| Disease ID | Source | Name | Description |
| 606003 | OMIM | Transaldolase deficiency (TALDOD) | An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. The disease is caused by variants affecting the gene represented in this entry. |