{"orpha":96076,"name":"Beckwith-Wiedemann syndrome due to 11p15 microduplication","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Beckwith-Wiedemann syndrome","url":"https://raremap.alftech.space/d/ORPHA-96076/","orphanet_url":"https://www.orpha.net/en/disease/detail/96076","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15"},"de":{"name":"Beckwith-Wiedemann-Syndrom durch Mikroduplikation 11p15","synonyms":["Duplikation 11p15, distale"]},"es":{"name":"Síndrome de Beckwith-Wiedemann por microduplicación 11p15"},"it":{"name":"Sindrome di Beckwith-Wiedemann da microduplicazione 11p15"},"nl":{"name":"Syndroom van Beckwith-Wiedemann door 11p15-microduplicatie"},"pt":{"name":"Trissomia distal 11p15"},"pl":{"name":"Zespół Beckwitha i Wiedemanna spowodowany mikroduplikacją 11p15"},"cs":{"name":"Beckwithův-Wiedemannův syndrom způsobený mikroduplikací 11p15","synonyms":["Beckwith-Wiedemannův syndrom způsobený mikroduplikací 11p15"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений мікродуплікацією 11p15"},"zh":{"name":"11p15微重复所致贝克威思-威德曼综合征"},"tr":{"name":"11p15 mikroduplikasyonuna bağlı Beckwith-Wiedemann sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":116,"name":"Beckwith-Wiedemann syndrome","classifications":[146,147,156,188,200,202,209,233]},{"orpha":262785,"name":"Partial duplication of the short arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}