{"orpha":98672,"name":"Autosomal dominant optic atrophy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ADOA","DOA"],"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-98672/","orphanet_url":"https://www.orpha.net/en/disease/detail/98672","names":{"fr":{"name":"Atrophie optique autosomique dominante","synonyms":["ADOA","AOAD"]},"de":{"name":"Optikusatrophie, autosomal-dominante","synonyms":["ADOA","DOA"]},"es":{"name":"Atrofia óptica autosómica dominante","synonyms":["AOAD","AOD"]},"it":{"name":"Atrofia ottica autosomica dominante","synonyms":["DOA"]},"nl":{"name":"Autosomaal dominante opticusatrofie","synonyms":["ADOA","Autosomaal dominante optische atrofie","DOA"]},"pt":{"name":"Neuropatia óptica autossómica dominante"},"pl":{"name":"Autosomalny dominujący zanik nerwu wzrokowego","synonyms":["DOA","ADOA"]},"cs":{"name":"Autozomálně dominantní atrofie optiku","synonyms":["DOA"]},"uk":{"name":"Аутосомно-домінантна атрофія зорового нерва","synonyms":["ADOA","DOA"]},"zh":{"name":"常染色体显性遗传视神经萎缩","synonyms":["ADOA","DOA"]},"tr":{"name":"Otozomal dominant optik atrofi","synonyms":["DOA","ADOA"]}},"xrefs":[{"source":"MONDO","code":"0020250","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D029241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551508","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98671,"name":"Hereditary optic neuropathy","classifications":[156,189]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[{"orpha":67036,"name":"Autosomal dominant optic atrophy and cataract","type":"Disease"},{"orpha":250932,"name":"Autosomal dominant optic atrophy and peripheral neuropathy","type":"Disease"},{"orpha":1215,"name":"Autosomal dominant optic atrophy plus syndrome","type":"Disease"},{"orpha":98673,"name":"Autosomal dominant optic atrophy, classic form","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Denmark","status":"Validated","source":"22776096[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"United Kingdom","status":"Not yet validated","source":"20417570[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Worldwide","status":"Not yet validated","source":"22776096[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":83.0,"area":"Specific population","status":"Validated","source":"21745197[PMID]"}],"phenotypes":null}