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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"
Autosomal dominant epidermolytic ichthyosis
BCIE · Bullous congenital ichthyosiform erythroderma
Annular epidermolytic ichthyosis
AEI
Dystrophic epidermolysis bullosa
DEB · Dermolytic epidermolysis bullosa
Epidermolytic nevus
Epidermolytic verrucous epidermal nevus · Epidermolytic epidermal nevus
Epidermolytic palmoplantar keratoderma
Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Focal acral hyperkeratosis
Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis
Superficial epidermolytic ichthyosis
Ichthyosis bullosa of Siemens · SEI