{"orpha":254758,"name":"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies","OXPHOS disease due to mitochondrial DNA anomalies","OXPHOS disease due to mtDNA anomalies"],"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-254758/","orphanet_url":"https://www.orpha.net/en/disease/detail/254758","names":{"fr":{"name":"Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADN mitochondrial","synonyms":["Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADNmt","Maladie OXPHOS due à des anomalies de l'ADN mitochondrial","Maladie OXPHOS due à des anomalies de l'ADNmt"]},"de":{"name":"Mitochondriale Störungen der oxidativen Phosphorylierung durch Anomalien der mitochondrialen DNA","synonyms":["OXPHOS-Defekt durch mtDNA-Anomalien","OXPHOS-Krankheit durch mitochondriale DNA-Anomalien","Störung der oxidativen Phosphorylierung (OXPHOS) durch mtDNA-Anomalien"]},"es":{"name":"Trastorno de la fosforilación oxidativa mitocondrial por anomalías del ADN mitocondrial","synonyms":["Enfermedad OXPHOS por anomalías del ADN mitocondrial","Enfermedad OXPHOS por anomalías del ADNmt","Trastorno de la fosforilación oxidativa mitocondrial por anomalías del ADNmt"]},"it":{"name":"Difetto della fosforilazione ossidativa mitocondriale da anomalie del DNA mitocondriale","synonyms":["Difetto della fosforilazione ossidativa mitocondriale da anomalie del mtDNA","Malattia OXPHOS da anomalie del DNA mitocondriale","Malattia OXPHOS da anomalie del mtDNA"]},"nl":{"name":"Stoornis van mitochondriale oxidatieve fosforylatie door anomalieën van mitochondriaal DNA","synonyms":["OXPHOS-ziekte door anomalieën van mitochondriaal DNA","OXPHOS-ziekte door mtDNA-anomalieën","Stoornis van mitochondriale oxidatieve fosforylatie door mtDNA-anomalieën"]},"pt":{"name":"Doença da fosforilação oxidativa mitocondrial por anomalias no ADN mitocondrial","synonyms":["Doença da OXPHOS por anomalias no ADN mitocondrial","Doença da OXPHOS por anomalias no ADNmt","Doença da fosforilação oxidativa mitocondrial por anomalias no ADNmt"]},"pl":{"name":"Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu anomalii mitochondrialnego DNA","synonyms":["Choroba OXPHOS z powodu anomalii mitochondrialnego DNA","Choroba OXPHOS z powodu anomalii mtDNA","Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu anomalii mtDNA"]},"cs":{"name":"Porucha mitochondriální oxidativní fosforylace způsobená anomáliemi mitochondriální DNA","synonyms":["Porucha oxidativní fosforylace způsobená anomáliemi mtDNA","OXPHOS porucha způsobená anomáliemi mitochondriální DNA","OXPHOS porucha způsobená anomáliemi mtDNA"]},"uk":{"name":"Порушення мітохондріального окисного фосфорилювання через аномалії мітохондріальної ДНК","synonyms":["Порушення мітохондріального окисного фосфорилювання внаслідок аномалій мтДНК","Захворювання OXPHOS через аномалії мітохондріальної ДНК","Хвороба OXPHOS через аномалії мтДНК"]},"zh":{"name":"线粒体DNA异常所致线粒体氧化磷酸化障碍","synonyms":["线粒体DNA异常所致OXPHOS病"]},"tr":{"name":"Mitokondriyal DNA anomalilerine bağlı mitokondriyal oksidatif fosforilasyon bozukluğu","synonyms":["MtDNA anomalilerine bağlı mitokondriyal oksidatif fosforilasyon bozukluğu","MtDNA anomalilerine bağlı OXPHOS hastalığı","Mitokondriyal DNA anomalilerine bağlı OXPHOS hastalığı"]}},"xrefs":[{"source":"MONDO","code":"16791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":254793,"name":"OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":223713,"name":"Mitochondrial oxidative phosphorylation disorder","classifications":[150,156]}],"children":[{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","type":"Category"},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}