Rare disease

Gaucher's disease fatal familial insomnia Hailey-Hailey disease biotin-responsive basal ganglia disease Bloch-Sulzberger syndrome nodding disease lymphedema Usher syndrome hypopituitarism Wolff-Parkinson-White syndrome Barth syndrome sensorineural hearing loss arterial calcification of infancy ADULT syndrome Netherton syndrome Sheldon-Hall syndrome pseudo-TORCH syndrome Van den Ende-Gupta syndrome congenital heart disease progressive supranuclear palsy chylomicron retention disease McLeod syndrome congenital central hypoventilation syndrome