Rare Disease Library

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Inherited epidermodysplasia verruciformis

Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis

Landau-Kleffner syndrome

Acquired epileptic aphasia · LKS

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome