Term Name:	Cowden syndrome 1
Synonyms:	Bannayan-Riley-Ruvalcaba syndrome, Bannayan-Zonana syndrome, BRRS, dysplastic cerebellar gangliocytoma, dysplastic gangliocytoma of cerebellum, 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
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.
Ontology:	Human Disease [DOID:0050657]   ( DOID:0050657 )