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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 9
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Accession:DOID:0111472 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: COXPD9
 primary_id: OMIM:614582
 xref: ORDO:319509
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combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link 8 113,603,533 113,626,893 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal recessive disease 2078
                combined oxidative phosphorylation deficiency 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.