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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 11
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Accession:DOID:0111481 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1. (DO)
Synonyms:exact_synonym: COXPD11;   infantile encephaloneuromyopathy, due to mitochondrial translation defect
 primary_id: OMIM:614922
 xref: ORDO:324535
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combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 11 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.