| Disease ID | Source | Name | Description |
| 227810 | OMIM | Fanconi-Bickel syndrome (FBS) | Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. The disease is caused by variants affecting the gene represented in this entry. |