# pancytopenia-developmental delay syndrome

> human disease

**Wikidata**: [Q55784779](https://www.wikidata.org/wiki/Q55784779)  
**Source**: https://4ort.xyz/entity/pancytopenia-developmental-delay-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000182150/MONDO_0014317)
4. UMLS 2023