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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"
Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Arterial duct anomaly
Patent ductus arteriosus anomalies
Feingold syndrome
Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
Feingold syndrome type 1
Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
Feingold syndrome type 2
Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome