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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 2B 65,721,439 65,736,351 RGD:9068941
G PJVK pejvakin JBrowse link 2B 65,708,635 65,725,766 RGD:9068941
G PLEKHA3 pleckstrin homology domain containing A3 JBrowse link 2B 65,738,043 65,774,021 RGD:9068941
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 2B 65,689,029 65,708,493 RGD:7240710
G TTN titin JBrowse link 2B 65,783,512 66,064,618 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      nervous system disease 9928
        Neurologic Manifestations 3723
          Dyskinesias 713
            dystonia 117
              multifocal dystonia 6
                dystonia 16 5
Path 2
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      nervous system disease 9928
        central nervous system disease 8329
          brain disease 7669
            movement disease 970
              Dyskinesias 713
                dystonia 117
                  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.