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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 29
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Accession:DOID:0111501 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3. (DO)
Synonyms:exact_synonym: COXPD29
 primary_id: OMIM:616811
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combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Txn2 thioredoxin 2 JBrowse link 7 119,144,350 119,158,173 RGD:8554872
RGD:7240710

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Path 1
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  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 29 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 29 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.