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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.


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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 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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 OMIM NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPCA hippocalcin ISO OMIM NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
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 OMIM NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
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 OMIM NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      nervous system disease 11158
        Neurologic Manifestations 5207
          Dyskinesias 988
            dystonia 181
              generalized dystonia 5
                Dystonia Musculorum Deformans + 4
                torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      nervous system disease 11158
        central nervous system disease 9762
          brain disease 9173
            movement disease 1293
              Dyskinesias 988
                dystonia 181
                  generalized dystonia 5
                    Dystonia Musculorum Deformans + 4
                    torsion dystonia with onset in infancy 0
paths to the root