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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00586 | Epidermolysis bullosa, junctional | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by ... | Congenital malformation |
(JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244] (JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240] (JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246] (JEB4) COL17A1 [HSA:1308] [KO:K07603] (JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525] (JEB6) ITGA6 [HSA:3655] [KO:K06485] (JEB7) ITGA3 [HSA:3675] [KO:K06482] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |