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"

8 matching diseasesClear search ×

Worster-Drought syndrome

Congenital suprabulbar paresis

ORPHA:3465

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

ORPHA:2805