# focal dermal hypoplasia

> form of ectodermal dysplasia

**Wikidata**: [Q5463847](https://www.wikidata.org/wiki/Q5463847)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Focal_dermal_hypoplasia)  
**Source**: https://4ort.xyz/entity/focal-dermal-hypoplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/20fc3afa-d10d-4239-885f-24e91cbb31a8--2020-08-05T12:44:32)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fc3afa-d10d-4239-885f-24e91cbb31a8-2020-08-05T124432.168Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102312/MONDO_0010592)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)