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 oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

ORPHA:440221

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

ORPHA:440233

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

ORPHA:98686

Familial congenital palsy of trochlear nerve

ORPHA:91498

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675