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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.

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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		 RGD
CTD		 PMID:11781417 RGD:734899 NCBI chr27:40,267,681...40,270,061
Ensembl chr27:40,268,235...40,269,671 		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 ClinVar Annotator: match by term: DRD5-related condition ClinVar
OMIM		 PMID:25741868 NCBI chr27:40,267,681...40,270,061
Ensembl chr27:40,268,235...40,269,671 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr27:40,030,051...40,224,069 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr19:15,300,135...15,324,256
Ensembl chr19:15,300,158...15,323,956 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Parkinson disease 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    sensory system disease 6936
      skin disease 4058
        eyelid disease 108
          blepharospasm 4
            Benign Essential Blepharospasm 2
            Parkinson's disease 15 2
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        central nervous system disease 11816
          brain disease 11084
            movement disease 2514
              Dyskinesias 2140
                dystonia 491
                  focal dystonia 12
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
                      Parkinson's disease 15 2
paths to the root