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Disease Ontology Browser
Joubert syndrome 25 (DOID:0110994)
Alliance: disease page
Synonyms: JBTS25
Alt IDs: OMIM:616781
Definition: A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.


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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
02/13/2018
MGI 6.11
The Jackson Laboratory