# pure hair-nail type ectodermal dysplasia

> human disease

**Wikidata**: [Q7261148](https://www.wikidata.org/wiki/Q7261148)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pure_hair-nail_type_ectodermal_dysplasia)  
**Source**: https://4ort.xyz/entity/pure-hair-nail-type-ectodermal-dysplasia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000123364/MONDO_0019071)
5. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
6. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)