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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C126330;   ORDO:53351
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked dystonia-parkinsonism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by OMIM:314250 OMIM
ClinVar
PMID:17273961 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          movement disease 1158
            dystonia 161
              focal dystonia 19
                X-linked dystonia-parkinsonism 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Dyskinesias 869
                dystonia 161
                  focal dystonia 19
                    X-linked dystonia-parkinsonism 1
paths to the root

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