Details of Disease

General Information of Disease (ID: DISXS29L)

Disease Name Joubert syndrome 20
Synonyms TMEM231 Joubert syndrome; Joubert syndrome caused by mutation in TMEM231; JBTS20; Joubert syndrome 20; Joubert syndrome type 20
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
Disease Hierarchy
DISDJVUI: Joubert syndrome with ocular defect
DIS7P5CO: Joubert syndrome
DISXS29L: Joubert syndrome 20
Disease Identifiers
MONDO ID
MONDO_0013994
UMLS CUI
C3554235
OMIM ID
614970
MedGen ID
767149

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
TMEM231 OTF4UYIE Definitive Autosomal recessive [1]
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References

1 Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.