{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Multiple mtDNA deletion 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-254807/","orphanet_url":"https://www.orpha.net/en/disease/detail/254807","names":{"fr":{"name":"Syndrome de délétions multiples de l'ADN mitochondrial","synonyms":["Syndrome de délétions multiples de l'ADNmt"]},"de":{"name":"Mitochondrial DNA-Deletionssyndrom, multiples","synonyms":["mtDNA-Deletionssyndrom, multiples"]},"es":{"name":"Síndrome de deleción múltiple del ADN mitocondrial","synonyms":["Síndrome de deleción múltiple del ADNmt"]},"it":{"name":"Sindrome da delezioni multiple del DNA mitocondriale"},"nl":{"name":"Meervoudig mitochondriaal DNA-deletiesyndroom","synonyms":["Meervoudig mtDNA-deletiesyndroom"]},"pt":{"name":"Síndrome de deleções múltiplas do ADN mitocondrial","synonyms":["Síndrome de deleções múltiplas do ADNmt"]},"pl":{"name":"Zespół wielokrotnych delecji mitochondrialnego DNA","synonyms":["Zespół wielokrotnych delecji mtDNA"]},"cs":{"name":"Syndrom mnohočetné delece mitochondriální DNA","synonyms":["Syndrom mnohočetné delece mtDNA"]},"uk":{"name":"Синдром множинної мітохондріальної ДНК-делеції","synonyms":["Синдром множинної делеції мтДНК"]},"zh":{"name":"多重线粒体DNA缺失综合征","synonyms":["多重线粒体DNA缺失综合征"]},"tr":{"name":"Çoklu mitokondriyal DNA delesyon sendromu","synonyms":["Çoklu mtDNA delesyon sendromu"]}},"xrefs":[{"source":"ICD-11","code":"5C53.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"194083556"},{"source":"MONDO","code":"16797","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679633","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352456,"name":"Mitochondrial DNA maintenance syndrome","classifications":[150,156]}],"children":[{"orpha":329314,"name":"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency","type":"Disease"},{"orpha":254818,"name":"Ataxia neuropathy spectrum","type":"Clinical group"},{"orpha":1215,"name":"Autosomal dominant optic atrophy plus syndrome","type":"Disease"},{"orpha":254892,"name":"Autosomal dominant progressive external ophthalmoplegia","type":"Disease"},{"orpha":254886,"name":"Autosomal recessive progressive external ophthalmoplegia","type":"Disease"},{"orpha":352470,"name":"DNA2-related mitochondrial DNA deletion syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}