homocystinuria (Q994859)

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amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine
  • CBS deficiency
  • Homocystinuria (disorder)
  • cystathionine beta synthase deficiency
  • cystathionine synthase deficiency
  • homocystinuria
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Language Label Description Also known as
English
homocystinuria
amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine
  • CBS deficiency
  • Homocystinuria (disorder)
  • cystathionine beta synthase deficiency
  • cystathionine synthase deficiency
  • homocystinuria

Statements

Homocystinuria
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Identifiers

MONDO:0004737
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