epidermolysis bullosa

Summary
Synonym
  • acantholysis bullosa
Definition
A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
Super Class
vesiculobullous skin disease
External Links
Disease Ontology
DOID:2730
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
3339 HSPG2 heparan sulfate proteoglycan 2
6383 SDC2 syndecan 2
8985 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
27087 B3GAT1 beta-1,3-glucuronyltransferase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024