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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

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Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 12 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 12 1
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