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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
OMIM:611560 - JOUBERT SYNDROME 7; JBTS7 |
MONDO:0012694 - Joubert syndrome 7 |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

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