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epidermolysis bullosa simplex Dowling-Meara type
Summary
- Synonym
-
- EBS-gen sev
- EBSDM
- epidermolysis bullosa herpetiformis Dowling-Meara type
- epidermolysis bullosa simplex, herpetiformis
- generalized severe epidermolysis bullosa simplex
- Definition
- An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
- Super Class
- autosomal dominant disease epidermolysis bullosa simplex
External Links
- Disease Ontology
- DOID:0060735
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60568 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 |
