autosomal recessive disease Bardet-Biedl syndrome NCI:C118632 disease_ontology ORDO:110 UMLS_CUI:C0752166 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. OMIM mapping confirmed by DO. [SN]. ICD10CM:Q87.89 SNOMEDCT_US_2018_03_01:5619004 MESH:D020788 OMIM:PS209900 DOID:1935 GARD:6866