Joubert syndrome 1

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008944 - Joubert syndrome 1

MONDO:0008944 - Joubert syndrome 1

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)