| Disease ID | Source | Name | Description |
| 229600 | OMIM | Hereditary fructose intolerance (HFI) | Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. The disease is caused by variants affecting the gene represented in this entry. |