| Metadata | |
|---|---|
| ID | DOID:0070618 |
| Name | rhabdoid tumor predisposition syndrome 1 |
| Definition | A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK469816/ |
| Xrefs | |
| SKOS |
exactMatch MIM:609322 |
| Subsets |
DO_rare_slim |
| Synonyms |
RTPS1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |