| Disease ID | Source | Name | Description |
| 617213 | OMIM | Sedoheptulokinase deficiency (SHPKD) | An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear. The disease is caused by variants affecting the gene represented in this entry. |