{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA","OXPHOS disease due to a large-scale single deletion of mitochondrial DNA","OXPHOS disease due to a large-scale single deletion 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-254767/","orphanet_url":"https://www.orpha.net/en/disease/detail/254767","names":{"fr":{"name":"Anomalie de la phosphorylation oxydative mitochondriale due à une délétion unique de l'ADN mitochondrial","synonyms":["Anomalie de la phosphorylation oxydative mitochondriale due à une délétion unique de l'ADNmt","Maladie OXPHOS due à une délétion unique de l'ADN mitochondrial","Maladie OXPHOS due à une délétion unique de l'ADNmt"]},"de":{"name":"Mitochondriale Störungen der oxidativen Phosphorylierung durch umfangreiche Einzeldeletionen der mitochondrialen DNA","synonyms":["OXPHOS-Defekt durch umfangreiche Einzeldeletionen der mtDNA","OXPHOS-Krankheit durch umfangreiche Einzeldeletionen der mitochondrialen DANN","Störung der oxidativen Phosphorylierung (OXPHOS) durch umfangreiche Einzeldeletionen der mtDNA"]},"es":{"name":"Trastorno de la fosforilación oxidativa mitocondrial por una deleción única de ADN mitocondrial a gran escala","synonyms":["Enfermedad OXPHOS por una deleción única de ADN mitocondrial a gran escala","Enfermedad OXPHOS por una deleción única de ADNmt a gran escala","Trastorno de la fosforilación oxidativa mitocondrial por una deleción única de ADNmt a gran escala"]},"it":{"name":"Difetto della fosforilazione ossidativa mitocondriale da delezione singola a grande scala del DNA mitocondriale","synonyms":["Difetto della fosforilazione ossidativa mitocondriale da delezione singola a grande scala del mtDNA","Malattia OXPHOS da delezione singola a grande scala del DNA mitocondriale","Malattia OXPHOS da delezione singola a grande scala del mtDNA"]},"nl":{"name":"Stoornis van mitochondriale oxidatieve fosforylatie door grootschalige enkelvoudige deletie van mitochondriaal DNA","synonyms":["OXPHOS-ziekte door grootschalige enkelvoudige deletie van mitochondriaal DNA","OXPHOS-ziekte door grootschalige enkelvoudige deletie van mtDNA","Stoornis van mitochondriale oxidatieve fosforylatie door grootschalige enkelvoudige deletie van mtDNA"]},"pt":{"name":"Doença da fosforilação oxidativa mitocondrial por grande deleção no ADN mitocondrial","synonyms":["Doença da OXPHOS por uma grande deleção no ADN mitocondrial","Doença da OXPHOS por uma grande deleção no ADNmt","Doença da fosforilação oxidativa mitocondrial por uma grande deleção no ADNmt"]},"pl":{"name":"Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu dużej pojedyńczej delecji mitochondrialnego DNA","synonyms":["Choroba OXPHOS z powodu dużej pojedyńczej delecji mitochondrialnego DNA","Choroba OXPHOS z powodu dużej pojedyńczej delecji mtDNA","Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu dużej pojedyńczej delecji mtDNA"]},"cs":{"name":"Porucha mitochondriální oxidativní fosforylace na podkladě rozsáhlé delece mitochondriální DNA","synonyms":["Porucha mitochondriální oxidativní fosforylace způsobená jednotlivou delecí mtDNA o velkém měřítku","Porucha OXPHOS způsobená jednotlivou delecí mitochondriální DNA o velkém měřítku","Porucha OXPHOS způsobená jednotlivou delecí mtDNA o velkém měřítku"]},"uk":{"name":"Порушення окислювального фосфорилювання мітохондрій внаслідок великомасштабної поодинокої делеції мітохондріальної ДНК","synonyms":["Порушення мітохондріального окисного фосфорилювання внаслідок великомасштабної одноразової делеції мтДНК","Захворювання OXPHOS, спричинене великомасштабною одиночною делецією мітохондріальної ДНК","Захворювання OXPHOS, спричинене масштабною одноразовою делецією мтДНК"]},"zh":{"name":"线粒体DNA单一大片段缺失所致线粒体氧化磷酸化障碍","synonyms":["线粒体DNA单一大片段缺失所致线粒体氧化磷酸化障碍"]},"tr":{"name":"Mitokondriyal DNA'nın büyük ölçekli tek delesyonu nedeniyle mitokondriyal oksidatif fosforilasyon bozukluğu","synonyms":["MtDNA'nın büyük ölçekli tek bir delesyona bağlı OXPHOS hastalığı","Mitokondriyal DNA'nın büyük ölçekli tek bir delesyona bağlı OXPHOS hastalığı","Büyük ölçekli tek bir mtDNA delesyonu nedeniyle mitokondriyal oksidatif fosforilasyon bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"16792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679643","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":329336,"name":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","type":"Disease"},{"orpha":1670,"name":"Chronic diarrhea with villous atrophy","type":"Disease"},{"orpha":480,"name":"Kearns-Sayre syndrome","type":"Disease"},{"orpha":663,"name":"Mitochondrial DNA-related progressive external ophthalmoplegia","type":"Disease"},{"orpha":699,"name":"Pearson syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}