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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"
Agenesis of the superior vena cava
Absence of the superior caval vein · Absence of the superior vena cava
Congenital agenesis of the scrotum
Congenital scrotal agenesis · Congenital absence of the scrotum
Congenital anomaly of superior vena cava
Congenital anomaly of superior caval vein · Congenital anomaly of the SVC
Partial pancreatic agenesis
Congenital pancreatic agenesis · Partial agenesis of the pancreas
Penile agenesis
Aphallia · Penis agenesis
Tracheal agenesis
Tracheal atresia