OBO ID: DOID:0050726
Term Name: tyrosinemia type I Search Ontology:
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 tyrosinemia type I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FAH Tyrosinemia, type I 276700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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