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 2 entries
Gene ID Gene Symbol Description Source
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
412 STS steroid sulfatase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
O75342 Arachidonate 12-lipoxygenase, 12R-type
P08842 Steryl-sulfatase

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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