Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Juvenile-Onset Dystonia
go back to main search page
Accession:DOID:9006985 term browser browse the term
Synonyms:exact_synonym: DJO
 broad_synonym: ACTB-RELATED BAFOPATHY
 primary_id: MESH:C537704
 alt_id: OMIM:607371;   RDO:0003589
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Juvenile-Onset Dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Juvenile-onset dystonia OMIM
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25741868 PMID:28492532 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        Neurologic Manifestations 5446
          Dyskinesias 1043
            dystonia 187
              Juvenile-Onset Dystonia 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            movement disease 1375
              Dyskinesias 1043
                dystonia 187
                  Juvenile-Onset Dystonia 1
paths to the root