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Summary Literature (0)
DOID:0080277 - Joubert syndrome 31

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.

Synonyms:

Xenbase Genes : cep120



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

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