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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

In OMIM:
OMIM:608629 - JOUBERT SYNDROME 3; JBTS3

In Mondo Disease Ontology:
MONDO:0012078 - Joubert syndrome 3

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ahi1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Joubert syndrome (is_a)