WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:9870 galactosemia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

1 Ontology

Name
Disease Ontology

6 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:9870 galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:9870 DOID:0060969
is_a DOID:9870 DOID:0111458
is_a DOID:9870 DOID:0111459
is_a DOID:9870 DOID:14695
is_a DOID:2978 DOID:9870
is_a DOID:655 DOID:9870
is_a DOID:0014667 DOID:9870
is_a DOID:4 DOID:9870
is_a DOID:630 DOID:9870

2 Synonyms

Name Type
Galactosaemia synonym
Galactose intolerance synonym