Joubert syndrome 35 Disease Ontology Browser

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Disease Ontology Browser

Joubert syndrome 35 (DOID:0061337)
Alliance: disease page
Synonyms: JBTS35
Alt IDs: OMIM:618161, ORDO:475
Definition: A Joubert syndrome that is characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia and that has_material_basis_in homozygous mutation in the ARL3 gene on chromosome 10q24.32.

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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