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torsion dystonia 1

Summary

Synonym

dystonia musculorum deformans

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.

Super Class

autosomal dominant disease generalized dystonia

External Links

Disease Ontology

DOID:0060730

ORDO

256

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
1861	TOR1A	torsin family 1 member A	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
30931	Tor1a	torsin family 1, member A (torsin A)	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
174433	ooc-5	Torsin-like protein	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
O14656	Torsin-1A	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q9ER39	Torsin-1A	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q95NU5	Torsin-like protein	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 33 in total

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HPO ID	HPO Term
HP:0001288	Gait disturbance
HP:0003011	Abnormality of the musculature
HP:0001276	Hypertonia
HP:0100022	Abnormality of movement
HP:0001608	Abnormality of the voice
HP:0002533	Abnormal posturing
HP:0001272	Cerebellar atrophy
HP:0003596	Middle age onset
HP:0000716	Depression
HP:0002828	Multiple joint contractures