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Metadata
ID	DOID:0060730
Name	torsion dystonia 1
Definition	A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/11912106, https://www.ncbi.nlm.nih.gov/pubmed/9288096
Xrefs	ICD10CM:G24.1 MIM:128100 ORDO:256
Subsets	DO_rare_slim
Synonyms	dystonia musculorum deformans [EXACT]
Parent Relationships	is_a generalized dystonia is_a autosomal dominant disease