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Pyruvate kinase hyperactivity

^ http://www.ebi.ac.uk/efo/EFO_0005840


Autosomal dominant phenotype characterized by increase of red blood cell ATP. [ EFO:0005840 ]

Synonyms: adenosine triphosphate, elevated, of erythrocytes, pyruvate kinase hyperactivity, PKHYP

Term info

database cross reference
  • MSH:C566310
  • UMLS:C1863224 (OMIM:102900)
  • OMIM:102900 (MONDO:equivalentTo)
  • MONDO:0007067
  • MESH:C566310 (MONDO:ontobio)
  • UniProt:P30613
exactMatch

http://identifiers.org/mesh/C566310, http://linkedlifedata.com/resource/umls/id/C1863224, http://identifiers.org/omim/102900

has related synonym

adenosine triphosphate, elevated, of erythrocytes

id

EFO:0005840

term editor

Sirarat Sarntivijai

Term relations