# carboxypeptidase N deficiency

> autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity

**Wikidata**: [Q54319305](https://www.wikidata.org/wiki/Q54319305)  
**Source**: https://4ort.xyz/entity/carboxypeptidase-n-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)