# cortisone reductase deficiency 2

> cortisone reductase deficiency that has material basis in heterozygous mutation in the HSD11B1 gene on chromosome 1q32

**Wikidata**: [Q30990041](https://www.wikidata.org/wiki/Q30990041)  
**Source**: https://4ort.xyz/entity/cortisone-reductase-deficiency-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)