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ONTOLOGY REPORT - ANNOTATIONS


Term:Combined Oxidative Phosphorylation Deficiency 2
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Accession:DOID:9004406 term browser browse the term
Synonyms:exact_synonym: COXPD2;   Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis
 primary_id: MESH:C566468;   RDO:0014812
 alt_id: OMIM:610498
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Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Anatomical Pathological Conditions 1306
        Agenesis of Corpus Callosum 67
          Combined Oxidative Phosphorylation Deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 14924
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        Acid-Base Imbalance 72
          Acidoses 60
            metabolic acidosis 30
              lactic acidosis 23
                Combined Oxidative Phosphorylation Deficiency 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.