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   new 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

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:mitochondrial complex V (ATP synthase) deficiency nuclear type 3
go back to main search page
Accession:DOID:0060332 term browser browse the term
Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX;   MC5DN3;   mitochondrial complex V (ATP synthase) deficiency, ATP5E type
 primary_id: OMIM:614053


show annotations for term's descendants           Sort by:
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex ClinVar PMID:29478781
G ATP5F1E ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 OMIM
ClinVar		 PMID:20566710 PMID:34954817 NCBI chr20:55,379,615...55,383,316
Ensembl chr20:56,740,739...56,744,431 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        mitochondrial metabolism disease 810
          mitochondrial complex V (ATP synthase) deficiency 10
            mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            mitochondrial metabolism disease 810
              mitochondrial complex V (ATP synthase) deficiency 10
                mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2
paths to the root