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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://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK1488/, https://www.ncbi.nlm.nih.gov/pubmed/22628360
Xrefs

GARD:12800

Subsets

DO_cancer_slim

DO_rare_slim

Parent Relationships

is_a syndrome

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