Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

6 matching diseasesClear search ×

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

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

ORPHA:89842

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

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

ORPHA:79399

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

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

ORPHA:79408

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

ORPHA:646113

Intermediate generalized junctional epidermolysis bullosa

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

ORPHA:79402