{"orpha":918,"name":"ABCD syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome","Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg-Shah syndrome","url":"https://raremap.alftech.space/d/ORPHA-918/","orphanet_url":"https://www.orpha.net/en/disease/detail/918","names":{"fr":{"name":"Syndrome ABCD"},"de":{"name":"ABCD-Syndrom"},"es":{"name":"Síndrome ABCD","synonyms":["Síndrome de albinismo-mechón negro-trastorno de migración celular de los neurocitos intestinales-hipoacusia neurosensorial","Síndrome de albinismo-mechón negro-trastorno de migración celular de los neurocitos intestinales-sordera neurosensorial"]},"it":{"name":"Sindrome ABDC"},"nl":{"name":"ABCD-syndroom","synonyms":["Albinisme - black lock - celmigratiestoornis van de darmneurocyten - sensorineurale doofheid"]},"pt":{"name":"Síndrome ABCD"},"pl":{"name":"Zespół ABCD","synonyms":["Albinizm - czarny lok - zaburzenia migracji neurocytów jelita - głuchota czuciowo-nerwowa"]},"cs":{"name":"ABCD syndrom","synonyms":["Syndrom zahrnující albinismus, černé vlasy, poruchu migrace neuronů střeva a senzorickou hluchotu"]},"uk":{"name":"Синдром ABCD","synonyms":["Синдром альбінізму-чорного замка-порушення міграції нейроцитів кишечника-сенсорної приглухуватості","Синдром альбінізму-чорного замка-порушення міграції нейроцитів кишечника-сенсорної приглухуватості"]},"zh":{"name":"ABCD综合征","synonyms":["白化病-黑发-肠神经细胞迁移障碍-感音神经性聋综合征"]},"tr":{"name":"ABCD sendromu","synonyms":["Bağırsak sensörinöral sağırlık sendromunun nörositlerinin albinizm-siyah kilit hücre göçü bozukluğu","Bağırsak sensörinöral işitme kaybı sendromunun nörositlerinin albinizm-siyah kilit hücre göçü bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"600501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":897,"name":"Waardenburg-Shah syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}