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Echinobase
Summary Literature (0)
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

Echinobase Genes : tat


MIM:
MIM:276600 - tyrosinemia, type ii; tyrsn2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): liver disease (is_a), skin disease (is_a), tyrosinemia (is_a)