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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
 xref: 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 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614203
ClinVar Annotator: match by term: Parkinson disease 17		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Parkinson's disease 17 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Parkinsonism 452
                Parkinson's disease 371
                  late onset Parkinson's disease 28
                    Parkinson's disease 17 3
paths to the root