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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;   TASK-SPECIFIC MOVEMENT DISORDER;   rapid-onset dystonia-parkinsonism
 primary_id: MESH:C538001
 alt_id: MIM:128235
 xref: MONDO:0007496;   NCI:C157577;   ORDO:71517


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 CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:p.S148del, c.443_445delGAG (human)
ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism		 OMIM
CTD
ClinVar
RGD		 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 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
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          Dyskinesias 2234
            dystonia 506
              dystonia 12 3
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  dystonia 12 3
paths to the root