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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 4
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Accession:DOID:0060895 term browser browse the term
Definition:A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: PARK4;   autosomal dominant Lewy body Parkinson disease 4;   autosomal dominant Lewy body Parkinson's disease 4;   autosomal dominant Parkinson disease 4;   autosomal dominant Parkinson's disease 4
 primary_id: MESH:C565324
 alt_id: OMIM:605543
 xref: NCI:C198604


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Parkinson's disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Diseases of the Aged 1467
      dementia 873
        Lewy body dementia 40
          Parkinson's disease 4 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 4 1
paths to the root