# CEDNIK syndrome

> human disease

**Wikidata**: [Q5064098](https://www.wikidata.org/wiki/Q5064098)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/CEDNIK_syndrome)  
**Source**: https://4ort.xyz/entity/cednik-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000099940/MONDO_0012290)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)