# amelogenesis imperfecta hypomaturation type 2A3

> amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene

**Wikidata**: [Q27674806](https://www.wikidata.org/wiki/Q27674806)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-hypomaturation-type-2a3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)