Cowden syndrome 5

Definition

Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.

Also known as Cowden disease caused by mutation in PIK3CA, Cowden syndrome 5, Cowden syndrome type 5, PIK3CA Cowden disease — per MONDO

Also identified as

• DOID 0081001 per MONDO
• OMIM 615108 per MONDO
• UMLS C3554518 per MONDO