{"orpha":231108,"name":"Rhabdoid tumor predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RTPS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-231108/","orphanet_url":"https://www.orpha.net/en/disease/detail/231108","names":{"fr":{"name":"Syndrome de prédisposition aux tumeurs rhabdoïdes","synonyms":["RTPS"]},"de":{"name":"Rhabdoidtumor-Prädispositionssyndrom","synonyms":["RTPS"]},"es":{"name":"Tumor rabdoide familiar"},"it":{"name":"Sindrome da predisposizione ai tumori rabdoidi","synonyms":["RTPS"]},"nl":{"name":"Syndroom van predispositie voor rhabdoïde tumor","synonyms":["RTPS"]},"pt":{"name":"Síndrome de predisposição a tumor rabdóide","synonyms":["RTPS"]},"pl":{"name":"Rodzinny guz rabdoidalny","synonyms":["Zespół predyspozycji do guza rabdoidalnego"]},"cs":{"name":"Familiární rhabdoidní nádor","synonyms":["RTPS","Syndrom predispozice k rhabdoidnímu nádoru"]},"uk":{"name":"Синдром схильності до рабдоїдної пухлини","synonyms":["RTPS"]},"zh":{"name":"家族性横纹肌样肿瘤","synonyms":["横纹肌样瘤易感综合征"]},"tr":{"name":"Ailesel rabdoid tümör","synonyms":["RTPS","Rabdoid tümör yatkınlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"609322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613325","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B5K","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C2985524","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"SMARCB1","name":"SWI/SNF related BAF chromatin remodeling complex subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10521299[PMID]","hgnc":"11103","ensembl":"ENSG00000099956","omim":"601607","loci":["22q11.23"]},{"symbol":"SMARCA4","name":"SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20137775[PMID]_21566516[PMID]","hgnc":"11100","ensembl":"ENSG00000127616","omim":"603254","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}