Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO MouseDO NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		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 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 chr 9:100,940,554...100,951,726 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 chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524 		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 chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785 		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 chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549 		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 chr 8:41,397,123...41,415,379
Ensembl chr 8:38,842,811...38,861,030 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,000,748...42,016,913
Ensembl chr 8:39,444,447...39,460,569 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,947,062...41,987,159
Ensembl chr 8:39,391,001...39,429,926 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,618,173...41,638,550
Ensembl chr 8:39,062,711...39,082,575 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,388,406...42,448,466 JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043 		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 chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G POLB DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464 		JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456 		JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,785,396...41,799,520
Ensembl chr 8:39,229,944...39,241,096 		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 chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207 		JBrowse link
G VDAC3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,638,522...41,652,637
Ensembl chr 8:39,082,698...39,097,437 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          Dyskinesias 2132
            dystonia 422
              generalized dystonia 25
                Dystonia Musculorum Deformans + 21
                torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            movement disease 2498
              Dyskinesias 2132
                dystonia 422
                  generalized dystonia 25
                    Dystonia Musculorum Deformans + 21
                    torsion dystonia with onset in infancy 0
paths to the root