# amelogenesis imperfecta type 1H

> amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24

**Wikidata**: [Q27674809](https://www.wikidata.org/wiki/Q27674809)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-type-1h


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)