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 )

Relationships
is a type of: liver disease skin disease tyrosinemia