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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

OMIM:128100

ORDO:256

Subsets

DO_rare_slim

Synonyms

dystonia musculorum deformans [EXACT]

Parent Relationships

is_a generalized dystonia

is_a autosomal dominant disease

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