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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 4
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Accession:DOID:0080360 term browser browse the term
Definition:A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: CEMCOX4;   MC4DN13;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4;   mitochondrial complex IV deficiency nuclear type 13
 primary_id: OMIM:616501
For additional species annotation, visit the Alliance of Genome Resources.



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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          cytochrome-c oxidase deficiency disease 29
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        peripheral nervous system disease 2997
          neuropathy 2785
            neuromuscular disease 2204
              muscular disease 1434
                muscle tissue disease 951
                  myopathy 782
                    mitochondrial myopathy 110
                      mitochondrial encephalomyopathy 68
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
paths to the root