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DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
Disease 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.
Synonyms: GABEB, JEB-nH gen, JEN-nH, generalized atrophic benign epidermolysis bullosa, generalized junctional epidermolysis bullosa, non-Herlitz type, junctional epidermolysis bullosa generalisata mitis, junctional epidermolysis bullosa, Disentis type,
Xenbase Genes : lamb3, lama3, lamc2, itgb4, col17a1
MONDO:0019307 - generalized junctional epidermolysis bullosa non-Herlitz type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee