# skin fragility-woolly hair-palmoplantar keratoderma syndrome

> human disease

**Wikidata**: [Q55783523](https://www.wikidata.org/wiki/Q55783523)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Skin_fragility-woolly_hair-palmoplantar_keratoderma_syndrome)  
**Source**: https://4ort.xyz/entity/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000096696/MONDO_0011882)
4. UMLS 2023