Term Name: | junctional epidermolysis bullosa non-Herlitz type |
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Synonyms: | GABEB, generalized atrophic benign epidermolysis bullosa, generalized junctional epidermolysis bullosa, non-Herlitz type, JEB-nH gen, JEN-nH, junctional epidermolysis bullosa generalisata mitis, junctional epidermolysis bullosa, Disentis type |
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. |
Ontology: | Human Disease [DOID:0060738] ( DOID:0060738 ) |