Term:dystonia 5
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Accession:DOID:0090043 term browser browse the term
Definition:A dystonia characterized by autosomal dominant inheritance of 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 heterozygous mutation in the GCH1 gene on chromosome 14q13. (DO)
Synonyms:exact_synonym: DRD;   DYT5;   Dopa-responsive dystonia, autosomal dominant;   Dystonia, Dopa-responsive;   Dystonia, progressive, with diurnal variation;   Dystonia-Parkinsonism with diurnal fluctuation;   Segawa syndrome, autosomal dominant;   dystonia 5, Dopa-responsive type;   hereditary progressive dystonia with marked diurnal fluctuation
 primary_id: MESH:C538007
 alt_id: OMIM:128230;   RDO:0003936
 xref: ORDO:98808
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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
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          dystonia 5 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            movement disease 1006
              Dyskinesias 718
                dystonia 80
                  dystonia 5 2
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