Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
epidermolytic hyperkeratosis

Summary
Synonym
  • Bullous ichthyosiform erythroderma
  • Epidermolytic palmoplantar hyperkeratosis
  • epidermolytic ichthyosis
Definition
An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.
Super Class
ichthyosis
Disease Ontology
DOID:4603
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3728 JUP junction plakoglobin
3848 KRT1 keratin 1
3858 KRT10 keratin 10
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16480 Jup junction plakoglobin
16678 Krt1 keratin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
81679 Jup junction plakoglobin
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 v4.1.0

Last updated: December 9, 2024