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ONTOLOGY REPORT - ANNOTATIONS


Term:Combined Oxidative Phosphorylation Deficiency 3
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Accession:DOID:9005247 term browser browse the term
Synonyms:exact_synonym: COXPD3;   Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis;   Encephalomyopathy, Respiratory Failure, And Lactic Acidosis
 primary_id: MESH:C566467;   RDO:0014811
 alt_id: OMIM:610505
For additional species annotation, visit the Alliance of Genome Resources.


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Combined Oxidative Phosphorylation Deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          combined oxidative phosphorylation deficiency 44
            Combined Oxidative Phosphorylation 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
                      Combined Oxidative Phosphorylation Deficiency 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.