{"orpha":231127,"name":"Beckwith-Wiedemann syndrome due to 11p15 microdeletion","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-231127/","orphanet_url":"https://www.orpha.net/en/disease/detail/231127","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à une microdélétion 11p15"},"de":{"name":"Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15"},"es":{"name":"Síndrome de Beckwith-Wiedemann por microdeleción 11p15"},"it":{"name":"Sindrome di Beckwith-Wiedemann da microdelezione 11p15"},"nl":{"name":"Syndroom van Beckwith-Wiedemann door 11p15-microdeletie"},"pt":{"name":"Síndrome de Beckwith-Wiedemann por microdeleção 11q15"},"pl":{"name":"Zespół Beckwitha i Wiedemanna z powodu mikrodelecji 11p15"},"cs":{"name":"Beckwithův-Wiedemannův syndrom způsobený mikrodelecí 11p15","synonyms":["Beckwith-Wiedemannův syndrom způsobený mikrodelecí 11p15"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений мікроделецією 11p15"},"zh":{"name":"11p15微缺失所致Beckwith-Wiedemann综合征"},"tr":{"name":"11p15 mikrodelesyonuna 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":"0016477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680919","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":261947,"name":"Partial deletion of the short arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"15314640[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}