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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 17
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Accession:DOID:0111496 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12. (DO)
Synonyms:exact_synonym: COXPD17
 primary_id: OMIM:615440
 xref: ORDO:369913
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combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elac2 elaC ribonuclease Z 2 JBrowse link 10 51,478,378 51,501,167 RGD:7240710
RGD:8554872

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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 17 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 17 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.