Disease association ontology term - MONDO:0017623 - PTEN hamartoma tumor syndrome
Term summary
- ID
- MONDO:0017623
- Name
- PTEN hamartoma tumor syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
