| Term Name: | rhabdoid tumor predisposition syndrome 1 |
|---|---|
| Synonyms: | RTPS1 |
| Definition: | A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. |
| Ontology: | Human Disease [DOID:0070618] ( DOID:0070618 ) |