# triosephosphate isomerase deficiency

> Genetic metabolic disorder

**Wikidata**: [Q458099](https://www.wikidata.org/wiki/Q458099)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency)  
**Source**: https://4ort.xyz/entity/triosephosphate-isomerase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111669/MONDO_0014221)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111669/Orphanet_868)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)