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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 IV Deficiency, Nuclear Type 20
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Accession:DOID:9004621 term browser browse the term
Synonyms:exact_synonym: MC4DN20
 primary_id: OMIM:619064
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 ClinVar
OMIM
PMID:28247525 NCBI chr 8:57,922,374...57,933,781 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Nutritional and Metabolic Diseases 5532
      disease of metabolism 5532
        inherited metabolic disorder 2622
          cytochrome-c oxidase deficiency disease 31
            Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
Path 2
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8960
          inherited metabolic disorder 2622
            mitochondrial metabolism disease 392
              cytochrome-c oxidase deficiency disease 31
                Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
paths to the root