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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 1
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Accession:DOID:0060367 term browser browse the term
Definition:A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)
Synonyms:exact_synonym: Lewy Body Parkinsonism;   PARK1;   PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;   PARKINSON'S DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;   Parkinson Disease, Familial, Type 1;   atypical Parkinson disease;   atypical Parkinson's disease;   autosomal dominant Parkinson disease;   autosomal dominant Parkinson disease 1;   autosomal dominant Parkinson's disease;   autosomal dominant Parkinson's disease 1;   familial Parkinson's disease, type 1
 primary_id: MESH:C566823
 alt_id: OMIM:168601;   RDO:0008113;   RDO:0012001
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinson's disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO ClinVar Annotator: match by OMIM:168601
ClinVar Annotator: match by term: Parkinson disease 1, autosomal dominant
OMIM
ClinVar
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                Parkinson's disease 1 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            movement disease 1401
              Parkinsonism 375
                Parkinson's disease 296
                  late onset Parkinson's disease 28
                    Parkinson's disease 1 1
paths to the root