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. The disease is MONDO_0017623 (PTEN hamartoma tumor syndrome). Also known as: PHTS, PTEN-related Hamartoma tumor syndrome.