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epidermolysis bullosa simplex localized type
Summary
- Synonym
-
- epidermolysis bullosa simplex Weber-Cockayne type
- Definition
- An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.
- Super Class
- autosomal dominant disease epidermolysis bullosa simplex
External Links
- Disease Ontology
- DOID:0080510
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51570 | Galactokinase |
