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dystonia 24
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.
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:0090052
EFO:0009040
OMIM:615034
Orphanet:420485
UMLS:C3554374
MONDO:0014019
High level summary of knowledge for a disease, including descriptions and datasource references.