loading...| Preferred Name |
hypohidrotic ectodermal dysplasia |
|
| Synonyms |
anhidrotic ectodermal dysplasia 3 anhidrotic ectodermal dysplasia 1 ectodermal dysplasia 1, Anhydrotic hypohidrotic X-linked ectodermal dysplasia anhidrotic ectodermal dysplasia HED CST syndrome ectodermal dysplasia, hypohidrotic ectodermal dysplasia anhidrotic EDA |
|
| Definitions |
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 |
|
| database_cross_reference |
Orphanet:238468 SCTID:7731005 icd11.foundation:673167184 NCIT:C84562 NANDO:2201005 DOID:14793 GARD:76 HP:0007607 NORD:1272 |
|
| 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). |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_14793 |
|
| has_exact_synonym |
anhidrotic ectodermal dysplasia 3 anhidrotic ectodermal dysplasia 1 ectodermal dysplasia 1, Anhydrotic hypohidrotic X-linked ectodermal dysplasia anhidrotic ectodermal dysplasia HED |
|
| has_related_synonym |
CST syndrome ectodermal dysplasia, hypohidrotic ectodermal dysplasia anhidrotic EDA |
|
| IAO_0000233 | ||
| id |
MONDO:0016535 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
hypohidrotic ectodermal dysplasia |
|
| notation |
MONDO:0016535 |
|
| prefLabel |
hypohidrotic ectodermal dysplasia |
|
| subClassOf |