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rhabdoid tumor predisposition syndrome 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0013224

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: SMARCA4 familial rhabdoid tumour rhabdoid tumor predisposition syndrome type 2 SMARCA4 familial rhabdoid tumor familial rhabdoid tumour caused by mutation in SMARCA4 rhabdoid tumour predisposition syndrome type 2 familial rhabdoid tumor caused by mutation in SMARCA4 rhabdoid tumor predisposition syndrome 2

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C2750074

https://omim.org/entry/613325

http://identifiers.org/mesh/C567643

http://purl.obolibrary.org/obo/NCIT_C178394

id

MONDO:0013224

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013224