| 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 | |
| SKOS |
exactMatch MIM:613325 |
| Subsets |
DO_rare_slim |
| Synonyms |
RTPS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |