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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:0007924 - Bannayan-Riley-Ruvalcaba syndrome |
Other Model Organisms: Alliance, 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)