# autosomal recessive hypohidrotic ectodermal dysplasia

> autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR receptor or EDAR-associated death domain protein

**Wikidata**: [Q54911667](https://www.wikidata.org/wiki/Q54911667)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-hypohidrotic-ectodermal-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Gene defect in ectodermal dysplasia implicates a death domain adapter in development
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000186197/MONDO_0016619)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135960/MONDO_0016619)