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Disease Ontology Browser
Joubert syndrome 14 (DOID:0110983)
Alliance: disease page
Synonyms: JBTS14
Alt IDs: OMIM:614424
Definition: A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory