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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06136 | 3-ketodihydrosphingosine reductase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 |
