########################################### ##### ##### ##### ##### # # # # # # # # # # ##### # # # # # # ## # # # # # # # # # # # # # # # # # # # # ##### # # ##### ##### ########################################### Release notes : Version: 1.4 Date : 7th July 2014 1. No. of classes modified: 84 2. No. of classes that have been added: 37 3. No. of classes that have been deleted: 13 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_221346 Label: neuroblastoma RAS viral (v-ras) oncogene homolog - 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune lymphoproliferative syndrome' + 'neuroblastoma RAS viral (v-ras) oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_121002 Label: cytochrome P450, family 4, subfamily V, polypeptide 2 - 'cytochrome P450, family 4, subfamily V, polypeptide 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_397744 Label: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal hereditary motor neuropathy' 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 I' Class: http://www.orpha.net/ORDO/Orphanet_2118 Label: Hawkinsinuria - 'Hawkinsinuria' SubClassOf 'has_prevalence' some 'Unknown' + 'Hawkinsinuria' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_123253 Label: Meckel syndrome, type 1 + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' + 'Meckel syndrome, type 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome with ocular defect' Class: http://www.orpha.net/ORDO/Orphanet_123201 Label: met proto-oncogene - 'met proto-oncogene' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'met proto-oncogene' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_64740 Label: Recurrent acute pancreatitis + 'Recurrent acute pancreatitis' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_123058 Label: ligase IV, DNA, ATP-dependent + 'ligase IV, DNA, ATP-dependent' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dubowitz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159313 Label: zinc finger, DHHC-type containing 9 - 'zinc finger, DHHC-type containing 9' SubClassOf 'Candidate gene tested in' some 'X-linked intellectual disability with marfanoid habitus' + 'zinc finger, DHHC-type containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability with marfanoid habitus' Class: http://www.orpha.net/ORDO/Orphanet_117882 Label: pleckstrin homology domain containing, family G (with RhoGef domain) member 4 - 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 4' + 'pleckstrin homology domain containing, family G (with RhoGef domain) member 4' SubClassOf 'Candidate gene tested in' some 'Spinocerebellar ataxia type 4' Class: http://www.orpha.net/ORDO/Orphanet_93611 Label: Autosomal recessive distal renal tubular acidosis with deafness - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'part_of' some 'Distal renal tubular acidosis' - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'clinical subtype' - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_93609 Label: Autosomal recessive distal renal tubular acidosis without deafness - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'clinical subtype' - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_prevalence' some 'Unknown' - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'part_of' some 'Distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_225286 Label: caspase recruitment domain family, member 9 + 'caspase recruitment domain family, member 9' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_397587 Class: http://www.orpha.net/ORDO/Orphanet_3400 Label: Aorto-ventricular tunnel - 'Aorto-ventricular tunnel' SubClassOf 'group of disorders' - 'Aorto-ventricular tunnel' SubClassOf 'Ascending aorta anomaly' + 'Aorto-ventricular tunnel' SubClassOf 'part_of' some 'Ascending aorta anomaly' + 'Aorto-ventricular tunnel' SubClassOf 'morphological anomaly' 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 I' Class: http://www.orpha.net/ORDO/Orphanet_397685 Label: Familial hyperprolactinemia + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare genetic hypothalamic or pituitary disease' + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_321350 Label: MDM2 oncogene, E3 ubiquitin protein ligase + 'MDM2 oncogene, E3 ubiquitin protein ligase' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119559 Label: aryl hydrocarbon receptor interacting protein-like 1 - 'aryl hydrocarbon receptor interacting protein-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_306577 Label: Sodium channelopathy-related small fiber neuropathy + 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_160303 Label: mitochondrially encoded tRNA isoleucine - 'mitochondrially encoded tRNA isoleucine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' - 'mitochondrially encoded tRNA isoleucine' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_251688 Label: retinitis pigmentosa 1-like 1 - 'retinitis pigmentosa 1-like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_99070 Label: Aorto-right ventricular tunnel - 'Aorto-right ventricular tunnel' SubClassOf 'morphological anomaly' + 'Aorto-right ventricular tunnel' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_99071 Label: Aorto-left ventricular tunnel - 'Aorto-left ventricular tunnel' SubClassOf 'morphological anomaly' + 'Aorto-left ventricular tunnel' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121989 Label: gamma-aminobutyric acid (GABA) A receptor, alpha 1 + 'gamma-aminobutyric acid (GABA) A receptor, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_291751 Label: distal-less homeobox 5 + 'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation' Class: http://www.orpha.net/ORDO/Orphanet_2526 Label: Microcephaly - lymphedema - chorioretinopathy + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_prevalence' some 'Unknown' + 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label: catenin (cadherin-associated protein), beta 1, 88kDa - 