# Ribose-5-phosphate isomerase deficiency

> human disease

**Wikidata**: [Q6583504](https://www.wikidata.org/wiki/Q6583504)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ribose-5-phosphate_isomerase_deficiency)  
**Source**: https://4ort.xyz/entity/ribose-5-phosphate-isomerase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000153574/MONDO_0012073)