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dystonia 32 - 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 32
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Accession:DOID:0060939 term browser browse the term
Definition:A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: DYT32
 broad_synonym: VPS11-RELATED CONDITION
 primary_id: MIM:619637
 alt_id: DOID:9000126

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dystonia 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130006887 ATAC-STARR-seq lymphoblastoid active region 5620 IAGP ClinVar Annotator: match by term: Dystonia 32 ClinVar NCBI chr11:119,067,916...119,067,965 JBrowse link
G N Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624784:14,452,811...14,464,965
Ensembl chrNW_004624784:14,452,817...14,464,965 		JBrowse link
G G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:110,440,681...110,455,092
Ensembl chr 1:110,439,933...110,455,844 		JBrowse link
G P VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474 		JBrowse link
G S Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936542:4,022,928...4,035,577
Ensembl chrNW_004936542:4,023,134...4,035,260 		JBrowse link
G D VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692 		JBrowse link
G B VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
G C Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		JBrowse link
G R Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:53,580,939...53,595,378
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
G M Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
G H VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: VPS11-related condition
ClinVar Annotator: match by term: Dystonia 32		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		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 32 11
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 32 11
paths to the root