ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
RGD:11554173
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
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  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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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.