Disease-gene associations mined from literature

Human genes for junctional epidermolysis bullosa non-Herlitz type

Junctional epidermolysis bullosa non-Herlitz type [DOID:0060738]

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.

Synonyms:  junctional epidermolysis bullosa non-Herlitz type,  DOID:0060738,  junctional epidermolysis bullosa nonHerlitz type,  junctional epidermolysis bullosa non-Herlitz types,  GABEB ...