# amelogenesis imperfecta type 1F

> amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13

**Wikidata**: [Q27674811](https://www.wikidata.org/wiki/Q27674811)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-type-1f


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)