Term Name: | rhabdoid tumor predisposition syndrome 2 |
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Synonyms: | RTPS2 |
Definition: | A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0060997] ( DOID:0060997 ) |