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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 Primary Dystonia;   Oppenheim dystonia;   Oppenheim's dystonia;   dystonia musculorum deformans 1;   dystonia musculorum deformans type 1;   early-onset generalized torsion dystonia;   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
 xref: NCI:C118780


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:128100
ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion		 OMIM
CTD
MouseDO
ClinVar		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          Nervous System Heredodegenerative Disorders 3254
            Dystonia Musculorum Deformans 21
              torsion dystonia 1 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  generalized dystonia 25
                    Dystonia Musculorum Deformans 21
                      torsion dystonia 1 1
paths to the root