Joubert syndrome 24 Disease Ontology Browser

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Joubert syndrome 24 (DOID:0110993)
Alliance: disease page
Synonyms: JBTS24
Alt IDs: OMIM:616654
Definition: A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.

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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