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Echinobase
Summary Literature (0)
DOID:0110980 - Joubert syndrome 1

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

Synonyms: CORS1, CPD4, JBTS1, cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV,

Echinobase Genes :


OMIM:
MIM:213300 - joubert syndrome 1; jbts1

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)