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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 38
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Accession:DOID:0111466 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1. (DO)
Synonyms:exact_synonym: COXPD38
 primary_id: OMIM:618378
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combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps14 mitochondrial ribosomal protein S14 JBrowse link 13 77,940,454 77,946,201 RGD:8554872
RGD:7240710

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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 38 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 38 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.