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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Pyruvate kinase hyperactivity
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Accession:EFO:0005840 term browser browse the term
Definition:Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Synonyms:exact_synonym: PKHYP
 related_synonym: adenosine triphosphate, elevated, of erythrocytes
 xref: DOID:9002812;   MEDGEN:350114;   MESH:C566310;   MIM:102900;   MONDO:0007067;   UMLS:C1863224;   UniProt:P30613

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Disorder of energy metabolism 0
              Pyruvate kinase hyperactivity 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of amino acid and other organic acid metabolism 0
                pyruvate metabolism disorder 0
                  Pyruvate kinase hyperactivity 0
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