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anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Uniprot Description A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema.
Mondo Term and Equivalent IDs
MONDO:0010295:  anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
MESH:C564538: 
Orphanet:69088: 
SCTID:720986005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found