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 ×

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190

Arterial duct anomaly

Patent ductus arteriosus anomalies

ORPHA:95485

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

ORPHA:2095