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Term:combined oxidative phosphorylation deficiency 6
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Accession:DOID:0111502 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1. (DO)
Synonyms:exact_synonym: COXPD6;   ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED;   Mitochondrial encephalomyopathy due to COXPD6;   Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6;   severe X-linked mitochondrial encephalomyopathy
 primary_id: OMIM:300816
 alt_id: DOID:9004338;   RDO:0008660
 xref: ORDO:238329
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combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 6 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  myopathy 559
                    mitochondrial myopathy 79
                      mitochondrial encephalomyopathy 46
                        combined oxidative phosphorylation deficiency 6 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.