# hyper-IgM syndrome type 2

> human disease

**Wikidata**: [Q5957516](https://www.wikidata.org/wiki/Q5957516)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_2)  
**Source**: https://4ort.xyz/entity/hyper-igm-syndrome-type-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b34c451d-03a1-42dd-a439-599428b0eb38-2021-09-17T121716.866Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111732/MONDO_0011528)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)