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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


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Dystonia Musculorum Deformans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:14,250,667...14,257,704 JBrowse link
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		 ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion
OMIM:128100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 3:14,250,667...14,257,704 JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO ClinVar Annotator: match by term: HPCA-related condition | ClinVar Annotator: match by term: Torsion dystonia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6115727 PMID:14694054 PMID:25741868 PMID:25799108 PMID:28492532 NCBI chr 5:141,455,616...141,466,252 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TUBB4A-related condition | ClinVar Annotator: match by term: Torsion dystonia 4		 OMIM
CTD
ClinVar		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chr 9:1,917,841...1,925,286 JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:68,876,294...69,054,963 JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372 JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441 JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360 JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580 JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444 JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:72,656,929...72,751,696 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:76,021,968...76,075,717 JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923 JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:75,943,061...76,022,037 JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:72,788,842...72,801,122 JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092 JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418 JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323 JBrowse link
G Thap1 THAP domain containing 1 ISO
ISS		 ClinVar Annotator: match by term: Torsion dystonia 6
OMIM:602629
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr16:65,905,348...65,909,942 JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        neurodegenerative disease 5064
          Nervous System Heredodegenerative Disorders 3355
            Dystonia Musculorum Deformans 21
              myoclonic dystonia 15 0
              torsion dystonia 1 1
              torsion dystonia 13 0
              torsion dystonia 2 1
              torsion dystonia 4 1
              torsion dystonia 6 18
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  generalized dystonia 25
                    Dystonia Musculorum Deformans 21
                      myoclonic dystonia 15 0
                      torsion dystonia 1 1
                      torsion dystonia 13 0
                      torsion dystonia 2 1
                      torsion dystonia 4 1
                      torsion dystonia 6 18
paths to the root