Details of Disease

General Information of Disease (ID: DISGO990)

Disease Name Joubert syndrome 33
Synonyms JBTS33; Joubert syndrome 33
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISGO990: Joubert syndrome 33
Disease Identifiers
MONDO ID
MONDO_0033311
UMLS CUI
C4540389
OMIM ID
617767
MedGen ID
1615779

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
PIBF1 OTCBT1A1 Definitive Autosomal recessive [1]
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References

1 An siRNA-based functional genomics screen for the?identification of regulators of ciliogenesis and ciliopathy?genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.