phenylketonuria (Q194041)

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amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
  • PKU
  • phenylalaninemia
  • Følling's disease
  • phenylketonurias
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Language Label Description Also known as
English
phenylketonuria
amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
  • PKU
  • phenylalaninemia
  • Følling's disease
  • phenylketonurias

Statements

Phenylketonurie
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Identifiers

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5C50.0
Phenylketonuria
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phenylketonuria
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MONDO:0009861
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Phenylketonuria
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