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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:dystonia 22, adult-onset
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Accession:DOID:0060967 term browser browse the term
Definition:A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO)
Synonyms:exact_synonym: DYT22AO
 primary_id: OMIM:620456
 alt_id: DOID:9004025


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dystonia 22, adult-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:33539324 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          Dyskinesias 2196
            dystonia 435
              dystonia 22, adult-onset 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                dystonia 435
                  dystonia 22, adult-onset 1
paths to the root