Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
Accession:DOID:9002877 term browser browse the term
Synonyms:exact_synonym: Parkinson Disease, Mitochondrial
 primary_id: MESH:C564015;   RDO:0013117
 alt_id: MIM:556500


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 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        mitochondrial metabolism disease 819
          Parkinson's Disease, Mitochondrial 3
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            movement disease 2631
              Parkinsonism 455
                Parkinson's disease 373
                  Parkinson's Disease, Mitochondrial 3
paths to the root