# Omenn syndrome

> Human disease

**Wikidata**: [Q2214419](https://www.wikidata.org/wiki/Q2214419)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Omenn_syndrome)  
**Source**: https://4ort.xyz/entity/omenn-syndrome


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Partial V(D)J recombination activity leads to Omenn syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166349/MONDO_0011338)
7. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175097/MONDO_0011338)
9. Omenn syndrome due to ARTEMIS mutations
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000152457/MONDO_0011338)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)