# amelogenesis imperfecta type 1G

> amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24

**Wikidata**: [Q27164432](https://www.wikidata.org/wiki/Q27164432)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Enamel-renal_syndrome)  
**Source**: https://4ort.xyz/entity/amelogenesis-imperfecta-type-1g


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108950/MONDO_0008771)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Genetic and Rare Diseases Information Center