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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
ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
OMIM
ClinVar
PMID:17273961 PMID:25741868 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          movement disease 1237
            dystonia 183
              focal dystonia 11
                X-linked dystonia-parkinsonism 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            movement disease 1237
              Dyskinesias 906
                dystonia 183
                  focal dystonia 11
                    X-linked dystonia-parkinsonism 1
paths to the root