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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:An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: PARK23;   autosomal recessive early-onset Parkinson disease 23;   autosomal recessive early-onset Parkinson's disease 23
 primary_id: OMIM:616840
 xref: ICD10CM:G20;   NCI:C203536


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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: Autosomal recessive early-onset Parkinson disease 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal recessive disease 6585
                Parkinson's disease 23 1
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
              Parkinsonism 453
                Parkinson's disease 372
                  early-onset Parkinson's disease 100
                    Parkinson's disease 23 1
paths to the root