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Disease Ontology Browser
Joubert syndrome 22 (DOID:0110991)
Alliance: disease page
Synonyms: JBTS22
Alt IDs: OMIM:615665
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.

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
11/12/2024
MGI 6.24 		The Jackson Laboratory