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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
 primary_id: OMIM: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 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 OMIM
ClinVar		 PMID:25741868 PMID:27174565 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 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        Neurologic Manifestations 10043
          Dyskinesias 2190
            dystonia 435
              dystonia 30 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                dystonia 435
                  dystonia 30 2
paths to the root