Search Ontology:
Human Disease

epidermolysis bullosa simplex 1C

Term ID
DOID:0080510
Synonyms
  • epidermolysis bullosa simplex localized type
  • epidermolysis bullosa simplex Weber-Cockayne type
Definition
An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21. (2)
References
Ontology
Human Disease   ( DOID:0080510 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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