WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050884 triosephosphate isomerase deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.

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:2978 carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:4194 glucose metabolism disease A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4194 DOID:0050884
is_a DOID:2978 DOID:0050884
is_a DOID:655 DOID:0050884
is_a DOID:0014667 DOID:0050884
is_a DOID:4 DOID:0050884
is_a DOID:630 DOID:0050884

1 Synonyms

Name Type
Triose phosphate-isomerase deficiency synonym