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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:

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)