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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.
Mondo Term and Equivalent IDs
MONDO:0014627:  dystonia 27
DOID:0090050: dystonia 27
Orphanet:464440: 
UMLS:C4225336: