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dystonia 22, adult-onset - Ontology Report - Rat Genome Database

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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: MIM: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 N Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chrNW_004624871:139,513...165,564
Ensembl chrNW_004624871:140,612...165,411 		JBrowse link
G G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr16:35,071,519...35,099,174
Ensembl chr16:35,072,385...35,096,057 		JBrowse link
G P TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr12:34,578,698...34,606,623
Ensembl chr12:34,578,704...34,605,888 		JBrowse link
G S Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chrNW_004936490:4,766,564...4,793,174
Ensembl chrNW_004936490:4,766,521...4,793,361 		JBrowse link
G D TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr 9:32,949,912...32,972,830
Ensembl chr 9:32,950,906...32,973,982 		JBrowse link
G B TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		JBrowse link
G C Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chrNW_004955451:4,707,440...4,733,179
Ensembl chrNW_004955451:4,707,458...4,730,257 		JBrowse link
G R Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
G M Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr11:87,649,022...87,676,754
Ensembl chr11:87,651,367...87,676,754 		JBrowse link
G H TSPOAP1 TSPO associated protein 1 IAGP ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          Dyskinesias 22111
            dystonia 4977
              dystonia 22, adult-onset 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            movement disease 27194
              Dyskinesias 22111
                dystonia 4977
                  dystonia 22, adult-onset 10
paths to the root