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epidermolysis bullosa simplex with mottled pigmentation
Summary
- Synonym
-
- EBSMP
- Epidermolysis bullosa simplex-MP
- speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
- Definition
- An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.
- Super Class
- autosomal dominant disease epidermolysis bullosa simplex
External Links
- Disease Ontology
- DOID:0111346
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
