Details of Disease

General Information of Disease (ID: DIS9O1SL)

Disease Name Joubert syndrome 8
Synonyms JBTS8; Joubert syndrome 8; ARL13B Joubert syndrome; Joubert syndrome caused by mutation in ARL13B; Joubert syndrome type 8
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DIS9O1SL: Joubert syndrome 8
Disease Identifiers
MONDO ID
MONDO_0012855
MESH ID
C567358
UMLS CUI
C2676771
OMIM ID
612291
MedGen ID
436772

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARL13B OT9PYPV1 Definitive Autosomal recessive [1]
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References

1 Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20.