loading...| Preferred Name |
galactose epimerase deficiency |
|
| Synonyms |
GALE-D GALE deficiency galactosemia type 3 UDP-galactose-4-epimerase deficiency uridine diphosphate galactose-4-epimerase deficiency galactose epimerase deficiency epimerase deficiency galactosemia Gale deficiency galactosemia 3 |
|
| Definitions |
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009257 |
|
| has_exact_synonym |
GALE-D GALE deficiency galactosemia type 3 UDP-galactose-4-epimerase deficiency uridine diphosphate galactose-4-epimerase deficiency galactose epimerase deficiency epimerase deficiency galactosemia |
|
| has_related_synonym |
Gale deficiency galactosemia 3 |
|
| label |
galactose epimerase deficiency |
|
| prefixIRI |
MONDO:0009257 |
|
| prefLabel |
galactose epimerase deficiency |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency |
|
| textual definition |
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. |
|
| subClassOf |