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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

Xenbase Genes : bmpr1a, pten, sdhb, sdhd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007924 - Bannayan-Riley-Ruvalcaba syndrome

OMIM:
OMIM:153480 - MOVED TO 158350
OMIM: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 syndrome (is_a), autosomal dominant disease (is_a), penile disease (is_a), syndrome (is_a)