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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
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 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        Neurologic Manifestations 5466
          Dyskinesias 1068
            dystonia 190
              Dystonia 28, Childhood-onset 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            movement disease 1401
              Dyskinesias 1068
                dystonia 190
                  Dystonia 28, Childhood-onset 1
paths to the root