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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 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 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          Nervous System Heredodegenerative Disorders 2118
            Dystonia Musculorum Deformans 4
              torsion dystonia 1 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            movement disease 1375
              Dyskinesias 1043
                dystonia 187
                  generalized dystonia 6
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 1 1
paths to the root