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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
 xref: ICD10CM:G24.2;   ICD9CM:333.6;   ICD9CM:333.8;   MONDO:0000476;   NCI:C34564;   NCI:C35437;   NCI:C35438;   NCI:C35527


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:5996915 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 More... NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
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
Ensembl chr 3:34,648,422...34,655,417 		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
Ensembl chr 3:34,648,422...34,655,417 		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 5:146,739,978...146,750,961
Ensembl chr 5:146,739,978...146,749,983 		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 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		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 chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		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
Ensembl chr16:75,920,084...75,937,923 		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
Ensembl chr16:71,400,615...71,407,315 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:76,105,679...76,109,044
Ensembl chr16:76,105,679...76,109,044 		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
Ensembl chr16:72,767,627...72,788,229 		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
Ensembl chr16:72,807,849...72,840,176 		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
Ensembl chr16:72,657,019...72,764,071 		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
Ensembl chr16:76,022,008...76,081,911 		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
Ensembl chr16:75,787,411...75,866,099 		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
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:76,081,903...76,105,174
Ensembl chr16:76,081,864...76,108,180 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:72,794,831...72,801,103 		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
Ensembl chr16:72,631,638...72,656,469 		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
Ensembl chr16:76,162,922...76,253,881 		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
Ensembl chr16:76,253,443...76,267,911 		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
Ensembl chr16:72,607,305...72,612,690 		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
Ensembl chr16:76,137,504...76,155,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          Dyskinesias 2229
            dystonia 501
              generalized dystonia 25
                Dystonia Musculorum Deformans + 21
                torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                dystonia 501
                  generalized dystonia 25
                    Dystonia Musculorum Deformans + 21
                    torsion dystonia with onset in infancy 0
paths to the root