# immunodeficiency-centromeric instability-facial anomalies syndrome

> autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases

**Wikidata**: [Q42863536](https://www.wikidata.org/wiki/Q42863536)  
**Source**: https://4ort.xyz/entity/immunodeficiency-centromeric-instability-facial-anomalies-syndrome


## References

1. Disease Ontology
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000088305/Orphanet_2268)
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112365/Orphanet_2268)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119969/Orphanet_2268)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144354/Orphanet_2268)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)