Joubert syndrome 3

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary

Literature (0)

DOID:0110998 - Joubert syndrome 3

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.

Synonyms: JBTS3

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

: ahi1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012078 - Joubert syndrome 3

MONDO:0012078 - Joubert syndrome 3

MIM:

MIM:608629 - JOUBERT SYNDROME 3; JBTS3

MIM:608629 - JOUBERT SYNDROME 3; JBTS3

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)