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Disease Ontology Browser
Joubert syndrome 2 (DOID:0110988)
Alliance: disease page
Synonyms: cerebellooculorenal syndrome 2; CORS2; JBTS2
Alt IDs: OMIM:608091, MESH:C536294
Definition: A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.


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
01/21/2020
MGI 6.14
The Jackson Laboratory