Bannayan-Riley-Ruvalcaba syndrome

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

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

MIM:153480 - bannayan-riley-ruvalcaba syndrome; brrs

MIM:158350 - cowden syndrome 1; cws1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Cowden syndrome (is_a)