|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||An autosomal recessive disease 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. (Human Disease Ontology, DOID_1935)|
|Downloads & Tools|
8 genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.