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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:generalized dystonia
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Accession:DOID:0050835 term browser browse the term
Definition:A dystonia that affects most or all of the body. (DO)
Synonyms:exact_synonym: fragments of torsion dystonia;   idiopathic familial dystonia;   idiopathic non-familial dystonia;   symptomatic torsion dystonia
 related_synonym: dystonia 12
 xref: ICD10CM:G24.2;   ICD9CM:333.6;   ICD9CM:333.8;   NCI:C34564;   NCI:C35437;   NCI:C35438;   NCI:C35527
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
generalized dystonia 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: Dystonia 12 ClinVar PMID:2842249, PMID:8255463, PMID:8496742, PMID:8733056, PMID:9109901, PMID:11020638, PMID:11061257, PMID:12112218, PMID:15260953, PMID:15390049, PMID:16632466, PMID:17282997, PMID:17516473, PMID:17595045, PMID:18414213, PMID:19652145, PMID:20558373, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:23681173, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24336169, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26467025, PMID:26633545, PMID:26990090, PMID:26993267, PMID:27091223, PMID:27146299, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28214263, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:30311386 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Neurologic Manifestations 4137
          Dyskinesias 867
            dystonia 161
              generalized dystonia 12
                Dystonia Musculorum Deformans + 10
                torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  generalized dystonia 12
                    Dystonia Musculorum Deformans + 10
                    torsion dystonia with onset in infancy 0
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.