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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 13
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Accession:DOID:0111467 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1. (DO)
Synonyms:exact_synonym: COXPD13
 primary_id: OMIM:614932
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combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872

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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 13 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 13 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.