OBO ID: DOID:0060735
Term Name: epidermolysis bullosa simplex Dowling-Meara type Search Ontology:
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:
OTHER epidermolysis bullosa simplex Dowling-Meara type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRT14 Epidermolysis bullosa simplex 1A, generalized severe
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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