{"orpha":352456,"name":"Mitochondrial DNA maintenance syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["mtDNA maintenance syndrome"],"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-352456/","orphanet_url":"https://www.orpha.net/en/disease/detail/352456","names":{"fr":{"name":"Syndrome de maintenance de l'ADN mitochondrial","synonyms":["Syndrome de maintenance de l'ADNmt"]},"de":{"name":"Mitochondriales DNA-Maintenance-Syndrom"},"es":{"name":"Síndrome de mantenimiento del ADN mitocondrial","synonyms":["Síndrome de mantenimiento del ADNmt"]},"it":{"name":"Sindrome del mantenimento del DNA mitocondriale","synonyms":["Sindrome del mantenimento di mtDNA"]},"nl":{"name":"Mitochondriaal DNA-handhavingssyndroom","synonyms":["mtDNA-handhavingssyndroom"]},"pt":{"name":"Síndrome de manutenção do ADN mitocondrial","synonyms":["Síndrome de manutenção do ADNmt"]},"pl":{"name":"Zespół utrzymania mitochondrialnego DNA","synonyms":["Zespół utrzymania mtDNA"]},"cs":{"name":"Syndrom udržování mitochondriální DNA","synonyms":["Syndrom udržování mtDNA"]},"uk":{"name":"Синдром підтримки мітохондріальної ДНК","synonyms":["Синдром підтримки мтДНК"]},"zh":{"name":"线粒体DNA维持综合征","synonyms":["mtDNA维持综合征"]},"tr":{"name":"Mitokondriyal DNA idame sendromu","synonyms":["mtDNA idame sendromu"]}},"xrefs":[{"source":"MONDO","code":"0018121","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679930","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":35698,"name":"Mitochondrial DNA depletion syndrome","type":"Category"},{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease"},{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","type":"Category"},{"orpha":352447,"name":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}