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"

2 matching diseasesClear search ×

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

ORPHA:69744

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

ORPHA:308013