Details of Disease

General Information of Disease (ID: DISH6KEJ)

Disease Name Isolated dystonia
Synonyms Pure dystonia; nonsyndromic dystonia (disease); isolated dystonic disorder; nonsyndromic dystonic disorder
Definition A dystonia (disease) that is not part of a larger syndrome.
Disease Hierarchy
DISEIJV9: Inherited dystonia
DISJLFGW: Dystonia
DISH6KEJ: Isolated dystonia
Disease Identifiers
MONDO ID
MONDO_0015494
UMLS CUI
C5679608
MedGen ID
1842310
Orphanet ID
156159

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
VPS16 OTLWUS3T Limited 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.