About   Help   FAQ
Disease Ontology Browser
Bannayan-Riley-Ruvalcaba syndrome (DOID:0050657)
Alliance: disease page
Synonyms: Bannayan-Zonana syndrome; Cowden syndrome 1; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome
Alt IDs: OMIM:158350, ICD10CM:Q87.89, MESH:D006223, NCI:C3939, ORDO:109
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory