Joubert syndrome 23

Summary

DOID:0110992 - Joubert syndrome 23

Disease Ontology Definition:A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.

Synonyms: JBTS23

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

: KIAA0586

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014664 - Joubert syndrome 23

MONDO:0014664 - Joubert syndrome 23

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)