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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 12
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Accession:DOID:9006173 term browser browse the term
Synonyms:exact_synonym: MC4DN12
 primary_id: OMIM:619055
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PET100 PET100 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar
OMIM
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,793...7,631,956
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    Nutritional and Metabolic Diseases 6024
      disease of metabolism 6024
        inherited metabolic disorder 2961
          cytochrome-c oxidase deficiency disease 40
            Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11280
        genetic disease 10739
          inherited metabolic disorder 2961
            mitochondrial metabolism disease 484
              cytochrome-c oxidase deficiency disease 40
                Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
paths to the root