# anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

> This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia

**Wikidata**: [Q55782438](https://www.wikidata.org/wiki/Q55782438)  
**Source**: https://4ort.xyz/entity/anhidrotic-ectodermal-dysplasia-immunodeficiency-osteopetrosis-lymphedema-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000269335/Orphanet_69088)
5. UMLS 2023