(Q7484623)

English

tyrosinemia type II

tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels

  • Oculocutaneous tyrosinemia
  • Richner-Hanhart syndrome
  • Hypertyrosinemia type II
  • Tyrosinemia II
  • Hereditary tyrosinemia, Type II
  • TYRSN2
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C129032
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