Experimental Factor Ontology

Last uploaded: January 16, 2025
Id http://purl.obolibrary.org/obo/MONDO_0018116
http://purl.obolibrary.org/obo/MONDO_0018116
Preferred Name

galactosemia

Definitions
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
Synonyms
galactose intolerance
galactosaemia
galactosemia
Type http://www.w3.org/2002/07/owl#Class
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