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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

In OMIM:
OMIM:611560 - JOUBERT SYNDROME 7; JBTS7

In Mondo Disease Ontology:
MONDO:0012694 - Joubert syndrome 7

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

Xenbase Genes : rpgrip1l

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