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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 17
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Accession:DOID:9001849 term browser browse the term
Synonyms:exact_synonym: MC4DN17
 primary_id: OMIM:619061
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apopt1 apoptogenic 1, mitochondrial ISO OMIM NCBI chrNW_004955538:2,415,781...2,432,742
Ensembl chrNW_004955538:2,415,604...2,434,658
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    Nutritional and Metabolic Diseases 4174
      disease of metabolism 4174
        inherited metabolic disorder 2245
          cytochrome-c oxidase deficiency disease 30
            Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
Path 2
Term Annotations click to browse term
  disease 12744
    Developmental Disease 9641
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8392
        genetic disease 7967
          inherited metabolic disorder 2245
            mitochondrial metabolism disease 371
              cytochrome-c oxidase deficiency disease 30
                Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
paths to the root