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 ×

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

ORPHA:293208

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

ORPHA:2697

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250