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Parkinson's disease 4 - Ontology Report - Rat Genome Database

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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
 xref: MESH:C565324;   MIM:605543;   MONDO:0011562;   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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605543
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4		 OMIM
CTD
MouseDO
ClinVar		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 4:91,026,474...91,127,444
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 19140
    Diseases of the Aged 1477
      dementia 879
        Lewy body dementia 40
          Parkinson's disease 4 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            movement disease 2631
              Parkinsonism 455
                Parkinson's disease 373
                  late onset Parkinson's disease 28
                    Parkinson's disease 4 1
paths to the root