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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 ISO OMIM NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13776
    sensory system disease 5132
      skin disease 2701
        eyelid disease 90
          blepharospasm 2
            Benign Essential Blepharospasm 1
Path 2
Term Annotations click to browse term
  disease 13776
    disease of anatomical entity 13430
      nervous system disease 11162
        central nervous system disease 9772
          brain disease 9179
            movement disease 1253
              Dyskinesias 955
                dystonia 173
                  focal dystonia 10
                    blepharospasm 2
                      Benign Essential Blepharospasm 1
paths to the root