DO_cancer_slim DO_rare_slim Cowden syndrome 1 obsolete PTEN hamartoma tumor syndrome true disease_ontology GARD:12800 NCI:C179915 DOID:0080191 ORDO:306498 A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. UMLS_CUI:C1959582 ORDO:306498 ICD10CM:Q85.81 ICD10CM:Q85.81 NCI:C179915 GARD:12800 PHTS SNOMEDCT_US_2025_05_01:722859001 UMLS_CUI:C1959582