Bardet-Biedl syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Bardet-Biedl syndrome
DO_rare_slim, NCIthesaurus
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:1935