Term Name: | PTEN hamartoma tumor syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080191] ( DOID:0080191 ) |