# amelogenesis imperfecta

> dental enamel hypoplasia characterized by abnormal enamel formation

**Wikidata**: [Q461854](https://www.wikidata.org/wiki/Q461854)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Amelogenesis_imperfecta)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. Freebase Data Dumps. 2013
4. [Genomics England PanelApp](https://panelapp.genomicsengland.co.uk/panels/269/)
5. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
6. BabelNet
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)