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Summary Literature (0)
DOID:0110998 - Joubert syndrome 3

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.

Synonyms: JBTS3

Echinobase Genes : ahi1

OMIM:608629 - joubert syndrome 3; jbts3

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)