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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:torsion dystonia 1
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Accession:DOID:0060730 term browser browse the term
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. (DO)
Synonyms:exact_synonym: DYT1;   EOTD;   Early onset torsion dystonia;   Early-Onset Generalized Torsion Dystonia;   Early-Onset Primary Dystonia;   Oppenheim Dystonia;   Oppenheim's dystonia;   dystonia musculorum deformans 1;   dystonia musculorum deformans type 1;   primary torsion dystonia;   torsion dystonia 1, autosomal dominant
 narrow_synonym: DYSTONIA 1, TORSION, LATE-ONSET;   DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES
 primary_id: MESH:C538005
 alt_id: OMIM:128100;   RDO:0003934
 xref: NCI:C118780
For additional species annotation, visit the Alliance of Genome Resources.


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torsion dystonia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Primary torsion dystonia ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Primary torsion dystonia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Dystonia, early-onset atypical, with myoclonic features
ClinVar Annotator: match by term: Dystonia 1, torsion, late-onset
ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant
OMIM
ClinVar
PMID:11523564, PMID:12391338, PMID:12391355, PMID:12402271, PMID:19955557, PMID:24033266, PMID:24930953, PMID:24931141, PMID:25741868, PMID:27168150, PMID:28492532 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          Nervous System Heredodegenerative Disorders 1950
            Dystonia Musculorum Deformans 10
              torsion dystonia 1 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  generalized dystonia 12
                    Dystonia Musculorum Deformans 10
                      torsion dystonia 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.