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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 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          cytochrome-c oxidase deficiency disease 27
            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 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    mitochondrial myopathy 75
                      mitochondrial encephalomyopathy 46
                        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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