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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 28, CHILDHOOD-ONSET
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Accession:DOID:9004049 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. (OMIM)
Synonyms:exact_synonym: DYT28
 primary_id: OMIM:617284
 alt_id: RDO:9001437
For additional species annotation, visit the Alliance of Genome Resources.


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DYSTONIA 28, CHILDHOOD-ONSET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: DYSTONIA 28, CHILDHOOD-ONSET
ClinVar Annotator: match by term: Dystonia 28, childhood-onset
ClinVar
OMIM
PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28520167 More... NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        Neurologic Manifestations 5444
          Dyskinesias 1043
            dystonia 187
              DYSTONIA 28, CHILDHOOD-ONSET 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            movement disease 1375
              Dyskinesias 1043
                dystonia 187
                  DYSTONIA 28, CHILDHOOD-ONSET 1
paths to the root