DISEASES

Disease-gene associations mined from literature

Human genes for Bardet-Biedl syndrome

Bardet-Biedl syndrome [DOID:1935]

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:  Bardet-Biedl syndrome,  BardetBiedl syndrome,  Bardet-Biedl disease,  Bardet-Biedl disorder,  Bardet-Biedl syndromes ...

Linkouts:  OMIM