Rhabdoid Tumor Predisposition Syndrome 1
Disease ID: disease_node_20130
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| Dbxref | MIM:609322 |
|---|---|
| Subclassof | DOID_0070617 |
| Data Source | DOID |
| Synonyms | RTPS1 |
| Doid Label | rhabdoid tumor predisposition syndrome 1 |
| Doid Description | A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20130 |
| Doid Id | DOID_0070618 |
| Label | Rhabdoid Tumor Predisposition Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Rhabdoid Tumor Predisposition Syndrome(ID:disease_node_20129) (Disease)