# familial cold autoinflammatory syndrome 2

> familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP12 gene on chromosome 19q13

**Wikidata**: [Q30990079](https://www.wikidata.org/wiki/Q30990079)  
**Source**: https://4ort.xyz/entity/familial-cold-autoinflammatory-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in NALP12 cause hereditary periodic fever syndromes
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142405/MONDO_0012724)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)