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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 5
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Accession:DOID:0090043 term browser browse the term
Definition:A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (DO)
Synonyms:exact_synonym: DOPA-responsive dystonia;   DOPA-responsive dystonia with or without hyperphenylalaninemia;   DOPA-responsive dystonia, autosomal dominant;   DRD;   DYT5;   Segawa syndrome, autosomal dominant;   dystonia 5, Dopa-responsive type;   dystonia-parkinsonism with diurnal fluctuation;   hereditary progressive dystonia with marked diurnal fluctuation;   progressive dystonia with diurnal variation
 primary_id: MESH:C538007
 alt_id: OMIM:128230
 xref: NCI:C116719;   ORDO:98808
For additional species annotation, visit the Alliance of Genome Resources.



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dystonia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
OMIM
CTD
ClinVar
PMID:1449240 PMID:1530300 PMID:7730309 PMID:8298648 PMID:8852666 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:18554280 PMID:20056467 PMID:24753243 PMID:25741868 PMID:28087438 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          Dyskinesias 1411
            dystonia 275
              dystonia 5 3
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            movement disease 1757
              Dyskinesias 1411
                dystonia 275
                  dystonia 5 3
paths to the root