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma, childhood-onset' + 'catenin (cadherin-associated protein), beta 1, 88kDa' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_370413 Label: eukaryotic translation elongation factor 2 - 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' + 'eukaryotic translation elongation factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' Class: http://www.orpha.net/ORDO/Orphanet_293838 Label: Fatal infantile encephalopathy-pulmonary hypertension syndrome - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_270354 Label: B9 protein domain 1 + 'B9 protein domain 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138722 Label: v-raf-1 murine leukemia viral oncogene homolog 1 + 'v-raf-1 murine leukemia viral oncogene homolog 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_123562 Label: mitochondrially encoded NADH dehydrogenase 5 - 'mitochondrially encoded NADH dehydrogenase 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123567 Label: mitochondrially encoded NADH dehydrogenase 6 - 'mitochondrially encoded NADH dehydrogenase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2675 Label: Neuroaxonal dystrophy - renal tubular acidosis - 'Neuroaxonal dystrophy - renal tubular acidosis' SubClassOf 'disease' - 'Neuroaxonal dystrophy - renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' - 'Neuroaxonal dystrophy - renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Neuroaxonal dystrophy - renal tubular acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Neuroaxonal dystrophy - renal tubular acidosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_123547 Label: mitochondrially encoded NADH dehydrogenase 3 - 'mitochondrially encoded NADH dehydrogenase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Sporadic Leigh syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400453 Label: mitochondrially encoded 16S RNA - 'mitochondrially encoded 16S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' - 'mitochondrially encoded 16S RNA' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_119300 Label: cyclin-dependent kinase inhibitor 1C (p57, Kip2) + 'cyclin-dependent kinase inhibitor 1C (p57, Kip2)' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397590 Class: http://www.orpha.net/ORDO/Orphanet_123465 Label: myeloproliferative leukemia virus oncogene + 'myeloproliferative leukemia virus oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397692 Class: http://www.orpha.net/ORDO/Orphanet_189131 Label: matrin 3 + 'matrin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_90399 Label: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_90398 Label: Localized lichen myxedematosus with mixed features of different subtypes + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Localized lichen myxedematosus with mixed features of different subtypes' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_213 Label: Cystinosis - 'Cystinosis' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' - 'Cystinosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Cystinosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Cystinosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_209285 Label: dicer 1, ribonuclease type III - 'dicer 1, ribonuclease type III' SubClassOf 'Major susceptibility factor in' some 'Pleuropulmonary blastoma family tumor susceptibility syndrome' + 'dicer 1, ribonuclease type III' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pleuropulmonary blastoma family tumor susceptibility syndrome' Class: http://www.orpha.net/ORDO/Orphanet_227079 Label: transmembrane protein 127 + 'transmembrane protein 127' SubClassOf 'Major susceptibility factor in' some 'Clear cell renal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_118023 Label: prion protein + 'prion protein' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397606 Class: http://www.orpha.net/ORDO/Orphanet_212614 Label: spinocerebellar ataxia 26 - 'spinocerebellar ataxia 26' SubClassOf 'gene' - 'spinocerebellar ataxia 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' Class: http://www.orpha.net/ORDO/Orphanet_284 Label: Alveolar echinococcosis - 'Alveolar echinococcosis' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Alveolar echinococcosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_123797 Label: NK2 homeobox 5 - 'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypoplastic left heart syndrome' + 'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Hypoplastic left heart syndrome' Class: http://www.orpha.net/ORDO/Orphanet_89939 Label: Hyperkalemic renal tubular acidosis - 'Hyperkalemic renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Hyperkalemic renal tubular acidosis' SubClassOf 'disease' - 'Hyperkalemic renal tubular acidosis' SubClassOf 'has_prevalence' some 'Unknown' - 'Hyperkalemic renal tubular acidosis' SubClassOf 'part_of' some 'Primary renal tubular acidosis' + 'Hyperkalemic renal tubular acidosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79085 Label: Familial partial lipodystrophy due to AKT2 mutations + 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_2970 Label: Prune belly syndrome + 'Prune belly syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_166683 Label: syntaxin binding protein 1 + 'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Dravet syndrome' Class: http://www.orpha.net/ORDO/Orphanet_79133 Label: Focal facial dermal dysplasia type I - 'Focal facial dermal dysplasia type I' SubClassOf 'has_inheritance' some 'autosomal recessive' 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_397735 Class: http://www.orpha.net/ORDO/Orphanet_123874 Label: nephronophthisis 1 (juvenile) + 'nephronophthisis 1 (juvenile)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bardet-Biedl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_86797 Label: Atypical lichen myxedematosus + 'Atypical lichen myxedematosus' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Atypical