{"orpha":3226,"name":"Deafness-lymphedema-leukemia syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Emberger syndrome","Hearing loss-lymphedema-leukemia syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GATA2 deficiency spectrum","url":"https://raremap.alftech.space/d/ORPHA-3226/","orphanet_url":"https://www.orpha.net/en/disease/detail/3226","names":{"fr":{"name":"Syndrome de surdité-lymphoedème-leucémie","synonyms":["Syndrome d'Emberger"]},"de":{"name":"Taubheit-Lymphödem-Leukämie-Syndrom","synonyms":["Emberger-Syndrom"]},"es":{"name":"Síndrome de sordera-linfedema-leucemia","synonyms":["Síndrome de Emberger","Síndrome de hipoacusia-linfedema-leucemia"]},"it":{"name":"Sindrome sordità-linfedema-leucemia","synonyms":["Sindrome di Emberger"]},"nl":{"name":"Doofheid - lymfoedeem - leukemie-syndroom","synonyms":["Syndroom van Emberger"]},"pt":{"name":"Síndrome de surdez-linfedema-leucemia","synonyms":["Síndrome Emberger","Síndrome de perda auditiva-linfedema-leucemia"]},"pl":{"name":"Głuchota -obrzęk limfatyczny - białaczka","synonyms":["Zespół Embergera"]},"cs":{"name":"Syndrom zahrnující hluchotu, lymfedém a leukémii","synonyms":["Embergerův syndrom"]},"uk":{"name":"Синдром глухоти-лімфедеми-лейкозу","synonyms":["Синдром Ембергера","Синдром втрати слуху-лімфедеми-лейкозу"]},"zh":{"name":"耳聋-淋巴水肿-白血病综合征","synonyms":["听力丧失-淋巴水肿-白血病综合征"]},"tr":{"name":"Sağırlık-lenfödem-lösemi sendromu","synonyms":["Emberger sendromu","İşitme kaybı-lenfödem-lösemi sendromu"]}},"xrefs":[{"source":"OMIM","code":"614038","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D46.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1818043307"},{"source":"MONDO","code":"0013540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279664","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13030","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":228423,"name":"GATA2 deficiency spectrum"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}