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Standards Ontologies Notations
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
Disease Ontology
DOID:2121
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3872 KRT17 keratin 17
5818 NECTIN1 nectin cell adhesion molecule 1
80326 WNT10A Wnt family member 10A
Displaying all 4 entries
Gene ID Gene Symbol Description Source
14623 Gjb6 gap junction protein, beta 6
18772 Pkp1 plakophilin 1
22409 Wnt10a wingless-type MMTV integration site family, member 10A
58235 Nectin1 nectin cell adhesion molecule 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
192183 Nectin1 nectin cell adhesion molecule 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
171994 lin-44 Abnormal cell lineage protein 44
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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