lichen myxedematosus' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_201509 Label: KIT ligand - 'KIT ligand' SubClassOf 'Major susceptibility factor in' some 'Testicular seminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_440 Label: Familial hypospadias + 'Familial hypospadias' SubClassOf 'has_inheritance' some 'x linked recessive' Class: http://www.orpha.net/ORDO/Orphanet_404 Label: Familial hyperaldosteronism type 2 - 'Familial hyperaldosteronism type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' - 'Familial hyperaldosteronism type 2' SubClassOf 'has_prevalence' some 'Unknown' + 'Familial hyperaldosteronism type 2' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Familial hyperaldosteronism type 2' SubClassOf 'has_AgeOfOnset' some 'Adulthood' Class: http://www.orpha.net/ORDO/Orphanet_218045 Label: dynein, axonemal, assembly factor 1 - 'dynein, axonemal, assembly factor 1' SubClassOf 'Major susceptibility factor in' some 'Testicular seminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_524 Label: Li-Fraumeni syndrome - 'Li-Fraumeni syndrome' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Li-Fraumeni syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_275523 Label: Dianzani autoimmune lymphoproliferative disease + 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_289583 Label: bolA family member 3 - 'bolA family member 3' SubClassOf 'gene' - 'bolA family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289576 Label: NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) - 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'gene' - 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome' - 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' Class: http://www.orpha.net/ORDO/Orphanet_53691 Label: Congenital cornea plana + 'Congenital cornea plana' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital cornea plana' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital cornea plana' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_97290 Label: Familial papillary thyroid carcinoma with renal papillary neoplasia - 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'part_of' some 'Familial renal cell carcinoma' + 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'part_of' some 'Inherited renal cell cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_390741 Label: centrosome and spindle pole associated protein 1 + 'centrosome and spindle pole associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397715 Class: http://www.orpha.net/ORDO/Orphanet_121102 Label: dihydrolipoamide dehydrogenase - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leigh syndrome with nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120091 Label: thrombopoietin + 'thrombopoietin' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_397692 Class: http://www.orpha.net/ORDO/Orphanet_201089 Label: epidermal growth factor - 'epidermal growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Adult hepatocellular carcinoma' + 'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Hepatocellular carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_353749 Label: sprouty homolog 4 (Drosophila) - 'sprouty homolog 4 (Drosophila)' SubClassOf 'Major susceptibility factor in' some 'Testicular seminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_882 Label: Tyrosinemia type 1 - 'Tyrosinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Tyrosinemia type 1' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Tyrosinemia type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Tyrosinemia type 1' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_158595 Label: transcription factor 4 - 'transcription factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pallister-Hall syndrome' Class: http://www.orpha.net/ORDO/Orphanet_255199 Label: Sporadic Leigh syndrome - 'Sporadic Leigh syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Sporadic Leigh syndrome' SubClassOf 'has_inheritance' some 'sporadic' - 'Sporadic Leigh syndrome' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Sporadic Leigh syndrome' SubClassOf 'disease' + 'Sporadic Leigh syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_122879 Label: Kirsten rat sarcoma viral oncogene homolog + 'Kirsten rat sarcoma viral oncogene homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'RAS-associated autoimmune lymphoproliferative disease' Class: http://www.orpha.net/ORDO/Orphanet_255225 Label: Maternally-inherited mitochondrial hypertrophic cardiomyopathy - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'has_inheritance' some 'mitochondrial inheritance' - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'disease' - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_255229 Label: Navajo neurohepatopathy + 'Navajo neurohepatopathy' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_117785 Label: phosphoglycerate dehydrogenase + 'phosphoglycerate dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Neu-Laxova syndrome' 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 with deafness' Class: http://www.orpha.net/ORDO/Orphanet_118861 Label: ATPase, H+ transporting, lysosomal V0 subunit a4 - 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis without deafness' - 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_99865 Label: Spermatocytic seminoma + 'Spermatocytic seminoma' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Spermatocytic seminoma' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_188805 Label: mitochondrially encoded tRNA glycine - 'mitochondrially encoded tRNA glycine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' - 'mitochondrially encoded tRNA glycine' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_103915 Label: Immunoproliferative small intestinal disease - 'Immunoproliferative small intestinal disease' SubClassOf 'has_inheritance' some 'sporadic' - 'Immunoproliferative