{"orpha":254846,"name":"Isolated oxidative phosphorylation complex disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Isolated respiratory chain complex disorder"],"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-254846/","orphanet_url":"https://www.orpha.net/en/disease/detail/254846","names":{"fr":{"name":"Anomalie isolée d'un complexe de la phosphorylation oxydative","synonyms":["Anomalie isolée d'un complexe de la chaïne respiratoire mitochondriale"]},"de":{"name":"Störungen der oxidativen Phosphorylierung, isolierte","synonyms":["Atmungskettenkomplex, isolierte Störung"]},"es":{"name":"Trastorno aislado de un complejo de la fosforilación oxidativa","synonyms":["Trastorno aislado de un complejo de la cadena respiratoria mitocondrial"]},"it":{"name":"Difetto isolato di un complesso della fosforilazione ossidativa","synonyms":["Difetto isolato di un complesso della catena respiratoria mitocondriale"]},"nl":{"name":"Geïsoleerde stoornis van oxidatieve fosforylatie","synonyms":["Geïsoleerde stoornis van ademhalingsketencomplex"]},"pt":{"name":"Doença isolada do complexo da fosforilação oxidativa","synonyms":["Doença isolada do complexo da cadeia respiratória"]},"pl":{"name":"Izolowane zaburzenie kompleksu fosforylacji oksydacyjnej","synonyms":["Izolowane zaburzenie kompleksu łańcucha oddechowego"]},"cs":{"name":"Izolovaná porucha komplexu oxidativní fosforylace","synonyms":["Izolovaná porucha komplexu dýchacího řetězce"]},"uk":{"name":"Ізольоване порушення комплексу окисного фосфорилювання","synonyms":["Ізольоване порушення комплексу дихального ланцюга"]},"zh":{"name":"孤立性氧化磷酸化复合体障碍","synonyms":["孤立性呼吸链复合体障碍"]},"tr":{"name":"İzole oksidatif fosforilasyon kompleksi bozukluğu","synonyms":["İzole solunum zinciri kompleksi bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"66","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":223713,"name":"Mitochondrial oxidative phosphorylation disorder","classifications":[150,156]}],"children":[{"orpha":254913,"name":"Isolated ATP synthase deficiency","type":"Disease"},{"orpha":2609,"name":"Isolated complex I deficiency","type":"Disease"},{"orpha":1460,"name":"Isolated complex III deficiency","type":"Disease"},{"orpha":254905,"name":"Isolated cytochrome C oxidase deficiency","type":"Disease"},{"orpha":3208,"name":"Isolated succinate-CoQ reductase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}