Search Ontology:
Human Disease

tyrosinemia type II

Term ID
DOID:0050725
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. (2)
References
Ontology
Human Disease   ( DOID:0050725 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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