{"orpha":96193,"name":"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Mosaic paternal uniparental disomy of chromosome 11","UPD(11)pat"],"definition":null,"note":"This disease is described under Beckwith-Wiedemann syndrome","url":"https://raremap.alftech.space/d/ORPHA-96193/","orphanet_url":"https://www.orpha.net/en/disease/detail/96193","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à une disomie uniparentale d'origine paternelle du chromosome 11","synonyms":["Disomie uniparentale mosaïque d'origine paternelle chromosome 11","UPD(11) paternelle","UPD(11)pat"]},"de":{"name":"Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11","synonyms":["Paternale UPD(11) im Mosaik","UPD(11)pat"]},"es":{"name":"Síndrome de Beckwith-Wiedemann por disomía uniparental paterna del cromosoma 11","synonyms":["Disomía uniparental paterna en mosaico del cromosoma 11","UPD(11)pat"]},"it":{"name":"Sindrome di Beckwith-Wiedemann da disomia uniparentale paterna del cromosoma 11","synonyms":["Disomia uniparentale paterna del cromosoma 11, tipo in mosaico","UPD(11)pat","UPDP 11 in mosaico"]},"nl":{"name":"Syndroom van Beckwith-Wiedemann door paternale uniparentale disomie van chromosoom 11","synonyms":["Mozaïsche paternale uniparentale disomie van chromosoom 11","UPD(11)pat"]},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 11"},"pl":{"name":"Zespół Beckwitha i Wiedemanna z powodu ojcowskiej jednorodzicielskiej disomii chromosomu 11","synonyms":["Mozaikowa ojcowska jednorodzicielska disomia chromosomu 11","UPD(11)pat"]},"cs":{"name":"Beckwithův-Wiedemannův syndrom z důvodu paternální uniparentální dizomie chromozomu 11","synonyms":["Mozaiková paternální uniparentální dizomie chromozomu 11","UPD(11)pat","Beckwith-Wiedemannův syndrom z důvodu paternální uniparentální dizomie chromozomu 11"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений батьковою уніпарентною дисомією хромосоми 11 з боку батька","synonyms":["Мозаїчна однобатьківська дисомія по 11-й хромосомі по лінії батька","UPD(11)pat"]},"zh":{"name":"11号染色体父系单亲二体所致贝克威思-威德曼综合征","synonyms":["嵌合型父源性11号染色体单亲二倍体"]},"tr":{"name":"11. kromozomun paternal uniparental dizomisine bağlı Beckwith-Wiedemann sendromu","synonyms":["UPD (11) pat","11. kromozomun mozaik paternal uniparental dizomisi"]}},"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":"0019923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680249","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":98154,"name":"Paternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}