# CHARGE syndrome

> syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina

**Wikidata**: [Q1023604](https://www.wikidata.org/wiki/Q1023604)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/CHARGE_syndrome)  
**Source**: https://4ort.xyz/entity/charge-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/26ae5799-567b-431b-b981-3bc2f8635802--2018-08-22T20:16:33)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/26ae5799-567b-431b-b981-3bc2f8635802--2018-08-22T16:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/26ae5799-567b-431b-b981-3bc2f8635802--2018-08-23T16:00:00)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ae5799-567b-431b-b981-3bc2f8635802-2018-08-23T160000.000Z)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171316/MONDO_0008965)
12. BabelNet
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)