ORDO/Orphanet_401603 Label: zinc finger, MYND-type containing 15 + 'zinc finger, MYND-type containing 15' SubClassOf 'gene' + 'zinc finger, MYND-type containing 15' 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_402549 Label: RNA-binding region (RNP1, RRM) containing 3 + 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf 'gene' + 'RNA-binding region (RNP1, RRM) containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IA' Class: http://www.orpha.net/ORDO/Orphanet_402562 Label: nuclear receptor subfamily 2, group F, member 2 + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Partial atrioventricular canal' + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Complete atrioventricular canal' + 'nuclear receptor subfamily 2, group F, member 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_402570 Label: interferon induced with helicase C domain 1 + 'interferon induced with helicase C domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Aicardi-Gouti�res syndrome' + 'interferon induced with helicase C domain 1' 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_402371 Label: epidermal growth factor receptor pathway substrate 8 + 'epidermal growth factor receptor pathway substrate 8' SubClassOf 'gene' + 'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_402379 Label: interleukin 21 + 'interleukin 21' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive early-onset inflammatory bowel disease' + 'interleukin 21' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_402368 Label: glutaredoxin, cysteine rich 2 + 'glutaredoxin, cysteine rich 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive nonsyndromic sensorineural deafness type DFNB' + 'glutaredoxin, cysteine rich 2' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401123 Label: solute carrier family 7, member 14 + 'solute carrier family 7, member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'solute carrier family 7, member 14' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_401132 Label: fibroblast growth factor 20 + 'fibroblast growth factor 20' SubClassOf 'gene' + 'fibroblast growth factor 20' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bilateral renal agenesis' Class: http://www.orpha.net/ORDO/Orphanet_401078 Label: patched domain containing 1 + 'patched domain containing 1' SubClassOf 'gene' + 'patched domain containing 1' SubClassOf 'Candidate gene tested in' some 'X-linked non-syndromic intellectual disability' 3. Deleted Classes: