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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
External Links
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
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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

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Last updated: August 19, 2024