obsolete_Hypohidrotic ectodermal dysplasia

EDA

ectodermal dysplasia anhidrotic

ectodermal dysplasia, hypohidrotic

CST syndrome

HED

anhidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia

hypohidrotic X-linked ectodermal dysplasia

ectodermal dysplasia 1, Anhydrotic

anhidrotic ectodermal dysplasia 1

anhidrotic ectodermal dysplasia 3

DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic 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).

http://www.orpha.net/ORDO/Orphanet_238468

true

DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic

http://linkedlifedata.com/resource/umls/id/C1706004

http://identifiers.org/snomedct/4826006

Orphanet:238468

SCTID:239007005

NCIT:C84562

ICD10:Q82.4

GARD:0000076

DOID:14793

HP:0007607

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).

true

http://purl.obolibrary.org/obo/DOID_14793

http://identifiers.org/snomedct/239007005

http://www.orpha.net/ORDO/Orphanet_238468

http://purl.obolibrary.org/obo/NCIT_C84562

anhidrotic ectodermal dysplasia 3

anhidrotic ectodermal dysplasia 1

ectodermal dysplasia 1, Anhydrotic

hypohidrotic X-linked ectodermal dysplasia

hypohidrotic ectodermal dysplasia

anhidrotic ectodermal dysplasia

HED

CST syndrome

ectodermal dysplasia, hypohidrotic

ectodermal dysplasia anhidrotic

EDA

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#gard_rare

obsolete_Hypohidrotic ectodermal dysplasia

3.41.0

obsolete_Hypohidrotic ectodermal dysplasia

Replaced with Mondo term.

http://purl.obolibrary.org/obo/MONDO_0016535

http://www.w3.org/2002/07/owl#Thing