Rhabdoid tumor predisposition syndrome 2

Definition

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.

Also known as familial rhabdoid tumor caused by mutation in SMARCA4, familial rhabdoid tumour caused by mutation in SMARCA4, rhabdoid tumor predisposition syndrome 2, rhabdoid tumor predisposition syndrome type 2, rhabdoid tumour predisposition syndrome type 2, SMARCA4 familial rhabdoid tumor, SMARCA4 familial rhabdoid tumour — per MONDO

Also identified as

• DOID 0060997 per MONDO
• MESH C567643 per MONDO
• NCIT C178394 per MONDO
• OMIM 613325 per MONDO
• UMLS C2750074 per MONDO