alkaptonuria (Q651680)

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amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct
  • Homogentisate 1,2-dioxygenase deficiency
  • alcaptonuria
  • deficiency of homogentisicase
  • Homogentisic Acid Oxidase Deficiency
  • AKU
  • Alkaptonuric ochronosis
  • ochronosis, hereditary
  • hereditary ochronosis
  • homogentisic acidura
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Language Label Description Also known as
English
alkaptonuria
amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct
  • Homogentisate 1,2-dioxygenase deficiency
  • alcaptonuria
  • deficiency of homogentisicase
  • Homogentisic Acid Oxidase Deficiency
  • AKU
  • Alkaptonuric ochronosis
  • ochronosis, hereditary
  • hereditary ochronosis
  • homogentisic acidura

Statements

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Alkaptonuria
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Identifiers

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5C50.10
Alkaptonuria
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14108191-n
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