| Metadata | |
|---|---|
| ID | DOID:0050657 |
| Name | Bannayan-Riley-Ruvalcaba syndrome |
| Definition | A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/books/NBK1488/, https://www.ncbi.nlm.nih.gov/pubmed/31062505, https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome, https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Bannayan-Zonana syndrome [EXACT] Cowden syndrome 1 [EXACT] Riley-Smith syndrome [EXACT] Ruvalcaba-Myhre-Smith syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Cowden syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |