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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


In Mondo Disease Ontology:
MONDO:0018772 - Joubert syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): ciliopathy (is_a)