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Ontology Browser

tyrosinemia type I (DOID:0050726)
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Parent Terms Term With Siblings Child Terms
tyrosinemia +     
tyrosinemia type I  
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. (DO)
tyrosinemia type II  
tyrosinemia type III  

Exact Synonyms: TYRSN1 ;   hepatorenal tyrosinemia ;   hepatorenal tyrosinemias ;   hereditary tyrosinemia, type I ;   type I hypertyrosinemia ;   tyrosinemia type 1
Primary IDs: OMIM:276700
Xrefs: NCI:C98641
Definition Sources: "DO"

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