Search Ontology:
Human Disease

generalized severe epidermolysis bullosa simplex 1A

Term ID
DOID:0060735
Synonyms
  • EBS-gen sev
  • EBSDM
  • epidermolysis bullosa herpetiformis Dowling-Meara type
  • epidermolysis bullosa simplex 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 the Keratin 14 (KRT14) gene on chromosome 17q21 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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.