Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
go back to main search page
Accession:DOID:0050713 term browser browse the term
Definition:A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase. (DO)
Synonyms:exact_synonym: fatal infantile COX deficiency;   fatal infantile cytochrome C oxidase deficiency;   fatal infantile encephalocardiomyopathy
 primary_id: RDO:9004918
 xref: ORDO:1561
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
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
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
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
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        Metabolic Brain Diseases 475
          mitochondrial encephalomyopathy 46
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 3
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
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
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.