hypohidrotic ectodermal dysplasia

Summary
Definition
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
Super Class
ectodermal dysplasia
Disease Ontology
DOID:14793
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1896 EDA ectodysplasin A
10913 EDAR ectodysplasin A receptor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13607 Eda ectodysplasin-A
13608 Edar ectodysplasin-A receptor
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