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dystonia 23
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090051
OMIM:614860
Orphanet:420492
UMLS:C3538999
MONDO:0013928
High level summary of knowledge for a disease, including descriptions and datasource references.