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ONTOLOGY REPORT - ANNOTATIONS


Term:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
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Accession:DOID:0080357 term browser browse the term
Definition:A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: CEMCOX1;   Fatal Infantile Cytochrome C Oxidase Deficiency, with Cardioencephalomyopathy
 primary_id: MESH:C565784
 alt_id: OMIM:604377;   RDO:0014331
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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 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:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          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 1 3
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 3
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