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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: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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
focal dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISS MouseDO NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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 OMIM NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
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 PMID:11781417, PMID:11781417 RGD:734899 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
cervical dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:28649782 NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
dystonia 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Dystonia 23 OMIM
ClinVar
PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
dystonia 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonia 24
ClinVar Annotator: match by OMIM:615034
OMIM
ClinVar
PMID:11009204 PMID:23200863 PMID:25741868 PMID:27666935 PMID:28492532 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
JBrowse link
oculogyric crisis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678 PMID:19038853 PMID:20603184 PMID:23352116 PMID:24112787 PMID:25029497 PMID:25174650 PMID:25741868 PMID:27294386 PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
torsion dystonia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
X-linked dystonia-parkinsonism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
ClinVar Annotator: match by OMIM:314250
OMIM
ClinVar
PMID:17273961 PMID:25741868 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        Neurologic Manifestations 5301
          Dyskinesias 907
            dystonia 184
              focal dystonia 11
                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 1
                oromandibular dystonia 0
                spasmodic dystonia 0
                torsion dystonia 7 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            movement disease 1240
              Dyskinesias 907
                dystonia 184
                  focal dystonia 11
                    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 1
                    oromandibular dystonia 0
                    spasmodic dystonia 0
                    torsion dystonia 7 1
paths to the root