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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:5996915 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 PMID:15390049 PMID:16632466 PMID:17282997 PMID:17516473 PMID:17576681 PMID:17595045 PMID:18414213 PMID:19652145 PMID:19936820 PMID:20558373 PMID:20576601 PMID:21911500 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:23681173 PMID:24088041 PMID:24100174 PMID:24336169 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25359261 PMID:25447930 PMID:25523819 PMID:25624492 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26990090 PMID:26993267 PMID:27146299 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28214263 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30657467 PMID:32581362 PMID:32963807 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
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 3:9,800,322...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 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 Annotator: match by term: Torsion dystonia 2
ClinVar
OMIM
PMID:6115727 PMID:14694054 PMID:25677497 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:26643067 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:19182804 PMID:19345147 PMID:19345148 PMID:19908320 PMID:20083799 PMID:20211909 PMID:20669277 PMID:20687191 PMID:20865765 PMID:21495072 PMID:21520283 PMID:21782490 PMID:21839475 PMID:21847143 PMID:22377579 PMID:22844099 PMID:22903657 PMID:23036512 PMID:24500857 PMID:24936516 PMID:24976531 PMID:25088175 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 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        Neurologic Manifestations 5429
          Dyskinesias 1023
            dystonia 188
              generalized dystonia 6
                Dystonia Musculorum Deformans + 4
                torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        central nervous system disease 10373
          brain disease 9729
            movement disease 1357
              Dyskinesias 1023
                dystonia 188
                  generalized dystonia 6
                    Dystonia Musculorum Deformans + 4
                    torsion dystonia with onset in infancy 0
paths to the root