loading...| Preferred Name |
hypohidrotic ectodermal dysplasia |
|
| Synonyms |
ectodermal dysplasia 1, Anhydrotic anhidrotic ectodermal dysplasia 3 HED anhidrotic ectodermal dysplasia hypohidrotic X-linked ectodermal dysplasia anhidrotic ectodermal dysplasia 1 ectodermal dysplasia, hypohidrotic CST syndrome EDA ectodermal dysplasia anhidrotic |
|
| Definitions |
DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic 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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016535 |
|
| comment |
DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic |
|
| has_exact_synonym |
ectodermal dysplasia 1, Anhydrotic anhidrotic ectodermal dysplasia 3 HED anhidrotic ectodermal dysplasia hypohidrotic X-linked ectodermal dysplasia anhidrotic ectodermal dysplasia 1 |
|
| has_related_synonym |
ectodermal dysplasia, hypohidrotic CST syndrome EDA ectodermal dysplasia anhidrotic |
|
| IAO_0000233 | ||
| label |
hypohidrotic ectodermal dysplasia |
|
| prefixIRI |
MONDO:0016535 |
|
| prefLabel |
hypohidrotic ectodermal dysplasia |
|
| textual definition |
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). |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019287 |