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Disease Ontology Browser
Joubert syndrome (DOID:0050777)
Alliance: disease page
Synonyms: JBTS
Alt IDs: ICD10CM:Q04.3, OMIM:PS213300, 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 (8)
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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Send questions and comments to User Support. 		last database update
03/21/2023
MGI 6.22 		The Jackson Laboratory