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ONTOLOGY REPORT - ANNOTATIONS


Term:pyruvate carboxylase deficiency disease
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Accession:DOID:3651 term browser browse the term
Definition:An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Synonyms:exact_synonym: PC DEFICIENCY;   ataxia with lactic acidosis 2;   ataxia with lactic acidosis II;   deficiency of pyruvic carboxylase;   pyruvate carboxylase deficiency;   type II ataxia with lactic acidosis
 primary_id: MESH:D015324
 alt_id: OMIM:266150;   RDO:0001758
 xref: NCI:C85040
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pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pc pyruvate carboxylase JBrowse link 1 219,759,157 219,859,854 RGD:737741
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          pyruvate carboxylase deficiency disease 1
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                pyruvate carboxylase deficiency disease 1
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
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