Details of Disease

General Information of Disease (ID: DIS7K1LK)

Disease Name Joubert syndrome 16
Synonyms Joubert syndrome 16; Joubert syndrome caused by mutation in TMEM138; JBTS16; Joubert syndrome type 16; TMEM138 Joubert syndrome
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISU0IPO: Joubert syndrome with oculorenal defect
DIS7K1LK: Joubert syndrome 16
Disease Identifiers
MONDO ID
MONDO_0013764
UMLS CUI
C3280906
OMIM ID
614465
MedGen ID
482536

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
TMEM138 OTNF4CR7 Strong Autosomal recessive [1]
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References

1 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012 Feb 24;335(6071):966-9. doi: 10.1126/science.1213506. Epub 2012 Jan 26.