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Disease Ontology Browser
torsion dystonia 1 (DOID:0060730)
Alliance: disease page
Synonyms: dystonia musculorum deformans
Alt IDs: OMIM:128100, ICD10CM:G24.1, ORDO:256
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.

Disease References using Mouse Models (10)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory