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"

7 matching diseasesClear search ×

Epidermolytic nevus

Epidermolytic verrucous epidermal nevus · Epidermolytic epidermal nevus

ORPHA:497737

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

ORPHA:312

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

ORPHA:64755

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Epidermal nevus syndrome

Epidermal hamartoma syndrome

ORPHA:35125

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

SJS-TEN · Epidermal necrolysis

ORPHA:95455

Toxic epidermal necrolysis

Lyell syndrome

ORPHA:537