anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
MONDO:0010295Mondo
Findings
No curated finding names anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0010295), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKBKGHGNC:5961
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Also called
- OL-EDA-ID