{"orpha":223713,"name":"Mitochondrial oxidative phosphorylation disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["OXPHOS disease"],"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-223713/","orphanet_url":"https://www.orpha.net/en/disease/detail/223713","names":{"fr":{"name":"Anomalie de la phosphorylation oxydative mitochondriale","synonyms":["Maladie OXPHOS"]},"de":{"name":"Mitochondriale Störungen der oxidativen Phosphorylierung","synonyms":["OXPHOS-Krankheit"]},"es":{"name":"Anomalía de la fosforilación oxidativa mitocondrial","synonyms":["Enfermedad OXPHOS"]},"it":{"name":"Difetto della fosforilazione ossidativa mitocondriale","synonyms":["Malattia OXPHOS"]},"nl":{"name":"Stoornis van mitochondriale oxidatieve fosforylatie","synonyms":["OXPHOS-ziekte"]},"pt":{"name":"Doença da fosforilação oxidativa mitocondrial"},"pl":{"name":"Zaburzenie miochondrialnej fosforylacji oksydacyjnej","synonyms":["Choroba OXPHOS"]},"cs":{"name":"Porucha mitochondriální oxidativní fosforylace","synonyms":["OXPHOS nemoc"]},"uk":{"name":"Порушення окисного фосфорилювання мітохондрій","synonyms":["Хвороба OXPHOS"]},"zh":{"name":"线粒体氧化磷酸化障碍","synonyms":["氧化磷酸化障碍"]},"tr":{"name":"Mitokondriyal oksidatif fosforilasyon bozukluğu","synonyms":["OXPHOS hastalığı"]}},"xrefs":[{"source":"ICD-11","code":"5C53.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1204111545"},{"source":"MONDO","code":"0016387","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16387","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68380,"name":"Mitochondrial disease","classifications":[150,156]}],"children":[{"orpha":254846,"name":"Isolated oxidative phosphorylation complex disorder","type":"Category"},{"orpha":254758,"name":"Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies","type":"Category"},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}