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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;   RDO:0011972
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Diseases of the Aged 1258
      dementia 678
        Lewy body dementia 37
          Parkinson's disease 4 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
            basal ganglia disease 576
              Parkinsonian Disorders 337
                Parkinson's disease 255
                  late onset Parkinson's disease 28
                    Parkinson's disease 4 1
paths to the root