Term Name: Bannayan-Riley-Ruvalcaba syndrome
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 )

Relationships
is a type of: autosomal dominant disease Cowden syndrome