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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"
Kousseff syndrome
Sacral meningocele-conotruncal heart defects syndrome
Heart defects-limb shortening syndrome
Lateral meningocele syndrome
Lehman syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome
Structural heart defects-renal anomalies syndrome
Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome