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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,
Echinobase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MIM:276600 - tyrosinemia, type ii; tyrsn2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
tyrosinemia (is_a)