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Disease Ontology Browser
Joubert syndrome 4 (DOID:0110999)
Alliance: disease page
Synonyms: JBTS4
Alt IDs: OMIM:609583, MESH:C536296
Definition: A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory