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 ×

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

ORPHA:829

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974