# Vici syndrome

> autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3.

**Wikidata**: [Q7925271](https://www.wikidata.org/wiki/Q7925271)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Vici_syndrome)  
**Source**: https://4ort.xyz/entity/vici-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000152223/MONDO_0009452)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)