Rare Disease Library

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

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

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 dominant intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

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

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Intermediate generalized junctional epidermolysis bullosa

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