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Metadata
ID DOID:0060735
Name epidermolysis bullosa simplex Dowling-Meara type
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.
https://www.ncbi.nlm.nih.gov/books/NBK1369/, https://www.ncbi.nlm.nih.gov/pubmed/1372711, https://www.ncbi.nlm.nih.gov/pubmed/1717157, https://www.ncbi.nlm.nih.gov/pubmed/18374450
Xrefs

ICD10CM:Q81.0

OMIM:131760

ORDO:79396

Synonyms

EBS-gen sev [EXACT]

EBSDM [EXACT]

epidermolysis bullosa herpetiformis Dowling-Meara type [EXACT]

epidermolysis bullosa simplex, herpetiformis [EXACT]

generalized severe epidermolysis bullosa simplex [EXACT]

Parent Relationships

is_a epidermolysis bullosa simplex

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