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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"
Congenital trochlear nerve palsy
Congenital superior oblique palsy · Congenital CNIV palsy
Congenital abducens nerve palsy
Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy
Congenital anomaly of superior vena cava
Congenital anomaly of superior caval vein · Congenital anomaly of the SVC
Congenital laryngeal palsy
Congenital vocal cord paralysis
Congenital oculomotor nerve palsy
Congenital CNIII lesion · Congenital third cranial nerve palsy
Hereditary pulmonary alveolar proteinosis
Congenital PAP · Congenital pulmonary alveolar proteinosis