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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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                Parkinson's disease 19A 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  early-onset Parkinson's disease 17
                    Parkinson's disease 19A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.