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"

3 matching diseasesClear search ×

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

ORPHA:79411

Transient hyperammonemia of the newborn

ORPHA:289877

Transient tyrosinemia of the newborn

Transient tyrosinemia of the neonate

ORPHA:3402