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Echinobase
Summary Literature (0)
DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome

Disease Ontology 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.

Synonyms: BANNAYAN-ZONANA SYNDROME, Bannayan-Zonana syndrome, Cowden syndrome 1, RILEY-SMITH SYNDROME, RUVALCABA-MYHRE-SMITH SYNDROME, Riley-Smith syndrome, Ruvalcaba-Myhre-Smith syndrome,

Echinobase Genes :


OMIM:
MIM:153480 - bannayan-riley-ruvalcaba syndrome; brrs
MIM:158350 - cowden syndrome 1; cws1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Cowden disease (is_a), autosomal dominant disease (is_a)