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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 7
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Accession:DOID:0060370 term browser browse the term
Definition:An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: PARK7;   Parkinson disease 7;   autosomal recessive early-onset Parkinson disease 7;   autosomal recessive early-onset Parkinson's disease 7
 primary_id: MESH:C565238
 alt_id: OMIM:606324
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by OMIM:606324
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
ClinVar Annotator: match by term: Parkinson disease 7
OMIM
ClinVar
CTD
PMID:1818649 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15254937 PMID:15365989 PMID:15790532 PMID:15944198 PMID:16997464 PMID:18181649 PMID:18436956 PMID:18436965 PMID:18973254 PMID:19405094 PMID:19429112 PMID:20639397 PMID:20981092 PMID:21532868 PMID:22173095 PMID:22428580 PMID:22492997 PMID:22960331 PMID:22995991 PMID:23241025 PMID:23792957 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:27884173 PMID:28348719 PMID:28492532 PMID:28993701 PMID:29599708 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                Parkinson's disease 7 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Parkinsonism 338
                Parkinson's disease 261
                  early-onset Parkinson's disease 17
                    Parkinson's disease 7 1
paths to the root