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



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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 OMIM
ClinVar
PMID:2256350 PMID:9536098 PMID:17576681 PMID:22563501 PMID:23211418 More... NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
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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 19A 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 19A 1
paths to the root