{"orpha":780,"name":"Rhabdomyosarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-780/","orphanet_url":"https://www.orpha.net/en/disease/detail/780","names":{"fr":{"name":"Rhabdomyosarcome","definition":"Le rhabdomyosarcome est une tumeur maligne des tissus mous qui se développe à partir des cellules musculaires striées. Il s'agit de la tumeur la plus fréquente chez les enfants et les adolescents."},"de":{"name":"Rhabdomyosarkom","definition":"Das Rhabdomyosarkom ist ein maligner Weichteiltumor, der sich aus Zellen des quergestreiften Muskels entwickelt."},"es":{"name":"Rabdomiosarcoma","definition":"Es un tumor maligno de los tejidos blandos que se desarrolla a partir de las células musculares estriadas. Es el tumor más frecuente en niños y adolescentes."},"it":{"name":"Rabdomiosarcoma"},"nl":{"name":"Rhabdomyosarcoom","definition":"Een maligne wekedelentumor die ontwikkelt uit cellen van dwarsgestreepte spieren. Het is de meest voorkomende tumor bij kinderen en adolescenten."},"pt":{"name":"Rabdomiossarcoma"},"pl":{"name":"Mięsak prążkowanokomórkowy"},"cs":{"name":"Rhabdomyosarkom"},"uk":{"name":"Рабдоміосаркома","definition":"A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents."},"zh":{"name":"舌横纹肌肉瘤"},"tr":{"name":"Rabdomyosarkom"}},"xrefs":[{"source":"OMIM","code":"180295","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"268210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"268220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B55","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"800945476"},{"source":"ICD-11","code":"2B55.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"120669036"},{"source":"ICD-11","code":"2B55.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1041071513"},{"source":"ICD-11","code":"2B55.2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"479113214"},{"source":"ICD-11","code":"2B55.Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0005212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035412","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":206982,"name":"Muscular tumor","classifications":[181]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[{"orpha":99756,"name":"Alveolar rhabdomyosarcoma","type":"Clinical subtype"},{"orpha":99757,"name":"Embryonal rhabdomyosarcoma","type":"Clinical subtype"},{"orpha":293199,"name":"Pleomorphic rhabdomyosarcoma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SLC67A1","name":"solute carrier family 67 member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"9520460[PMID]","hgnc":"10964","ensembl":"ENSG00000110628","omim":"602631","loci":["11p15.4"],"via":{"orpha":99757,"name":"Embryonal rhabdomyosarcoma"}},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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