# 22q11 deletion syndrome

> chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features

**Wikidata**: [Q18554351](https://www.wikidata.org/wiki/Q18554351)  
**Source**: https://4ort.xyz/entity/22q11-deletion-syndrome


## References

1. Orphanet Rare Disease Ontology
2. Disease Ontology
3. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023