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X-Linked Hypohidrotic Ectodermal Dysplasia (MONDO:0010585)

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.

Overview

Category

Ontology ID

Internal:11738

Synonyms

Christ-Siemens-Touraine syndrome

X-linked hypohidrotic ectodermal dysplasia

XHED

ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive

hypohidrotic ectodermal dysplasia, X-linked

CST syndrome

Eda1

Xlhed

anhidrotic ectodermal dysplasia X-linked

ectodermal dysplasia 1

ectodermal dysplasia 1, hypohidrotic, X-linked

ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked

ectodermal dysplasia, anhidrotic, X-linked

ectodermal dysplasia, hypohidrotic, 1

hypohidrotic ectodermal dysplasia X-linked

Mapped terms

DOID:0111664

GARD:0010427

MEDGEN:57890

OMIM:305100

Orphanet:181

SCTID:239007005

UMLS:C0162359

icd11.foundation:941793098

Child terms

Unknown children.