ectodermal dysplasia

Summary
Synonym
  • Congenital ectodermal defect
  • Congenital ectodermal dysplasia
Definition
A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Super Class
syndrome
External Links
Disease Ontology
DOID:2121
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
952 CD38 CD38 molecule
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P28907 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1

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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: August 19, 2024