Joubert syndrome 1

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

Echinobase 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

MIM:

MIM:213300 - joubert syndrome 1; jbts1

MIM:213300 - joubert syndrome 1; jbts1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Joubert syndrome (is_a)