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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.


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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 IAGP OMIM NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    sensory system disease 5735
      skin disease 2904
        eyelid disease 116
          blepharospasm 3
            Benign Essential Blepharospasm 1
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        central nervous system disease 11499
          brain disease 10682
            movement disease 1317
              Dyskinesias 921
                dystonia 175
                  focal dystonia 19
                    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.