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Disease Ontology Browser
Joubert syndrome 37 (DOID:0061340)
Alliance: disease page
Synonyms: JBTS37
Alt IDs: OMIM:619185, ORDO:475
Definition: A Joubert syndrome that is characterized by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21.2.

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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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory