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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:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
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Accession:DOID:0080359 term browser browse the term
Definition:A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: CEMCOX3;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3
 primary_id: OMIM:616500
 alt_id: RDO:9001383
For additional species annotation, visit the Alliance of Genome Resources.


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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          cytochrome-c oxidase deficiency disease 27
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.