Preferred Name |
galactosemia |
|
Synonyms |
galactosemia galactosaemia galactose intolerance |
|
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0018116 |
|
disease has feature | ||
has_exact_synonym |
galactosemia galactosaemia galactose intolerance |
|
label |
galactosemia |
|
prefixIRI |
MONDO:0018116 |
|
prefLabel |
galactosemia |
|
textual definition |
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. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017690 http://purl.obolibrary.org/obo/MONDO_0100191 |