About   Help   FAQ
Disease Ontology Browser
tyrosinemia type II (DOID:0050725)
Alliance: disease page
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory