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"

6 matching diseasesClear search ×

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

ORPHA:98686

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

ORPHA:440233

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

ORPHA:95498

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

ORPHA:440221

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675