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Disease Ontology Browser
Joubert syndrome (DOID:0050777)
Synonyms: JBTS
Alt IDs: OMIM:213300, OMIM:300804, OMIM:608091, OMIM:608629, OMIM:609583, OMIM:610188, OMIM:610688, OMIM:611560, OMIM:612285, OMIM:612291, OMIM:614173, OMIM:614424, OMIM:614464, OMIM:614465, OMIM:614615, OMIM:614815, OMIM:614970, OMIM:615636, OMIM:615665, OMIM:616654, ORDO:475
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Disease References using Mouse Models (6)

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
04/11/2017
MGI 6.08
The Jackson Laboratory