small intestinal disease' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Immunoproliferative small intestinal disease' SubClassOf 'has_prevalence' some 'Unknown' - 'Immunoproliferative small intestinal disease' SubClassOf 'disease' - 'Immunoproliferative small intestinal disease' SubClassOf 'part_of' some 'Severe immune-mediated enteropathy' + 'Immunoproliferative small intestinal disease' SubClassOf 'obsolete_class' 2. Classes added: Class: http://www.orpha.net/ORDO/Orphanet_397709 Label: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397715 Label: Joubert syndrome with Jeune asphyxiating thoracic dystrophy + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Joubert syndrome and related disorders' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'malformation syndrome' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'part_of' some 'Short rib-polydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397735 Label: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'disease' + 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'part_of' some 'Autosomal dominant Charcot-Marie-Tooth disease type 2' Class: http://www.orpha.net/ORDO/Orphanet_397725 Label: COASY protein-associated neurodegeneration + 'COASY protein-associated neurodegeneration' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation' + 'COASY protein-associated neurodegeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_397587 Label: Deep dermatophytosis + 'Deep dermatophytosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Deep dermatophytosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_352613 Label: Male infertility due to NANOS1 mutation + 'Male infertility due to NANOS1 mutation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_397596 Label: Activated PIK3-delta syndrome + 'Activated PIK3-delta syndrome' SubClassOf 'disease' + 'Activated PIK3-delta syndrome' SubClassOf 'part_of' some 'Combined T and B cell immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_397590 Label: Silver-Russell syndrome due to a point mutation + 'Silver-Russell syndrome due to a point mutation' SubClassOf 'etiological subtype' + 'Silver-Russell syndrome due to a point mutation' SubClassOf 'part_of' some 'Silver-Russell syndrome' Class: http://www.orpha.net/ORDO/Orphanet_397593 Label: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217034 Label: Male infertility with normal virilization due to meiosis defect + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_397692 Label: Hereditary aplastic anemia + 'Hereditary aplastic anemia' SubClassOf 'disease' + 'Hereditary aplastic anemia' SubClassOf 'part_of' some 'Rare constitutional medullar aplasia' Class: http://www.orpha.net/ORDO/Orphanet_397695 Label: 3q27.3 microdeletion syndrome + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' + '3q27.3 microdeletion syndrome' SubClassOf 'disease' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397606 Label: Chronic diarrhea with hereditary sensory and autonomic neuropathy + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Inherited prion disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'disease' + 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_397612 Label: Macrocephaly-developmental delay syndrome + 'Macrocephaly-developmental delay syndrome' SubClassOf 'malformation syndrome' + 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' + 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Macrocephaly-developmental delay syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_397618 Label: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'disease' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Optic neuropathy' + 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'part_of' some 'Genetic vitreous-retinal disease' Class: http://www.orpha.net/ORDO/Orphanet_397615 Label: Obesity due to CEP19 deficiency + 'Obesity due to CEP19 deficiency' SubClassOf 'disease' + 'Obesity due to CEP19 deficiency' SubClassOf 'part_of' some 'Genetic non-syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_397623 Label: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' + 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Mesomelic and rhizo-mesomelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_401757 Label: CoA synthase + 'CoA synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'COASY protein-associated neurodegeneration' + 'CoA synthase' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400633 Label: centrosomal protein 19kDa + 'centrosomal protein 19kDa' SubClassOf 'gene' + 'centrosomal protein 19kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Obesity due to CEP19 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_400638 Label: solute carrier family 38, member 8 + 'solute carrier family 38, member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' + 'solute carrier family 38, member 8' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400629 Label: kaptin (actin binding protein) + 'kaptin (actin binding protein)' SubClassOf 'gene' + 'kaptin (actin binding protein)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Macrocephaly-developmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400640 Label: goosecoid homeobox + 'goosecoid homeobox' SubClassOf 'gene' + 'goosecoid homeobox' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400611 Label: NFS1 cysteine desulfurase + 'NFS1 cysteine desulfurase' SubClassOf 'gene' + 'NFS1 cysteine desulfurase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' Class: http://www.orpha.net/ORDO/Orphanet_400623 Label: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'gene' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Activated PIK3-delta syndrome' Class: http://www.orpha.net/ORDO/Orphanet_402744 Label: protein tyrosine phosphatase, non-receptor type 3 + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'gene' + 'protein tyrosine phosphatase, non-receptor