# amelogenesis imperfecta hypomaturation type 2A2

> amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)

**Wikidata**: [Q27674805](https://www.wikidata.org/wiki/Q27674805)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-hypomaturation-type-2a2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)