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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 2
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Accession:DOID:0111483 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2. (DO)
Synonyms:exact_synonym: COXPD2;   agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
 primary_id: MESH:C566468
 alt_id: DOID:9004406;   OMIM:610498;   RDO:0014812
 xref: ORDO:254920
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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 15602
    Pathological Conditions, Signs and Symptoms 8087
      Anatomical Pathological Conditions 1343
        Agenesis of Corpus Callosum 69
          combined oxidative phosphorylation deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                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.