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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:mitochondrial complex V (ATP synthase) deficiency nuclear type 3
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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


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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 IAGP ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex ClinVar PMID:29478781 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3		 OMIM
CTD
ClinVar		 PMID:20566710 PMID:34954817 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G SLMO2-ATP5E SLMO2-ATP5E readthrough IAGP ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ClinVar PMID:20566710 PMID:34954817 NCBI chr20:59,028,678...59,042,846 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        mitochondrial metabolism disease 1238
          mitochondrial complex V (ATP synthase) deficiency 43
            mitochondrial complex V (ATP synthase) deficiency nuclear type 3 3
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            mitochondrial metabolism disease 1238
              mitochondrial complex V (ATP synthase) deficiency 43
                mitochondrial complex V (ATP synthase) deficiency nuclear type 3 3
paths to the root