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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:Parkinson's disease 23
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Accession:DOID:0060896 term browser browse the term
Definition:A progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia.
Synonyms:exact_synonym: PARK23;   autosomal recessive early-onset Parkinson disease 23;   autosomal recessive early-onset Parkinson's disease 23
 primary_id: OMIM:616840
 alt_id: RDO:9000368;   RDO:9001987
 xref: ICD10CM:G20
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease 23, autosomal recessive early-onset ClinVar
OMIM
PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Parkinson's disease 23 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Parkinsonian Disorders 337
                Parkinson's disease 255
                  early-onset Parkinson's disease 18
                    Parkinson's disease 23 1
paths to the root