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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;   VPS35-RELATED CONDITION;   autosomal dominant Parkinson disease 17
 xref: MIM:614203;   MONDO:0013625;   NCI:C201520


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Parkinson's disease 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYLK3 myosin light chain kinase 3 IAGP ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr16:46,702,282...46,763,246
Ensembl chr16:46,702,282...46,790,407 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G VPS35 VPS35 retromer complex component IAGP
ISS		 ClinVar Annotator: match by term: Parkinson disease 17 | ClinVar Annotator: match by term: VPS35-related condition
OMIM:614203		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    Developmental Disease 42111
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 35410
        genetic disease 33598
          monogenic disease 25205
            autosomal genetic disease 23901
              autosomal dominant disease 17005
                Parkinson's disease 17 3
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        central nervous system disease 39994
          brain disease 37616
            movement disease 4100
              Parkinsonism 583
                Parkinson's disease 419
                  late onset Parkinson's disease 39
                    Parkinson's disease 17 3
paths to the root