# DNA ligase IV deficiency

> Human disease

**Wikidata**: [Q6458655](https://www.wikidata.org/wiki/Q6458655)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/LIG4_syndrome)  
**Source**: https://4ort.xyz/entity/dna-ligase-iv-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec863c8-d668-4ebf-806e-e01f5a6407fe-2021-04-16T230148.883Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000174405/MONDO_0011686)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000174405/Orphanet_99812)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)