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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:Juvenile-Onset Dystonia
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Accession:DOID:9006985 term browser browse the term
Synonyms:exact_synonym: DJO
 broad_synonym: ACTB-RELATED BAFOPATHY
 primary_id: MESH:C537704
 alt_id: MIM:607371;   RDO:0003589


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Juvenile-Onset Dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile-onset dystonia		 OMIM
CTD
ClinVar		 PMID:9714430 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 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 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          Dyskinesias 2228
            dystonia 503
              Juvenile-Onset Dystonia 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2626
              Dyskinesias 2228
                dystonia 503
                  Juvenile-Onset Dystonia 1
paths to the root