Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (6)
DOID:1935 - Bardet-Biedl syndrome


Disease Ontology Definition:A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Synonyms:


In Mondo Disease Ontology:
MONDO:0015229 - Bardet-Biedl syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : nphp1, bbs2, arl6, bbs4, sdccag8, bbs9, ccdc28b, bbs5, bbs10, lztfl1, mkks, bbs1, tmem67, bbs7, ttc8, [+]

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)