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dystonia 27
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and 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:0090050
OMIM:616411
Orphanet:464440
UMLS:C4225336
MONDO:0014627
High level summary of knowledge for a disease, including descriptions and datasource references.