PTEN hamartoma tumor syndrome

Term ID

DOID:0080191

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. (3)

References

• GARD:12800

Ontology

Human Disease   ( DOID:0080191 )