# CD40 deficiency

> Human disease

**Wikidata**: [Q5957519](https://www.wikidata.org/wiki/Q5957519)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_3)  
**Source**: https://4ort.xyz/entity/cd40-deficiency


## References

1. Disease Ontology
2. UniProt
3. Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101017/MONDO_0011735)
5. BabelNet
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Monarch Disease Ontology release 2018-06-29
8. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)