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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 ClinVar Annotator: match by OMIM:128230
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia, dopa-responsive
ClinVar Annotator: match by term: DYSTONIA, DOPA-RESPONSIVE
ClinVar Annotator: match by term: Dystonia 5, Dopa-responsive type
ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant
OMIM
ClinVar
CTD
PMID:1530300 PMID:7730309 PMID:8619546 PMID:8852666 PMID:9328244 PMID:9566388 PMID:9576537 PMID:9667588 PMID:9749603 PMID:9778264 PMID:10078749 PMID:10208576 PMID:10457396 PMID:10496263 PMID:10732814 PMID:10825351 PMID:10984668 PMID:10984670 PMID:11026444 PMID:11113234 PMID:11359069 PMID:11486899 PMID:12391354 PMID:12473771 PMID:12707079 PMID:12874420 PMID:15303002 PMID:15389992 PMID:15753436 PMID:16917893 PMID:17044972 PMID:17101830 PMID:17111153 PMID:17898029 PMID:18044725 PMID:19332422 PMID:19491146 PMID:20082337 PMID:20108370 PMID:20187889 PMID:20491893 PMID:20818608 PMID:20842687 PMID:22373569 PMID:23211702 PMID:23430498 PMID:23762320 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25181484 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26400349 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27313105 PMID:27619486 PMID:27666935 PMID:28492532 PMID:28582483 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dystonia, dopa-responsive ClinVar NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Neurologic Manifestations 4136
          Dyskinesias 797
            dystonia 132
              dystonia 5 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                dystonia 132
                  dystonia 5 2
paths to the root