autosomal recessive disease Bardet-Biedl syndrome NCI:C118632 disease_ontology SNOMEDCT_US_2025_09_01:5619004 ORDO:110 ICD10CM:Q87.83 UMLS_CUI:C0752166 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. MIM:PS209900 MESH:D020788 DOID:1935 GARD:6866 OMIM mapping confirmed by DO. [SN]. syndrome