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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked dystonia-parkinsonism
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Accession:DOID:0090057 term browser browse the term
Definition:A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: DYT3;   Dystonia 3, Torsion, X-Linked;   Lubag;   Lubag Syndrome;   Torsion Dystonia-Parkinsonism, Filipino Type;   X-Linked Dystonia-Parkinsonism Syndrome;   X-Linked Torsion Dystonia-Parkinsonism Syndrome;   XDP
 primary_id: MESH:C564048
 alt_id: OMIM:314250;   RDO:0013141
 xref: GARD:10533;   ORDO:53351
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X-linked dystonia-parkinsonism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          movement disease 1057
            dystonia 126
              focal dystonia 10
                X-linked dystonia-parkinsonism 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            movement disease 1057
              Dyskinesias 766
                dystonia 126
                  focal dystonia 10
                    X-linked dystonia-parkinsonism 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.