Search Ontology:
Human Disease
tyrosinemia type I
- Term ID
- DOID:0050726
- Synonyms
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- 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 )
- is a type of
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