Term Name: | Bannayan-Riley-Ruvalcaba syndrome |
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Synonyms: | Bannayan-Zonana syndrome, Cowden syndrome 1, Riley-Smith syndrome, Ruvalcaba-Myhre-Smith 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 ) |