{"orpha":3212,"name":"Autosomal dominant optic atrophy and congenital deafness","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Autosomal dominant optic atrophy and congenital hearing loss","Konigsmark-Knox-Hussels syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant optic atrophy plus syndrome","url":"https://raremap.alftech.space/d/ORPHA-3212/","orphanet_url":"https://www.orpha.net/en/disease/detail/3212","names":{"fr":{"name":"Atrophie optique autosomique dominante et surdité congénitale","synonyms":["Syndrome de Konisgsmark-Knox-Hussels"]},"de":{"name":"Taubheit-Optikusatrophie-Syndrom","synonyms":["Konisgsmark-Knox-Hussels-Syndrom"]},"es":{"name":"Atrofia óptica autosómica dominante y sordera congénita","synonyms":["Atrofia óptica autosómica dominante e hipoacusia congénita","Síndrome de Konigsmark-Knox-Hussels"]},"it":{"name":"Atrofia ottica autosomica dominante - sordità congenita","synonyms":["Sindrome di Konisgsmark-Knox-Hussels"]},"nl":{"name":"Autosomaal dominante opticusatrofie en congenitale doofheid","synonyms":["Autosomaal dominante optische atrofie en congenitale doofheid","Syndroom van Konigsmark-Knox-Hussels"]},"pt":{"name":"Atrofia óptica autossómica dominante e surdez congénita","synonyms":["Atrofia óptica autossómica dominante e perda auditiva congénita","Síndrome Konigsmark-Knox-Hussels"]},"pl":{"name":"Autosomalna dominująca atrofia nerwu wzrokowego i głuchota wrodzona","synonyms":["Zespół Konigsmarka, Knoxa i Husselsa"]},"cs":{"name":"Autozomálně dominantní atrofie optického nervu a vrozená hluchota","synonyms":["Konigsmarkův-Knoxův-Husselsové syndrom","Konigsmark-Knox-Husselsové syndrom"]},"uk":{"name":"Аутосомно-домінантна атрофія зорового нерва та вроджена глухота","synonyms":["Аутосомно-домінантна атрофія зорового нерва та вроджена втрата слуху","Синдром Кенігсмарка - Нокса - Брюсселя"]},"zh":{"name":"常染色体显性遗传视神经萎缩伴先天性耳聋","synonyms":["常染色体显性遗传性视神经萎缩与先天性听力丧失"]},"tr":{"name":"Otozomal dominant optik atrofi ve doğumsal sağırlık","synonyms":["Konigsmark-Knox-Hussels sendromu","Otozomal dominant optik atrofi ve doğumsal işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"125250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":1215,"name":"Autosomal dominant optic atrophy plus syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}