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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 19A
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Accession:DOID:0060891 term browser browse the term
Definition:An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: PARK19A;   Parkinson disease 19, juvenile-onset;   Parkinson's disease 19, juvenile-onset;   juvenile onset Parkinson disease 19A;   juvenile onset Parkinson's disease 19A
 narrow_synonym: PARK19;   PARK19B;   Parkinson disease 19B, early-onset;   Parkinson's disease 19B, early-onset
 primary_id: OMIM:615528
 xref: NCI:C198608


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Parkinson's disease 19A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 More... NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448 		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 recessive disease 6583
                Parkinson's disease 19A 1
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
                  early-onset Parkinson's disease 100
                    Parkinson's disease 19A 1
paths to the root