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
Disease Ontology
DOID:0050467
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14609 Gja1 gap junction protein, alpha 1

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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: December 9, 2024