| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (Human Disease Ontology, DOID_9870) |
| External Link | http://www.omim.org/entry/230400 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the galactosemia phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| GALT | galactose-1-phosphate uridylyltransferase |
