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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 IAGP ClinVar Annotator: match by term: Dystonia, early-onset atypical, with myoclonic features
ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant
ClinVar Annotator: match by term: Dystonia 1, torsion, late-onset
ClinVar
OMIM
PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 PMID:19955557 More... NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPCA hippocalcin IAGP ClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive
ClinVar Annotator: match by term: Torsion dystonia 2
ClinVar
OMIM
PMID:6115727 PMID:14694054 PMID:25799108 NCBI chr 1:32,885,965...32,894,646
Ensembl chr 1:32,885,994...32,898,441
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 IAGP ClinVar Annotator: match by term: Autosomal dominant torsion dystonia 4 ClinVar
OMIM
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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 IAGP
EXP
ClinVar Annotator: match by term: Dystonia 6, torsion
ClinVar Annotator: match by term: Torsion dystonia 6
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19182804 PMID:19345147 PMID:19345148 PMID:19908320 PMID:20083799 More... NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      nervous system disease 14840
        neurodegenerative disease 3872
          Nervous System Heredodegenerative Disorders 2456
            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 20257
    disease of anatomical entity 18858
      nervous system disease 14840
        central nervous system disease 13014
          brain disease 12233
            movement disease 1571
              Dyskinesias 1131
                dystonia 205
                  generalized dystonia 6
                    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