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Summary Literature (0)
DOID:0110996 - Joubert syndrome 27


Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.

Synonyms: JBTS27,

Xenbase Genes : b9d1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014927 - Joubert syndrome 27


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)