# amelogenesis imperfecta type 1C

> amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM)

**Wikidata**: [Q27164430](https://www.wikidata.org/wiki/Q27164430)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-type-1c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)