# Nijmegen breakage syndrome

> human disease

**Wikidata**: [Q1250362](https://www.wikidata.org/wiki/Q1250362)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome)  
**Source**: https://4ort.xyz/entity/nijmegen-breakage-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response
6. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/de6fa1fe-a86e-4f0d-8da8-7690debe9aec--2019-08-14T19:31:32)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6fa1fe-a86e-4f0d-8da8-7690debe9aec-2019-08-14T193132.776Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104320/MONDO_0009623)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)