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Disease Ontology Browser
Bardet-Biedl syndrome (DOID:1935)
Alliance: disease page
Alt IDs: ICD10CM:Q87.89, MESH:D020788, NCI:C118632, OMIM:PS209900, ORDO:110, UMLS_CUI:C0752166
Definition: 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.

Disease References using Mouse Models (22)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory