loading...| Preferred Name |
galactose epimerase deficiency |
|
| Synonyms |
UDP-galactose-4-epimerase deficiency galactose epimerase deficiency epimerase deficiency galactosemia GALE deficiency galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency GALE-D 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 |
|
| database_cross_reference |
NANDO:2200534 DOID:0111458 OMIM:230350 SCTID:8849004 Orphanet:79238 GARD:5392 |
|
| definition |
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_79238 |
|
| has_exact_synonym |
UDP-galactose-4-epimerase deficiency galactose epimerase deficiency epimerase deficiency galactosemia GALE deficiency galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency GALE-D |
|
| has_related_synonym |
Gale deficiency galactosemia 3 |
|
| id |
MONDO:0009257 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
galactose epimerase deficiency |
|
| notation |
MONDO:0009257 |
|
| prefLabel |
galactose epimerase deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency |
|
| subClassOf |