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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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO ClinVar Annotator: match by term: DRD5-related condition OMIM
ClinVar
PMID:25741868 NCBI chrNW_004936477:16,860,222...16,863,505
Ensembl chrNW_004936477:16,861,773...16,863,215
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chrNW_004936477:16,700,915...16,836,424
Ensembl chrNW_004936477:16,717,002...16,834,663
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    sensory system disease 6687
      skin disease 3922
        eyelid disease 107
          blepharospasm 4
            Benign Essential Blepharospasm 2
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12611
        central nervous system disease 11273
          brain disease 10581
            movement disease 2426
              Dyskinesias 2070
                dystonia 483
                  focal dystonia 12
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
paths to the root