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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 22
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Accession:DOID:0080504 term browser browse the term
Definition:A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)
Synonyms:exact_synonym: PARK22;   Parkinson disease 22, autosomal dominant;   autosomal dominant Parkinson's disease 22
 primary_id: OMIM:616710
 alt_id: RDO:9000403


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Parkinson's disease 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Parkinson's disease 22 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Parkinsonism 452
                Parkinson's disease 371
                  late onset Parkinson's disease 28
                    Parkinson's disease 22 1
paths to the root