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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency 12
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Accession:DOID:0111493 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2. (DO)
Synonyms:exact_synonym: COXPD12;   LTBL;   leukoencephalopathy with thalamus and brainstem involvement and high lactate;   leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
 primary_id: OMIM:614924
 xref: GARD:13381;   ORDO:314051
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combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 16022
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        mitochondrial metabolism disease 324
          combined oxidative phosphorylation deficiency 49
            combined oxidative phosphorylation deficiency 12 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                combined oxidative phosphorylation deficiency 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.