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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:multifocal dystonia
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Accession:DOID:0050837 term browser browse the term
Definition:A dystonia that involves two or more unrelated body parts. (DO)
Synonyms:primary_id: RDO:9002844


show annotations for term's descendants           Sort by:
dystonia 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,609,384...61,623,710
Ensembl chr 3:61,608,557...61,623,280 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:28492532 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
dystonia 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dystonia 25 OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:25741868 More... NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          Dyskinesias 2211
            dystonia 435
              multifocal dystonia 6
                dystonia 16 5
                dystonia 25 1
                hemidystonia 0
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                dystonia 435
                  multifocal dystonia 6
                    dystonia 16 5
                    dystonia 25 1
                    hemidystonia 0
paths to the root