ONTOLOGY REPORT - ANNOTATIONS


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
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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        mitochondrial metabolism disease 329
          cytochrome-c oxidase deficiency disease 26
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 79
                      mitochondrial encephalomyopathy 43
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
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