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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 3
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Accession:DOID:9005748 term browser browse the term
Synonyms:exact_synonym: MC4DN3
 primary_id: OMIM:619046
For additional species annotation, visit the Alliance of Genome Resources.



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Mitochondrial Complex IV Deficiency, Nuclear Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 ClinVar
OMIM
PMID:10767350 PMID:12928484 PMID:15455402 PMID:25741868 PMID:32313153 NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2618
          cytochrome-c oxidase deficiency disease 31
            Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          inherited metabolic disorder 2618
            mitochondrial metabolism disease 394
              cytochrome-c oxidase deficiency disease 31
                Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
paths to the root