Search Ontology:
Human Disease

tyrosinemia type I

Term ID
DOID:0050726
Synonyms
  • hepatorenal tyrosinemia
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. http://en.wikipedia.org/wiki/Type_I_tyrosinemia
References
Ontology
Human Disease   ( DOID:0050726 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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