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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, Mitochondrial
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Accession:DOID:9002877 term browser browse the term
Synonyms:exact_synonym: Parkinson Disease, Mitochondrial
 primary_id: MESH:C564015;   RDO:0013117
 alt_id: OMIM:556500
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:66,276,835...66,284,868
Ensembl chr 4:66,276,835...66,284,868
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by null ClinVar PMID:9570948 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        mitochondrial metabolism disease 389
          Parkinson's Disease, Mitochondrial 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            movement disease 1353
              Parkinsonism 375
                Parkinson's disease 296
                  Parkinson's Disease, Mitochondrial 3
paths to the root