WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050726 tyrosinemia type I 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.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667 disease of metabolism A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:655 inherited metabolic disorder A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9252 amino acid metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:9275 tyrosinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
DOID:0050726 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.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:9275 DOID:0050726
is_a DOID:630 DOID:0050726
is_a DOID:4 DOID:0050726
is_a DOID:0014667 DOID:0050726
is_a DOID:655 DOID:0050726
is_a DOID:9252 DOID:0050726

1 Synonyms

Name Type
hepatorenal tyrosinemia synonym