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 |
|
| closeMatch | ||
| database_cross_reference |
ICD10:E74.2 Orphanet:79238 OMIM:230350 GARD:0005392 SCTID:8849004 DOID:0111458 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_79238 http://identifiers.org/snomedct/8849004 |
|
| 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 |
|
| id |
MONDO:0009257 |
|
| imported from | ||
| in_subset | ||
| label |
galactose epimerase deficiency |
|
| notation |
MONDO:0009257 |
|
| prefLabel |
galactose epimerase deficiency |
|
| see also |
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 |