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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:Benign Essential Blepharospasm
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Accession:DOID:9002584 term browser browse the term
Synonyms:exact_synonym: Essential Blepharospasm;   Eyelid Twitching;   Primary Blepharospasm;   Spasm of Eyelids
 primary_id: MESH:C535428;   RDO:0000534
 alt_id: OMIM:606798
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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Benign Essential Blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO OMIM NCBI chrNW_004955514:5,450,495...5,452,282 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    sensory system disease 4570
      skin disease 2382
        eyelid disease 105
          blepharospasm 3
            Benign Essential Blepharospasm 1
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        central nervous system disease 7910
          brain disease 7316
            movement disease 1025
              Dyskinesias 785
                dystonia 147
                  focal dystonia 16
                    blepharospasm 3
                      Benign Essential Blepharospasm 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.