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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 20
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Accession:DOID:0060898 term browser browse the term
Definition:An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: PARK20;   early-onset Parkinson disease 20;   early-onset Parkinson's disease 20
 primary_id: OMIM:615530
 alt_id: RDO:9000983
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset OMIM
ClinVar
PMID:23804563, PMID:23804577, PMID:24609975, PMID:25316601, PMID:25741868, PMID:26046367, PMID:26467025, PMID:27393345, PMID:27435091, PMID:27496670, PMID:27869329, PMID:28135719, PMID:28492532, PMID:29163333, PMID:30311386 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                Parkinson's disease 20 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Parkinsonian Disorders 331
                Parkinson's disease 250
                  early-onset Parkinson's disease 17
                    Parkinson's disease 20 2
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.