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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.


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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
PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 PMID:15390049 PMID:16632466 PMID:17282997 PMID:17516473 PMID:17576681 PMID:17595045 PMID:18414213 PMID:19652145 PMID:20558373 PMID:20576601 PMID:21911500 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:23681173 PMID:24088041 PMID:24100174 PMID:24336169 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25359261 PMID:25447930 PMID:25523819 PMID:25624492 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26990090 PMID:26993267 PMID:27146299 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28214263 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28849312 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30657467 PMID:32581362 PMID:32963807, PMID:25359261 RGD:11055714 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        Neurologic Manifestations 5298
          Dyskinesias 906
            dystonia 183
              dystonia 12 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            movement disease 1237
              Dyskinesias 906
                dystonia 183
                  dystonia 12 2
paths to the root