Disease association ontology term - MONDO:0016063 - Cowden disease
Term summary
- ID
- MONDO:0016063
- Name
- Cowden disease
- Ontology or CV name
- Disease association
- Definition
- A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
