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.


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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015229 - Bardet-Biedl syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)