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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

Xenbase Genes : cplane1, tmem138, cep41, tmem231, tctn2, tmem237, inpp5el, ttc21b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008944 - Joubert syndrome 1

OMIM:
OMIM: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)