| Metadata | |
|---|---|
| ID | DOID:0080191 |
| Name | PTEN hamartoma tumor syndrome |
| Definition | A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. https://www.ncbi.nlm.nih.gov/books/NBK1488/, https://www.ncbi.nlm.nih.gov/pubmed/22628360, https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ |
| Xrefs | |
| Subsets |
DO_cancer_slim DO_rare_slim |
| Parent Relationships |
is_a syndrome |