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galactosemia

Summary

Synonym

Galactosaemia
Galactose intolerance

Definition

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

Super Class

carbohydrate metabolic disorder

External Links

Disease Ontology

DOID:9870

Mondo Disease Ontology

MONDO:0018116

MeSH

D005693

UMLS

C0016952

NCI Thesaurus

C84723

GARD

2424

MGI genotype (from TogoID)

6191762

WikiPathways (from TogoID)

WP5173

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
14430	Galt	galactose-1-phosphate uridyl transferase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
33935	Galt	Galactose-1-phosphate uridylyltransferase	Alliance of Genome Resources
38076	Gale	UDP-galactose 4'-epimerase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
173171	gale-1	UDP-glucose 4-epimerase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
852306	GAL7	UDP-glucose:hexose-1-phosphate uridylyltransferase	Alliance of Genome Resources
852307	GAL10	bifunctional UDP-glucose 4-epimerase/aldose 1-epimerase	Alliance of Genome Resources