Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 5
go back to main search page
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: ORDO:98808
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
dystonia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
RGD:11554173
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        Neurologic Manifestations 3879
          Dyskinesias 776
            dystonia 125
              dystonia 5 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            movement disease 1064
              Dyskinesias 776
                dystonia 125
                  dystonia 5 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.