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epidermolytic hyperkeratosis 1
Summary
- Definition
- An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
- Super Class
- autosomal dominant disease epidermolytic hyperkeratosis
External Links
- Disease Ontology
- DOID:0081358
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04264 | Keratin, type II cytoskeletal 1 |
