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DOID:0050725 - tyrosinemia type II
Disease Ontology 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.
Synonyms: Oculocutaneous tyrosinemia, Richner-Hanhart syndrome,
Xenbase Genes : tat
MONDO:0010160 - tyrosinemia type II |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee