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Disease Ontology Browser
tyrosinemia type I (DOID:0050726)
Alliance: disease page
Synonyms: hepatorenal tyrosinemia
Alt IDs: OMIM:276700
Definition: A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.

Disease References using Mouse Models (10)
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)
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory