Term Name: PTEN hamartoma tumor syndrome
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 )

Relationships
is a type of: syndrome
has subtype: Cowden syndrome Proteus syndrome