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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 22
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Accession:DOID:0080504 term browser browse the term
Definition:A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)
Synonyms:exact_synonym: PARK22;   Parkinson disease 22, autosomal dominant;   autosomal dominant Parkinson's disease 22
 primary_id: OMIM:616710
 alt_id: RDO:9000403
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant OMIM
ClinVar
PMID:25662902, PMID:26067113 NCBI chr 9:101,388,148...101,388,819
Ensembl chr 9:101,388,151...101,388,833
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Parkinson's disease 22 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  late onset Parkinson's disease 24
                    Parkinson's disease 22 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.