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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 22
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Accession:DOID:0111498 term browser browse the term
Definition:An autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. (OMIM)
Synonyms:exact_synonym: COXPD22
 primary_id: OMIM:616045
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combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 22 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 22 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.