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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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Dystonia Musculorum Deformans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:10984309, PMID:25741868, PMID:30311386 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Primary torsion dystonia ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Primary torsion dystonia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
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, late-onset
ClinVar Annotator: match by term: Dystonia, early-onset atypical, with myoclonic features
OMIM
ClinVar
PMID:11523564, PMID:12391338, PMID:12391355, PMID:12402271, PMID:19955557, PMID:24033266, PMID:24930953, PMID:24931141, PMID:25741868, PMID:27168150, PMID:28492532 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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: Dystonia 2, torsion, autosomal recessive ClinVar
OMIM
PMID:6115727, PMID:14694054, PMID:25799108 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
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: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966, PMID:3405308, PMID:7983175, PMID:16707859, PMID:18466252, PMID:18851904, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24526230, PMID:24706558, PMID:24785942, PMID:24850488, PMID:25085639, PMID:25326635, PMID:25545912, PMID:25741868, PMID:28492532, PMID:28973395, PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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 ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar Annotator: match by term: Dystonia 6, torsion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602629
OMIM
ClinVar
CTD
PMID:9382482, PMID:17702011, PMID:19182804, PMID:19345147, PMID:19345148, PMID:19908320, PMID:20083799, PMID:20211909, PMID:20669277, PMID:20687191, PMID:20865765, PMID:21425335, PMID:21495072, PMID:21520283, PMID:21782490, PMID:21839475, PMID:21847143, PMID:22377579, PMID:22844099, PMID:22903657, PMID:23036512, PMID:24936516, PMID:24976531, PMID:25088175, PMID:25168324, PMID:25741868, PMID:26087139, PMID:26467025, PMID:26486352, PMID:26610312, PMID:27123488, PMID:28492532, PMID:28697333, PMID:29520331 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        neurodegenerative disease 3191
          Nervous System Heredodegenerative Disorders 1950
            Dystonia Musculorum Deformans 10
              myoclonic dystonia 15 0
              torsion dystonia 1 3
              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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  generalized dystonia 12
                    Dystonia Musculorum Deformans 10
                      myoclonic dystonia 15 0
                      torsion dystonia 1 3
                      torsion dystonia 13 0
                      torsion dystonia 2 1
                      torsion dystonia 4 1
                      torsion dystonia 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.