type 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' Class: http://www.orpha.net/ORDO/Orphanet_400605 Label: LYR motif containing 4 + 'LYR motif containing 4' SubClassOf 'gene' + 'LYR motif containing 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' Class: http://www.orpha.net/ORDO/Orphanet_402648 Label: adaptor-related protein complex 1, sigma 3 subunit + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pustulosis palmaris et plantaris' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'gene' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized pustular psoriasis' + 'adaptor-related protein complex 1, sigma 3 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrodermatitis continua suppurativa of Hallopeau' Class: http://www.orpha.net/ORDO/Orphanet_118053 Label: protein S (alpha) + 'protein S (alpha)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary thrombophilia due to congenital protein S deficiency' + 'protein S (alpha)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2870 Label: Peyronie syndrome + 'Peyronie syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_403591 Label: cyclin O + 'cyclin O' SubClassOf 'gene' + 'cyclin O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Primary ciliary dyskinesia' Class: http://www.orpha.net/ORDO/Orphanet_403669 Label: adenylate cyclase 6 + 'adenylate cyclase 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' + 'adenylate cyclase 6' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403662 Label: contactin associated protein 1 + 'contactin associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination neuropathy - arthrogryposis' + 'contactin associated protein 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_403672 Label: collagen, type XII, alpha 1 + 'collagen, type XII, alpha 1' SubClassOf 'gene' + 'collagen, type XII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bethlem myopathy' + 'collagen, type XII, alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Congenital muscular dystrophy, Ullrich type' Class: http://www.orpha.net/ORDO/Orphanet_403187 Label: spinocerebellar ataxia 32 + 'spinocerebellar ataxia 32' SubClassOf 'gene' + 'spinocerebellar ataxia 32' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 32' Class: http://www.orpha.net/ORDO/Orphanet_743 Label: Hereditary thrombophilia due to congenital protein S deficiency + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'part_of' some 'Rare hereditary thrombophilia' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'disease' + 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_403061 Label: epithelial membrane protein 2 + 'epithelial membrane protein 2' SubClassOf 'gene' + 'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' Class: http://www.orpha.net/ORDO/Orphanet_403096 Label: pre-mRNA processing factor 4 + 'pre-mRNA processing factor 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'pre-mRNA processing factor 4' SubClassOf 'gene' 3. Classes deleted: 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 I' Class: http://www.orpha.net/ORDO/Orphanet_93611 Label: Autosomal recessive distal renal tubular acidosis with deafness + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'part_of' some 'Distal renal tubular acidosis' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'clinical subtype' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive distal renal tubular acidosis with deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_93609 Label: Autosomal recessive distal renal tubular acidosis without deafness + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'clinical subtype' + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_prevalence' some 'Unknown' + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Autosomal recessive distal renal tubular acidosis without deafness' SubClassOf 'part_of' some 'Distal renal tubular acidosis' 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 I' Class: http://www.orpha.net/ORDO/Orphanet_160303 Label: mitochondrially encoded tRNA isoleucine + 'mitochondrially encoded tRNA isoleucine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' + 'mitochondrially encoded tRNA isoleucine' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_293838 Label: Fatal infantile encephalopathy-pulmonary hypertension syndrome + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_400453 Label: mitochondrially encoded 16S RNA + 'mitochondrially encoded 16S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' + 'mitochondrially encoded 16S RNA' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_212614 Label: spinocerebellar ataxia 26 + 'spinocerebellar ataxia 26' SubClassOf 'gene' + 'spinocerebellar ataxia 26' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 26' Class: http://www.orpha.net/ORDO/Orphanet_289583 Label: bolA family member 3 + 'bolA family member 3' SubClassOf 'gene' + 'bolA family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome' Class: http://www.orpha.net/ORDO/Orphanet_289576 Label: NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) + 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'gene' + 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal multiple mitochondrial dysfunction syndrome' + 'NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fatal infantile encephalopathy-pulmonary hypertension syndrome' 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 with deafness' Class: http://www.orpha.net/ORDO/Orphanet_118861 Label: ATPase, H+ transporting, lysosomal V0 subunit a4 + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive distal renal tubular acidosis without deafness' + 'ATPase, H+ transporting, lysosomal V0 subunit a4' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_188805 Label: mitochondrially encoded tRNA glycine + 'mitochondrially encoded tRNA glycine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' + 'mitochondrially encoded tRNA glycine' SubClassOf 'gene'