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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:Dystonia Musculorum Deformans
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Accession:DOID:9008057 term browser browse the term
Definition:A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
Synonyms:exact_synonym: Dystonias, Torsion;   Idiopathic Torsion Dystonia;   Oppenheim Ziehen Disease;   childhood torsion disease;   dystonia deformans progressiva;   idiopathic torsion dystonias;   progressive torsion spasm;   torsion disease of childhood;   torsion dystonia
 primary_id: MESH:D004422
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 OMIM NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPCA hippocalcin ISO OMIM NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB4A tubulin beta 4A class IVa ISO OMIM NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THAP1 THAP domain containing 1 ISO OMIM NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      nervous system disease 11158
        neurodegenerative disease 3284
          Nervous System Heredodegenerative Disorders 2072
            Dystonia Musculorum Deformans 4
              myoclonic dystonia 15 0
              torsion dystonia 1 1
              torsion dystonia 13 0
              torsion dystonia 2 1
              torsion dystonia 4 1
              torsion dystonia 6 1
Path 2
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      nervous system disease 11158
        central nervous system disease 9762
          brain disease 9173
            movement disease 1293
              Dyskinesias 988
                dystonia 181
                  generalized dystonia 5
                    Dystonia Musculorum Deformans 4
                      myoclonic dystonia 15 0
                      torsion dystonia 1 1
                      torsion dystonia 13 0
                      torsion dystonia 2 1
                      torsion dystonia 4 1
                      torsion dystonia 6 1
paths to the root