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"

64 matching diseasesClear search ×

Rare parasitic disease

ORPHA:163588

Rare parathyroid disease and phosphocalcic metabolism anomaly

ORPHA:68415

Rare pediatric systemic disease

ORPHA:280373

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Rare respiratory disease

ORPHA:97955

Rare rheumatologic disease

ORPHA:182231

Rare skin disease

ORPHA:89826

Rare surgical thoracic disease

ORPHA:97962

Rare systemic disease

ORPHA:182222

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare thyroid disease

ORPHA:101955

Rare urogenital disease

ORPHA:101433

Rare vascular disease

ORPHA:68362

Rare viral disease

ORPHA:163585