tyrosinemia type II (Q7484623)
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
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aliases Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Hypertyrosinemia type II
Tyrosinemia II
Hereditary tyrosinemia, Type II
TYRSN2
description 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

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