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"

5 matching diseasesClear search ×

Pustulosis palmaris et plantaris

LPP · Localized pustular psoriasis

ORPHA:163927

Focal acral hyperkeratosis

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

ORPHA:308013

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

ORPHA:457279

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Pruritic urticarial papules and plaques of pregnancy

Polymorphic eruption of pregnancy · PUPPP

ORPHA:64745