# 22q13 deletion syndrome

> human disease

**Wikidata**: [Q1926345](https://www.wikidata.org/wiki/Q1926345)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/22q13_deletion_syndrome)  
**Source**: https://4ort.xyz/entity/22q13-deletion-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e941703a-0f30-4f4c-a997-bc3b4295f289--2018-12-12T17:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941703a-0f30-4f4c-a997-bc3b4295f289-2018-12-12T170000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000251322/MONDO_0011652)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000251322/Orphanet_48652)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)