# atrioventricular septal defect

> Human disease

**Wikidata**: [Q390211](https://www.wikidata.org/wiki/Q390211)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Atrioventricular_septal_defect)  
**Source**: https://4ort.xyz/entity/atrioventricular-septal-defect


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Identification of GATA6 sequence variants in patients with congenital heart defects.
4. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
5. Spectrum of heart disease associated with murine and human GATA4 mutation
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023
8. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)