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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
 related_synonym: DRD5-RELATED CONDITION
 primary_id: MESH:C535428;   RDO:0000534
 alt_id: MIM:606798


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Benign Essential Blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 susceptibility ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar
OMIM
PMID:25741868 NCBI chrNW_004955514:5,450,495...5,452,282 JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chrNW_004955514:5,479,585...5,625,328
Ensembl chrNW_004955514:5,479,585...5,625,223
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    sensory system disease 6559
      skin disease 3840
        eyelid disease 105
          blepharospasm 4
            Benign Essential Blepharospasm 2
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        central nervous system disease 11072
          brain disease 10390
            movement disease 2391
              Dyskinesias 2042
                dystonia 476
                  focal dystonia 12
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
paths to the root