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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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        mitochondrial metabolism disease 330
          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 1 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        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 1 3
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