# Axenfeld-Rieger syndrome type 1

> Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25

**Wikidata**: [Q27677638](https://www.wikidata.org/wiki/Q27677638)  
**Source**: https://4ort.xyz/entity/axenfeld-rieger-syndrome-type-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)