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Metadata
ID DOID:0060997
Name rhabdoid tumor predisposition syndrome 2
Definition A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/24752781/
Xrefs

MIM:613325

SKOS

exactMatch MIM:613325

Subsets

DO_rare_slim

Synonyms

RTPS2 [EXACT]

Parent Relationships

is_a rhabdoid tumor predisposition syndrome

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