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About: tyrosinemia type I     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • tyrosinemia type I
described by
id
  • DOID:0050726
created_by
  • lschriml
creation_date
  • 2012-07-06T02:55:45Z
database_cross_reference
  • OMIM:276700
has_exact_synonym
  • hepatorenal tyrosinemia (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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