|OBO ID: DOID:0060737|
|Term Name:||junctional epidermolysis bullosa Herlitz type||Search Ontology:|
|Definition:||A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (3)|
|Ontology:||Human Disease (DOID:0060737)|
|is a type of:||
OTHER junctional epidermolysis bullosa Herlitz type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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