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Echinobase
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,

Echinobase Genes : fah


OMIM:
MIM: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)