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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
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinson's disease 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7
OMIM
CTD
ClinVar
PMID:1818649 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                Parkinson's disease 7 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Parkinsonism 396
                Parkinson's disease 316
                  early-onset Parkinson's disease 50
                    Parkinson's disease 7 1
paths to the root