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hypohidrotic ectodermal dysplasia

Disease Summary
Associated Targets (8)
Tbio

7

Tchem

1


Explore Associated Targets
Mondo Description Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
Disease Ontology Description An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
Mondo Term and Equivalent IDs
MONDO:0016535:  hypohidrotic ectodermal dysplasia
GARD:0000076: 
NCIT:C84562: 
Orphanet:238468: 
SCTID:239007005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)