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Summary Literature (4)
DOID:0050777 - Joubert syndrome

Disease Ontology 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.

Synonyms: JBTS

Xenbase Genes : pde6d, nphp1, pibf1, arl3, cep104, cplane1, b9d1, tmem138, cep41, tmem67, armc9, kiaa0753, ofd1, tmem231, arl13b, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018772 - Joubert syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): ciliopathy (is_a)