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 ×

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

ORPHA:46627

Arterial duct anomaly

Patent ductus arteriosus anomalies

ORPHA:95485