|OBO ID: DOID:0060738|
|Term Name:||junctional epidermolysis bullosa non-Herlitz type||Search Ontology:|
|Definition:||A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (5)|
|Ontology:||Human Disease (DOID:0060738)|
|is a type of:||
OTHER junctional epidermolysis bullosa non-Herlitz type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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