Rare Disease Library

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

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

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Generalized isolated dystonia

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Hydrops fetalis

Fetal anasarca · Fetal hydrops

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS