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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;   VPS13C-RELATED CONDITION;   autosomal recessive early-onset Parkinson disease 23;   autosomal recessive early-onset Parkinson's disease 23
 xref: ICD10CM:G20;   MIM:616840;   MONDO:0014796;   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 | ClinVar Annotator: match by term: VPS13C-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 More... NCBI chr 8:77,359,499...77,533,009
Ensembl chr 8:77,359,504...77,531,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                Parkinson's disease 23 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Parkinsonism 459
                Parkinson's disease 376
                  early-onset Parkinson's disease 100
                    Parkinson's disease 23 1
paths to the root