{"orpha":352740,"name":"Ocular albinism with congenital sensorineural deafness","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Ocular albinism with congenital sensorineural hearing loss","Waardenburg syndrome type 2 with ocular albinism"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg syndrome type 2","url":"https://raremap.alftech.space/d/ORPHA-352740/","orphanet_url":"https://www.orpha.net/en/disease/detail/352740","names":{"fr":{"name":"Albinisme oculaire avec surdité neurosensorielle congénitale","synonyms":["Syndrome de Waardenburg type 2 avec albinisme oculaire"]},"de":{"name":"Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit","synonyms":["Waardenburg-Syndrom Typ 2 mit okulärem Albinismus"]},"es":{"name":"Albinismo ocular con sordera neurosensorial congénita","synonyms":["Síndrome de Waardenburg con albinismo ocular","Albinismo ocular con hipoacusia neurosensorial congénita"]},"it":{"name":"Albinismo oculare con sordità neurosensoriale congenita","synonyms":["Sindrome di Waardenburg tipo 2 con albinismo oculare"]},"nl":{"name":"Oculair albinisme met congenitale sensorineurale doofheid","synonyms":["Oculair albinisme met congenitaal sensorineuraal gehoorverlies","Syndroom van Waardenburg type 2 met oculair albinisme"]},"pt":{"name":"Albinismo ocular com surdez neurossensorial congénita"},"pl":{"name":"Albinizm oczny z głuchotą zmysłowo-nerwową","synonyms":["Zespół Waardenburga typu 2 z albinizmem ocznym"]},"cs":{"name":"Okulární albinismus s vrozenou senzorineurální hluchotou","synonyms":["Waardenburgův syndrom, typ 2 s okulárním albinismem"]},"uk":{"name":"Очний альбінізм з вродженою сенсоневральною глухотою","synonyms":["Очний альбінізм з вродженою сенсоневральною приглухуватістю","Синдром Ваарденбурга типу 2 з очним альбінізмом"]},"zh":{"name":"眼白化病伴先天性感音神经性聋","synonyms":["眼白化病班先天性感音听力丧失"],"definition":"眼白化病合并先天性感音神经性聋是一种罕见的遗传性眼皮肤疾病，其特征是极重度的先天性感音神经性耳聋，伴有中至重度眼底色素减退、蓝色虹膜或部分异色，以及皮肤斑片状或广泛性色素减退。白色额发、头发过早变白、雀斑、扁豆和咖啡馆斑点经常与此有关。其他高度可变的特征包括视力下降、斜视和虹膜透光缺陷。"},"tr":{"name":"Doğumsal sensörinöral sağırlık ile seyreden oküler albinizm","synonyms":["Oküler albinizm ile seyreden Waardenburg sendromu tip 2","Doğumsal sensörinöral işitme kaybı ile seyreden oküler albinizm"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":895,"name":"Waardenburg syndrome type 2"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}