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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 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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G LOC100911516 coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like ISO OMIM NCBI chr 9:101,106,892...101,107,591
Ensembl chr 9:101,106,892...101,107,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                Parkinson's disease 22 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Parkinsonian Disorders 333
                Parkinson's disease 255
                  late onset Parkinson's disease 29
                    Parkinson's disease 22 2
paths to the root