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DO Term : tyrosinemia type I [DOID:0050726] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:276700,
  • hepatorenal tyrosinemia,
  • 276700
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents