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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 28
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Accession:DOID:0111470 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1. (DO)
Synonyms:exact_synonym: COXPD28;   neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
 primary_id: OMIM:616794
 xref: ORDO:466784
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combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a26 solute carrier family 25 member 26 JBrowse link 4 126,522,335 126,615,402 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 28 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                combined oxidative phosphorylation deficiency 28 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.