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Disease Ontology Browser
Joubert syndrome 5 (DOID:0111000)
Alliance: disease page
Synonyms: JBTS5
Alt IDs: OMIM:610188, MESH:C537688
Definition: A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.

Disease References using Mouse Models (3)
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
03/25/2025
MGI 6.24 		The Jackson Laboratory