Details of Disease

General Information of Disease (ID: DISYSPXV)

Disease Name Joubert syndrome 6
Synonyms JBTS6; TMEM67 Joubert syndrome; Joubert syndrome type 6; Joubert syndrome caused by mutation in TMEM67; Joubert syndrome 6
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISYSPXV: Joubert syndrome 6
Disease Identifiers
MONDO ID
MONDO_0012539
UMLS CUI
C1853153
OMIM ID
610688
MedGen ID
342805

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
TMEM67 OTME92T5 Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.