# properdin deficiency

> human disease

**Wikidata**: [Q7250189](https://www.wikidata.org/wiki/Q7250189)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Properdin_deficiency)  
**Source**: https://4ort.xyz/entity/properdin-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000126759/Orphanet_2966)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)