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Disease Ontology Browser
Joubert syndrome 16 (DOID:0110985)
Alliance: disease page
Synonyms: JBTS16
Alt IDs: OMIM:614465
Definition: A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/17/2017
MGI 6.10
The Jackson Laboratory