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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:blepharospasm
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Accession:DOID:529 term browser browse the term
Definition:A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (DO)
Synonyms:exact_synonym: blepharospasms
 primary_id: MESH:D001764
 xref: GARD:5909;   ICD10CM:G24.5;   ICD9CM:333.81;   NCI:C118723
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO DNA:repeat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11781417 PMID:11781417 RGD:734899 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
Benign Essential Blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        eyelid disease 103
          blepharospasm 2
            Benign Essential Blepharospasm 1
            Parkinson's disease 15 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  focal dystonia 11
                    blepharospasm 2
                      Benign Essential Blepharospasm 1
                      Parkinson's disease 15 1
paths to the root