Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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 : fah

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010161 - tyrosinemia type I

OMIM:
OMIM:276700 - TYROSINEMIA, TYPE I; TYRSN1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): tyrosinemia (is_a)