{"orpha":231130,"name":"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion","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-231130/","orphanet_url":"https://www.orpha.net/en/disease/detail/231130","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à une translocation/inversion 11p15"},"de":{"name":"Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion"},"es":{"name":"Síndrome de Beckwith-Wiedemann por translocación/inversión 11p15"},"it":{"name":"Sindrome di Beckwith-Wiedemann da traslocazione/inversione 11p15"},"nl":{"name":"Syndroom van Beckwith-Wiedemann door 11p15-translocatie/inversie"},"pt":{"name":"Síndrome de Beckwith-Wiedemann por translocação/inversão 11q15"},"pl":{"name":"Zespół Beckwitha i Wiedemanna z powodu translokacji/inwersji 11p15"},"cs":{"name":"Beckwithův-Wiedemannův syndrom způsobený translokací/inverzí 11p15","synonyms":["Beckwith-Wiedemannův syndrom způsobený translokací/inverzí 11p15"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений транслокацією/інверсією 11p15"},"zh":{"name":"11p15易位/倒位所致Beckwith-Wiedemann综合征"},"tr":{"name":"11p15 translokasyon / inversiyona 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":"0016478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680920","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":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}