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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



show annotations for term's descendants           Sort by:
Benign Essential Blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD5 dopamine receptor D5 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DRD5-related condition
CTD
OMIM
ClinVar
PMID:25741868 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    sensory system disease 24590
      skin disease 12818
        eyelid disease 146
          blepharospasm 4
            Benign Essential Blepharospasm 2
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      nervous system disease 58665
        central nervous system disease 40433
          brain disease 37911
            movement disease 4123
              Dyskinesias 2882
                dystonia 584
                  focal dystonia 13
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
paths to the root