Rare Disease Library

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Intermediate generalized junctional epidermolysis bullosa

Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB