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Term:mitochondrial pyruvate carrier deficiency
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Accession:DOID:0080363 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)
Synonyms:exact_synonym: MPYCD
 primary_id: OMIM:614741
 alt_id: RDO:9000572
 xref: ORDO:447784
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mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link NW_004955439 15,515,966 15,531,618 RGD:9068941

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Term Annotations click to browse term
  disease 10706
    Nutritional and Metabolic Diseases 3008
      disease of metabolism 3008
        mitochondrial metabolism disease 288
          mitochondrial pyruvate carrier deficiency 1
Path 2
Term Annotations click to browse term
  disease 10706
    Developmental Diseases 6981
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6407
        genetic disease 5844
          monogenic disease 2934
            autosomal genetic disease 2031
              autosomal recessive disease 1150
                mitochondrial pyruvate carrier deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.