OBO ID: DOID:0050725
Term Name: tyrosinemia type II Search Ontology:
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 tyrosinemia type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TAT Tyrosinemia, type II 276600
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None