hypohidrotic ectodermal dysplasia
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).
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
CST syndrome
related
EDA
related
HED
exact
anhidrotic ectodermal dysplasia
exact
anhidrotic ectodermal dysplasia 1
exact
anhidrotic ectodermal dysplasia 3
exact
ectodermal dysplasia 1, Anhydrotic
exact
ectodermal dysplasia anhidrotic
related
ectodermal dysplasia, hypohidrotic
related
hypohidrotic X-linked ectodermal dysplasia
exact