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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:dystonia 12
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Accession:DOID:0090056 term browser browse the term
Definition:A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (DO)
Synonyms:exact_synonym: DYT12;   RDP;   rapid-onset dystonia-parkinsonism
 primary_id: MESH:C538001
 alt_id: OMIM:128235
 xref: NCI:C157577;   ORDO:71517
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dystonia 12 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: Dystonia 12
ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism
DNA:deletion:exon:p.S148del, c.443_445delGAG (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:128235
OMIM
ClinVar
CTD
RGD
PMID:5996915 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 More... RGD:11055714 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        Neurologic Manifestations 5479
          Dyskinesias 1073
            dystonia 190
              dystonia 12 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                dystonia 190
                  dystonia 12 2
paths to the root