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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
 alt_id: RDO:9001256;   RDO:9001263
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: Parkinson disease 19b, early-onset
ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset
OMIM
ClinVar
PMID:2256350 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25741868 PMID:26528954 PMID:26703368 PMID:28492532 PMID:32214227 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Parkinson's disease 19A 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Parkinsonian Disorders 337
                Parkinson's disease 255
                  early-onset Parkinson's disease 18
                    Parkinson's disease 19A 1
paths to the root