Details of Disease

General Information of Disease (ID: DISE0CUW)

Disease Name Joubert syndrome 3
Synonyms Joubert syndrome 3; Joubert syndrome caused by mutation in AHI1; JBTS3; Joubert syndrome type 3; AHI1 Joubert syndrome
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.
Disease Hierarchy
DISDJVUI: Joubert syndrome with ocular defect
DIS7P5CO: Joubert syndrome
DISE0CUW: Joubert syndrome 3
Disease Identifiers
MONDO ID
MONDO_0012078
UMLS CUI
C1837713
OMIM ID
608629
MedGen ID
332931

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
AHI1 OT8K2YWY Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.