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Summary Literature (0)
DOID:0111002 - Joubert syndrome 7

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.

Synonyms: JBTS7,

Xenbase Genes : rpgrip1l

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012694 - Joubert syndrome 7


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)