Rhabdoid tumor predisposition syndrome 1

Definition

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.

Also known as familial rhabdoid tumor caused by mutation in SMARCB1, familial rhabdoid tumour caused by mutation in SMARCB1, rhabdoid tumor predisposition syndrome 1, rhabdoid tumor predisposition syndrome type 1, rhabdoid tumors, somatic, rhabdoid tumour predisposition syndrome type 1, SMARCB1 familial rhabdoid tumor, SMARCB1 familial rhabdoid tumour — per MONDO

Also identified as

• DOID 0070618 per MONDO
• MESH C563738 per MONDO
• NCIT C178393 per MONDO
• OMIM 609322 per MONDO
• UMLS C1836327 per MONDO