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Echinobase
Summary Literature (0)
DOID:0111000 - Joubert syndrome 5

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.

Synonyms: JBTS5,

Echinobase Genes : cep290


OMIM:
MIM:610188 - joubert syndrome 5; jbts5

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)