Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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: OMIM:314250
 xref: GARD:10533;   NCI:C126330;   ORDO:53351


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism		 ClinVar
OMIM
CTD		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          movement disease 3274
            dystonia 509
              focal dystonia 11
                X-linked dystonia-parkinsonism 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                dystonia 509
                  focal dystonia 11
                    X-linked dystonia-parkinsonism 1
paths to the root