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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,

Echinobase Genes :


OMIM:
MIM:612285 - joubert syndrome 9; jbts9 joubert syndrome 9/15, digenic, included

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

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