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Disease Ontology Browser
Cowden syndrome 1 (DOID:0050657)
Alliance: disease page
Synonyms: Bannayan-Riley-Ruvalcaba syndrome; Bannayan-Zonana syndrome; BRRS; dysplastic cerebellar gangliocytoma; dysplastic gangliocytoma of cerebellum; Lhermitte-Duclos disease; PHTS; Proteus-like syndrome; PTEN hamartoma tumor syndrome; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome; SOLAMEN syndrome
Alt IDs: OMIM:158350, ICD10CM:Q85.81, ICD10CM:Q87.89, MESH:D006223, MESH:D016715, NCI:C179915, NCI:C179930, NCI:C3939, NCI:C8419, ORDO:109, ORDO:137608, ORDO:306498, ORDO:65285, UMLS_CUI:C0391826, UMLS_CUI:C1866398, UMLS_CUI:C1959582, UMLS_CUI:C4706610
Definition: 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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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08/05/2025
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