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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 7
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Accession:DOID:0060370 term browser browse the term
Definition:An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: PARK7;   Parkinson disease 7;   autosomal recessive early-onset Parkinson disease 7;   autosomal recessive early-onset Parkinson's disease 7
 primary_id: MESH:C565238
 alt_id: OMIM:606324
 xref: NCI:C198606


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                Parkinson's disease 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Parkinsonism 454
                Parkinson's disease 373
                  early-onset Parkinson's disease 100
                    Parkinson's disease 7 1
paths to the root