{"orpha":231117,"name":"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15","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-231117/","orphanet_url":"https://www.orpha.net/en/disease/detail/231117","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15"},"de":{"name":"Beckwith-Wiedemann-Syndrom durch Imprintingdefekt von 11p15"},"es":{"name":"Síndrome de Beckwith-Wiedemann por defectos de impronta de la región 11p15"},"it":{"name":"Sindrome di Beckwith-Wiedemann da difetto dell'imprinting di 11p15"},"nl":{"name":"Syndroom van Beckwith-Wiedemann door imprintingsdefect van 11p15"},"pt":{"name":"Síndrome de Beckwith-Wiedemann por defeito no 'imprinting' de 11q15"},"pl":{"name":"Zespół Beckwitha i Wiedemanna z powodu defektu imprintingu 11p15"},"cs":{"name":"Beckwithův-Wiedemannův syndrom způsobený poruchou imprintingu 11p15","synonyms":["Beckwith-Wiedemannův syndrom způsobený poruchou imprintingu 11p15"]},"uk":{"name":"Синдром Беквіта-Відемана, зумовлений дефектом імпринтингу 11р15"},"zh":{"name":"11p15印迹缺陷所致Beckwith-Wiedemann综合征"},"tr":{"name":"11p15'in imprinting defektine 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":"0016475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680922","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]}],"children":[],"genes":[{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"21863054[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"]},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21863054[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"]},{"symbol":"KCNQ1OT1","name":"KCNQ1 opposite strand/antisense transcript 1","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"12019213[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"6295","ensembl":"ENSG00000269821","omim":"604115","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}