| Metadata | |
|---|---|
| ID | DOID:0111458 |
| Name | galactose epimerase deficiency |
| Definition | A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. https://www.ncbi.nlm.nih.gov/pubmed/8593531, https://www.ncbi.nlm.nih.gov/pubmed/9700591 |
| Xrefs |
SNOMEDCT_US_2023_03_01:8849004 |
| Subsets |
DO_rare_slim |
| Synonyms |
epimerase deficiency galactosemia [EXACT] galactosemia III [EXACT] galactosemia type 3 [EXACT] GALE deficiency [EXACT] GALE-D [EXACT] UDP-galactose-4-epimerase deficiency [EXACT] uridine diphosphate galactose-4-epimerase deficiency [EXACT] |
| Parent Relationships |
is_a galactosemia |