{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA","OXPHOS disease due to a point mutation of mitochondrial DNA","OXPHOS disease due to a point mutation of mtDNA"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-254776/","orphanet_url":"https://www.orpha.net/en/disease/detail/254776","names":{"fr":{"name":"Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADN mitochondrial","synonyms":["Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADNmt","Maladie OXPHOS due à une mutation ponctuelle de l'ADN mitochondrial","Maladie OXPHOS due à une mutation ponctuelle de l'ADNmt"]},"de":{"name":"Mitochondriale Störungen der oxidativen Phosphorylierung durch Punktmutation der mitochondrialen DNA","synonyms":["OXPHOS-Defekt durch Punktmutation der mtDNA","OXPHOS-Krankheit durch Punktmutation der mitochondrialen DNA","Störung der oxidativen Phosphorylierung (OXPHOS) durch Punktmutation der mtDNA"]},"es":{"name":"Trastorno de la fosforilación oxidativa mitocondrial por una mutación puntual del ADN mitocondrial","synonyms":["Enfermedad OXPHOS por una mutación puntual del ADN mitocondrial","Enfermedad OXPHOS por una mutación puntual del ADNmt","Trastorno de la fosforilación oxidativa mitocondrial por una mutación puntual del ADNmt"]},"it":{"name":"Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del DNA mitocondriale","synonyms":["Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del mtDNA","Malattia OXPHOS da mutazione puntiforme del DNA mitocondriale","Malattia OXPHOS da mutazione puntiforme del mtDNA"]},"nl":{"name":"Stoornis van mitochondriale oxidatieve fosforylatie door puntmutatie van mitochondriaal DNA","synonyms":["OXPHOS-ziekte door puntmutatie van mitochondriaal DNA","OXPHOS-ziekte door puntmutatie van mtDNA","Stoornis van mitochondriale oxidatieve fosforylatie door puntmutatie van mtDNA"]},"pt":{"name":"Doença da fosforilação oxidativa mitocondrial por mutação pontual no ADN mitocondrial","synonyms":["Doença da OXPHOS por mutação pontual no ADN mitocondrial","Doença da OXPHOS por mutação pontual no ADNmt","Doença da fosforilação oxidativa mitocondrial por mutação pontual no ADNmt"]},"pl":{"name":"Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu punktowej mutacji mitochondrialnego DNA","synonyms":["Choroba OXPHOS z powodu punktowej mutacji mitochondrialnego DNA","Choroba OXPHOS z powodu punktowej mutacji mtDNA","Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu punktowej mutacji mtDNA"]},"cs":{"name":"Porucha mitochondriální oxidativní fosforylace způsobená bodovou mutací mitochondriální DNA","synonyms":["Porucha mitochondriální oxidativní fosforylace způsobená bodovou mutací mtDNA","Porucha OXPHOS způsobená bodovou mutací mitochondriální DNA","Porucha OXPHOS způsobená bodovou mutací mtDNA"]},"uk":{"name":"Порушення окисного фосфорилювання мітохондрій внаслідок точкової мутації мітохондріальної ДНК","synonyms":["Порушення мітохондріального окисного фосфорилювання внаслідок точкової мутації мтДНК","Захворювання OXPHOS, спричинене точковою мутацією мітохондріальної ДНК","Захворювання OXPHOS, спричинене точковою мутацією мтДНК"]},"zh":{"name":"线粒体DNA点突变所致线粒体氧化磷酸化障碍","synonyms":["线粒体DNA点突变所OXPHOS病"]},"tr":{"name":"Mitokondriyal DNA'nın nokta mutasyonuna bağlı mitokondriyal oksidatif fosforilasyon bozukluğu","synonyms":["Mitokondriyal DNA'nın nokta mutasyonuna bağlı OXPHOS hastalığı","MtDNA'nın nokta mutasyonuna bağlı mitokondriyal oksidatif fosforilasyon bozukluğu","MtDNA'nın nokta mutasyonuna bağlı OXPHOS hastalığı"]}},"xrefs":[{"source":"MONDO","code":"16793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679645","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":255225,"name":"OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254758,"name":"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies","classifications":[150,156]}],"children":[{"orpha":620371,"name":"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation","type":"Disease"},{"orpha":324525,"name":"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","type":"Disease"},{"orpha":104,"name":"Leber hereditary optic neuropathy","type":"Disease"},{"orpha":99718,"name":"Leber plus disease","type":"Disease"},{"orpha":550,"name":"MELAS","type":"Disease"},{"orpha":551,"name":"MERRF","type":"Disease"},{"orpha":255210,"name":"Mitochondrial DNA-associated Leigh syndrome","type":"Disease"},{"orpha":1349,"name":"Mitochondrial DNA-related cardiomyopathy and hearing loss","type":"Malformation syndrome"},{"orpha":254851,"name":"Mitochondrial DNA-related dystonia","type":"Disease"},{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","type":"Clinical group"},{"orpha":90641,"name":"Mitochondrial non-syndromic sensorineural deafness","type":"Etiological subtype"},{"orpha":644,"name":"NARP syndrome","type":"Disease"},{"orpha":397750,"name":"Periodic paralysis with later-onset distal motor neuropathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}