torsion dystonia 1

Summary

DOID:0060730 - torsion dystonia 1

Disease Ontology 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.

Synonyms: dystonia musculorum deformans,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tor1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007492 - early-onset generalized limb-onset dystonia

MONDO:0007492 - early-onset generalized limb-onset dystonia

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), generalized dystonia (is_a)