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Entry Name Description Category Pathway Gene
H00587 Epidermolysis bullosa, dystrophica Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation ... Congenital malformation COL7A1 [HSA:1294] [KO:K16628]
H00763 Transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation ... Congenital malformation COL7A1 [HSA:1294] [KO:K16628]
H01307 Nonsyndromic congenital nail disorder ... cause hypoplastic nail disorders. Hereditary leukonychia is caused by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending from simple toe-nail dystrophy without skin ... Skin disease (NDNC1) FZD6 [HSA:8323] [KO:K02376]
(NDNC3) PLCD1 [HSA:5333] [KO:K05857]
(NDNC4) RSPO4 [HSA:343637] [KO:K23099]
(NDNC8) COL7A1 [HSA:1294] [KO:K16628]
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