ONTOLOGY REPORT - ANNOTATIONS


Term:focal dystonia
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Accession:DOID:0050836 term browser browse the term
Definition:A dystonia that is localized to a specific part of the body. (DO)
Synonyms:exact_synonym: FTSD;   Musician's Dystonia;   Occupational Cramp;   Occupational Dystonia;   focal dystonia, task-specific;   focal dystonias;   task-specific dystonia
 primary_id: MESH:C566973
 alt_id: RDO:0015168
 xref: GARD:6458
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focal dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:13592920
autosomal recessive early-onset Parkinson's disease 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo7 F-box protein 7 JBrowse link 7 23,815,246 23,843,505 RGD:7240710
RGD:8554872
RGD:11554173
Benign Essential Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:7240710
blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:734899
RGD:11554173
cervical dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147570
dystonia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:7240710
RGD:8554872
dystonia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:7240710
RGD:8554872
torsion dystonia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:11554173
X-linked dystonia-parkinsonism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        Neurologic Manifestations 3384
          Dyskinesias 718
            dystonia 80
              focal dystonia 10
                X-linked dystonia-parkinsonism 1
                anismus 0
                blepharospasm + 2
                cervical dystonia + 4
                cranio-facial dystonia + 0
                dystonia 23 1
                dystonia 24 1
                focal hand dystonia 0
                oculogyric crisis 0
                oromandibular dystonia 0
                spasmodic dystonia 0
                torsion dystonia 7 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                dystonia 80
                  focal dystonia 10
                    X-linked dystonia-parkinsonism 1
                    anismus 0
                    blepharospasm + 2
                    cervical dystonia + 4
                    cranio-facial dystonia + 0
                    dystonia 23 1
                    dystonia 24 1
                    focal hand dystonia 0
                    oculogyric crisis 0
                    oromandibular dystonia 0
                    spasmodic dystonia 0
                    torsion dystonia 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.