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epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.
Mondo Term and Equivalent IDs
MONDO:0007557:  epidermolysis bullosa with congenital localized absence of skin and deformity of nails
DOID:0111347: 
MESH:C562638: 
SCTID:2689001: