Rare Disease Library

Intermediate generalized junctional epidermolysis bullosa

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

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Intermediate uveitis

IU

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H