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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 7
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Accession:DOID:0111487 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COXPD7;   severe C12ORF65-related COXPD;   severe C12ORF65-related combined oxidative phosphorylation defect
 primary_id: OMIM:613559
 alt_id: DOID:9005720;   RDO:0009909
 xref: ORDO:254930
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combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 7 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial encephalomyopathy 46
                        combined oxidative phosphorylation deficiency 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.