# MEDNIK syndrome

> syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22

**Wikidata**: [Q22030615](https://www.wikidata.org/wiki/Q22030615)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/MEDNIK_syndrome)  
**Source**: https://4ort.xyz/entity/mednik-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106367/MONDO_0012251)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)