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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: 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.

Disease References using Mouse Models (15)

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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory