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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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show annotations for term's descendants           Sort by:
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 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chrNW_004936487:17,012,661...17,020,657
Ensembl chrNW_004936487:17,011,670...17,020,699 		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: Torsion dystonia 2 OMIM
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chrNW_004936474:15,786,171...15,794,830
Ensembl chrNW_004936474:15,785,879...15,798,740 		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 ClinVar Annotator: match by term: Torsion dystonia 4 OMIM
ClinVar		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940 		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 chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381 		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 chrNW_004936785:503,615...525,361
Ensembl chrNW_004936785:508,848...525,391 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:17,588...28,565
Ensembl chrNW_004936785:18,147...27,409 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:46,076...72,529
Ensembl chrNW_004936785:46,796...72,640 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:319,494...323,226
Ensembl chrNW_004936785:319,494...323,055 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936570:362,655...389,649 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004937108:873...110,949
Ensembl chrNW_004937108:60...110,939 		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 chrNW_004936785:358,128...406,751
Ensembl chrNW_004936785:356,168...406,773 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:324,655...350,496
Ensembl chrNW_004936785:323,941...350,539 		JBrowse link
G Pomk protein O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936570:335,668...354,839
Ensembl chrNW_004936570:331,211...347,631 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:165,612...176,784
Ensembl chrNW_004936785:164,648...176,797 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chrNW_004937108:157,652...162,015
Ensembl chrNW_004937108:157,578...164,564 		JBrowse link
G Vdac3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004936785:294,890...308,245
Ensembl chrNW_004936785:291,341...308,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        neurodegenerative disease 4477
          Nervous System Heredodegenerative Disorders 3071
            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 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                dystonia 414
                  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