# transketolase deficiency

> human disease

**Wikidata**: [Q55785079](https://www.wikidata.org/wiki/Q55785079)  
**Source**: https://4ort.xyz/entity/transketolase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
4. UMLS 2023