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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;   Lubag;   Lubag Syndrome;   Torsion Dystonia-Parkinsonism, Filipino Type;   X-Linked Dystonia-Parkinsonism Syndrome;   X-linked torsion dystonia 3;   X-linked torsion dystonia-parkinsonism syndrome;   XDP
 broad_synonym: TAF1-RELATED CONDITION
 primary_id: MESH:C564048
 alt_id: MIM:314250
 xref: GARD:10533;   NCI:C126330;   ORDO:53351


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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 term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          movement disease 2633
            dystonia 506
              focal dystonia 13
                X-linked dystonia-parkinsonism 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  focal dystonia 13
                    X-linked dystonia-parkinsonism 1
paths to the root