# primary immunodeficiency disease

> immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation

**Wikidata**: [Q3043160](https://www.wikidata.org/wiki/Q3043160)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Primary_immunodeficiency)  
**Source**: https://4ort.xyz/entity/primary-immunodeficiency-disease


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Monarch Disease Ontology release 2018-06-29
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. Human Phenotype Ontology release 2018-03-08
7. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)