ectodermal dysplasia 1

Summary
Synonym
  • CST syndrome
  • Christ-Siemens-Touraine syndrome
  • ED1
  • HED1
  • X-linked anhidrotic ectodermal dysplasia
  • XHED
  • XLHED
  • ectodermal dysplasia 1, anhidrotic
  • ectodermal dysplasia 1, hypohidrotic, X-linked
  • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
  • hypohidrotic ectodermal dysplasia, X-Linked
Definition
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
Super Class
X-linked recessive disease hypohidrotic ectodermal dysplasia
Disease Ontology
DOID:0111664
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1896 EDA ectodysplasin A
Displaying 1 entry
Gene ID Gene Symbol Description Source
13607 Eda ectodysplasin-A
Displaying 1 entry
Gene ID Gene Symbol Description Source
36054 egr eiger

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024