erythrokeratodermia variabilis

Summary
Synonym
  • Erythrokeratodermia Figurata Variabilis
  • Greither Disease
Definition
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Super Class
monogenic disease skin disease
External Links
Disease Ontology
DOID:0050467
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2531 KDSR 3-ketodihydrosphingosine reductase
6785 ELOVL4 ELOVL fatty acid elongase 4
Related Glycoprotein

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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