tyrosinemia type I

Summary

DOID:0050726 - tyrosinemia type I

Disease Ontology 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.

Synonyms: hepatorenal tyrosinemia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fah

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010161 - tyrosinemia type I

MONDO:0010161 - tyrosinemia type I

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): tyrosinemia (is_a)