{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["OXPHOS disease with no known mechanism"],"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-254822/","orphanet_url":"https://www.orpha.net/en/disease/detail/254822","names":{"fr":{"name":"Anomalie de la phosphorylation oxydative mitochondriale de mécanisme inconnu","synonyms":["Maladie OXPHOS de mécanisme inconnu"]},"de":{"name":"Mitochondriale Störungen der oxidativen Phosphorylierung mit unbekanntem Mechanismus","synonyms":["OXPHOS-Krankheit ohne bekannte Ursache"]},"es":{"name":"Trastorno de la fosforilación oxidativa mitocondrial de mecanismo desconocido","synonyms":["Enfermedad OXPHOS de mecanismo desconocido"]},"it":{"name":"Difetto della fosforilazione ossidativa mitocondriale da meccanismo sconosciuto","synonyms":["Malattia OXPHOS da meccanismo sconosciuto"]},"nl":{"name":"Stoornis van mitochondriale oxidatieve fosforylatie met onbekend mechanisme","synonyms":["OXPHOS-ziekte met onbekend mechanisme"]},"pt":{"name":"Doença da fosforilação oxidativa mitocondrial de mecanismo desconhecido","synonyms":["Doença da OXPHOS sem mecanismo conhecido"]},"pl":{"name":"Zaburzenie mitochondrialnej fosforylacji oksydacyjnej o nieznanym mechaniźmie","synonyms":["Choroba OXPHOS o nieznanym mechaniźmie"]},"cs":{"name":"Porucha mitochondriální oxidativní fosforylace způsobená neznámým mechanismem","synonyms":["Porucha OXPHOS způsobená neznámým mechanismem"]},"uk":{"name":"Порушення окисного фосфорилювання мітохондрій з невідомим механізмом","synonyms":["Захворювання OXPHOS з невідомим механізмом"]},"zh":{"name":"机制不明的线粒体氧化磷酸化障碍","synonyms":["机制不明的OXPHOS病"]},"tr":{"name":"Mekanizması bilinmeyen mitokondriyal oksidatif fosforilasyon bozukluğu","synonyms":["Mekanizması bilinmeyen OXPHOS hastalığı"]}},"xrefs":[{"source":"MONDO","code":"16799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679634","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]}],"children":[{"orpha":457050,"name":"Autosomal dominant mitochondrial myopathy with exercise intolerance","type":"Disease"},{"orpha":67036,"name":"Autosomal dominant optic atrophy and cataract","type":"Disease"},{"orpha":250932,"name":"Autosomal dominant optic atrophy and peripheral neuropathy","type":"Disease"},{"orpha":98673,"name":"Autosomal dominant optic atrophy, classic form","type":"Disease"},{"orpha":227976,"name":"Autosomal recessive optic atrophy, OPA7 type","type":"Disease"},{"orpha":166105,"name":"FASTKD2-related infantile mitochondrial encephalomyopathy","type":"Disease"},{"orpha":391348,"name":"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome","type":"Disease"},{"orpha":436271,"name":"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","type":"Disease"},{"orpha":50812,"name":"Zellweger-like syndrome without peroxisomal anomalies","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}