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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 10
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Accession:DOID:9006390 term browser browse the term
Synonyms:exact_synonym: MC4DN10
 primary_id: OMIM:619053
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox14 cytochrome c oxidase assembly factor COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 ClinVar
OMIM
PMID:22243966 NCBI chr 7:141,378,537...141,380,960
Ensembl chr 7:141,380,322...141,380,495
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Nutritional and Metabolic Diseases 5523
      disease of metabolism 5523
        inherited metabolic disorder 2614
          cytochrome-c oxidase deficiency disease 31
            Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          inherited metabolic disorder 2614
            mitochondrial metabolism disease 391
              cytochrome-c oxidase deficiency disease 31
                Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
paths to the root