# amelogenesis imperfecta hypomaturation type 2A5

> amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32

**Wikidata**: [Q27674808](https://www.wikidata.org/wiki/Q27674808)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-hypomaturation-type-2a5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)