# Kahrizi syndrome

> autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene

**Wikidata**: [Q18553489](https://www.wikidata.org/wiki/Q18553489)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Kahrizi_syndrome)  
**Source**: https://4ort.xyz/entity/kahrizi-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000128039/MONDO_0012991)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)