autosomal dominant disease hereditary neoplastic syndrome PTEN hamartoma tumor syndrome https://github.com/monarch-initiative/mondo/issues/9178 https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome SCTID:722859001 UMLS:C1959582 PTEN-related Hamartoma tumor syndrome 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. GARD:0012800 Orphanet:306498 MONDO:0017623 DOID:0080191 MEDGEN:368366 PHTS NORD:1631 NCIT:C179915 PTEN hamartoma tumor syndrome obsolete rare skin tumor or hamartoma developmental defect during embryogenesis