Term Name: | tyrosinemia type II |
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Synonyms: | Oculocutaneous tyrosinemia, Richner-Hanhart syndrome |
Definition: | A 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. |
Ontology: | Human Disease [DOID:0050725] ( DOID:0050725 ) |