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Standards Ontologies Notations
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
Disease Ontology
DOID:0060730
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1861 TOR1A torsin family 1 member A
27348 TOR1B torsin family 1 member B
27433 TOR2A torsin family 2 member A
64222 TOR3A torsin family 3 member A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
30931 Tor1a torsin family 1, member A (torsin A)
30934 Tor1b torsin family 1, member B
30935 Tor3a torsin family 3, member A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
266606 Tor1a torsin family 1, member A
304884 Tor3a torsin family 3, member A
362112 Tor2a torsin family 2, member A
Displaying 1 entry
Gene ID Gene Symbol Description Source
31399 Torsin torsin
Displaying 1 entry
Gene ID Gene Symbol Description Source
174433 ooc-5 Torsin-like protein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 33 in total
HPO ID HPO Term
HP:0003487 Babinski sign
HP:0001270 Motor delay
HP:0007325 Generalized dystonia
HP:0001347 Hyperreflexia
HP:0000643 Blepharospasm
HP:0002828 Multiple joint contractures
HP:0012048 Oromandibular dystonia
HP:0002650 Scoliosis
HP:0001304 Torsion dystonia
HP:0003623 Neonatal onset
Displaying 1 entry
Gene ID Gene Symbol Description
1861 TOR1A torsin family 1 member A
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024