DO_rare_slim NCIthesaurus has material basis in Cowden syndrome 1 ICD10CM:Q85.81 UMLS_CUI:C1866398 ICDO:9493/0 GARD:6901 BRRS SNOMEDCT_US_2025_09_01:763867001 UMLS_CUI:C0391826 ORDO:109 MIM:158350 SNOMEDCT_US_2025_09_01:722859001 UMLS_CUI:C1866398 ORDO:65285 NCI:C179915 NCI:C179915 ORDO:137608 ORDO:137608 UMLS_CUI:C0391826 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. GARD:12800 UMLS_CUI:C1959582 UMLS_CUI:C1959582 ORDO:306498 ICD10CM:Q85.81 ORDO:306498 ORDO:65285 SNOMEDCT_US_2025_09_01:716862002 disease_ontology DOID:0080191 MESH:D006223 GARD:12800 UMLS_CUI:C4706610 ICDO:9493/0 DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome NCI:C179930 SNOMEDCT_US_2025_09_01:67944007 NCI:C8419 GARD:6901 GARD:5887 Bannayan-Zonana syndrome Lhermitte-Duclos disease UMLS_CUI:C4706610 NCI:C179930 MESH:D016715 NCI:C8419 MESH:D016715 OMIM mapping confirmed by DO. [SN]. PHTS PTEN hamartoma tumor syndrome PTEN hamartoma tumour syndrome Proteus-like syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome SOLAMEN syndrome dysplastic cerebellar gangliocytoma dysplastic gangliocytoma of cerebellum segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome autosomal dominant disease Cowden syndrome autosomal dominant inheritance