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Summary Literature (0)
DOID:0111004 - Joubert syndrome 9

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.

Synonyms: JBTS9

Xenbase Genes : cc2d2a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012849 - Joubert syndrome 9

MIM:
MIM:612285 - JOUBERT SYNDROME 9; JBTS9

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): digenic disease (is_a), Joubert syndrome (is_a)