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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 16
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Accession:DOID:0090048 term browser browse the term
Definition:A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: DYT16;   OMIM:612067
 primary_id: MESH:C567430
 alt_id: RDO:0015500
 xref: GARD:10539;   ICD10CM:G24.1;   ORDO:210571
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp7 FKBP prolyl isomerase 7 JBrowse link 3 63,522,480 63,535,835 RGD:8554872
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Plekha3 pleckstrin homology domain containing A3 JBrowse link 3 63,536,166 63,557,378 RGD:8554872
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        Neurologic Manifestations 3903
          Dyskinesias 778
            dystonia 125
              multifocal dystonia 6
                dystonia 16 5
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1068
              Dyskinesias 778
                dystonia 125
                  multifocal dystonia 6
                    dystonia 16 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.