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epidermolysis bullosa simplex Ogna type
Summary
- Synonym
-
- EBS-O
- EBS-Og
- EBSOG
- Definition
- An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
- Super Class
- autosomal dominant disease epidermolysis bullosa simplex
External Links
- Disease Ontology
- DOID:0060736
- 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 |
