| Term Name: | tyrosinemia type II |
|---|---|
| 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 ) |