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Human Disease

epidermolysis bullosa simplex Dowling-Meara type

Term ID
DOID:0060735
Synonyms
  • 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. (4)
References
Ontology
Human Disease   ( DOID:0060735 )
Relationships
is a type of
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Genes Involved
Zebrafish Models