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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 17
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Accession:DOID:0060897 term browser browse the term
Definition:A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: PARK17;   Parkinson disease 17;   autosomal dominant Parkinson disease 17
 primary_id: OMIM:614203
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease 17 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763483 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:25288323 PMID:26251041 PMID:28492532 PMID:28796472 PMID:28862745 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                Parkinson's disease 17 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            movement disease 1352
              Parkinsonism 374
                Parkinson's disease 295
                  late onset Parkinson's disease 28
                    Parkinson's disease 17 2
paths to the root