Also known as Oculocutaneous tyrosinemia, Richner-Hanhart syndrome, Hypertyrosinemia type II, Tyrosinemia II, Hereditary tyrosinemia, Type II, TYRSN2
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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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).