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Term:combined oxidative phosphorylation deficiency 32
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Accession:DOID:0111492 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation. (OMIM)
Synonyms:exact_synonym: COXPD32
 primary_id: OMIM:617664
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combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872

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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 32 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                combined oxidative phosphorylation deficiency 32 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.