DISEASES

Disease-gene associations mined from literature

Human genes for epidermolysis bullosa

Epidermolysis bullosa [DOID:2730]

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene.

Synonyms:  epidermolysis bullosa,  DOID:2730,  Epidermolysis bullosa (disorder),  acantholysis bullosa,  Epidermolysis bullosa disorder ...

Linkouts:  OMIM #1 #2 #3