Bannayan-Riley-Ruvalcaba syndrome (DOID:0050657)
Alliance: disease page
Synonyms: Bannayan-Zonana syndrome; Cowden syndrome 1; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome
Alt IDs: OMIM:158350, ICD10CM:Q87.89, MESH:D006223, NCI:C3939, ORDO:109
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.