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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 30
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Accession:DOID:0060937 term browser browse the term
Definition:A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: DYT30;   VPS16-ASSOCIATED DISORDER;   VPS16-RELATED CONDITION
 primary_id: MIM:619291
 alt_id: DOID:9008352


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dystonia 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-related condition ClinVar PMID:25741868 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27174565 PMID:28492532 PMID:32808683 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          Dyskinesias 2234
            dystonia 506
              dystonia 30 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  dystonia 30 2
paths to the root