{"orpha":1019,"name":"Epstein syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Alport syndrome with macrothrombocytopenia"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease","url":"https://raremap.alftech.space/d/ORPHA-1019/","orphanet_url":"https://www.orpha.net/en/disease/detail/1019","names":{"fr":{"name":"Syndrome d'Epstein","synonyms":["Syndrome d'Alport avec plaquettes géantes"]},"de":{"name":"Epstein-Syndrom","synonyms":["Alport-Syndrom mit Makrothrombozytopenie"]},"es":{"name":"Síndrome de Epstein","synonyms":["Síndrome de Alport con plaquetas gigantes"]},"it":{"name":"Sindrome di Epstein","synonyms":["Sindrome di Alport con macrotrombocitopenia"]},"nl":{"name":"Syndroom van Epstein","synonyms":["Syndroom van Alport met macrotrombocytopenie"]},"pt":{"name":"Síndrome Epstein","synonyms":["Síndrome Alport com macrotrombocitopenia"]},"pl":{"name":"Zespół Epsteina","synonyms":["Zespół Alporta z makrotrombocytopenią"]},"cs":{"name":"Epsteinův syndrom","synonyms":["Alportův syndrom provázený makrotrombocytopenií"]},"uk":{"name":"Синдром Епштейна","synonyms":["Синдром Альпорта з макротромбоцитопенією"]},"zh":{"name":"Epstein 综合征","synonyms":["Alport综合征伴巨血小板减少症"]},"tr":{"name":"Epstein sendromu","synonyms":["Makrotrombositopenili Alport sendromu"]}},"xrefs":[{"source":"UMLS","code":"C0398641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":182050,"name":"MYH9-related syndromic thrombocytopenia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}