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ONTOLOGY REPORT - ANNOTATIONS


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 1 53,026,608 53,038,229 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          mitochondrial pyruvate carrier deficiency 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                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.