WormBase Tree Display for DO_term: DOID:0111458
expand all nodes | collapse all nodes | view schema
| DOID:0111458 | Name | galactose epimerase deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. | ||||
| Synonym | Exact | GALE deficiency | |||
| GALE-D | |||||
| UDP-galactose-4-epimerase deficiency | |||||
| epimerase deficiency galactosemia | |||||
| galactosemia III | |||||
| galactosemia type 3 | |||||
| uridine diphosphate galactose-4-epimerase deficiency | |||||
| Parent | Is_a | DOID:9870 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 230350 | |
| Attribute_of | Gene_by_orthology | WBGene00008132 |
