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Disease Ontology Browser
tyrosinemia type II (DOID:0050725)
Synonyms: Oculocutaneous tyrosinemia; Richner-Hanhart syndrome
Alt IDs: OMIM:276600
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory