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 |