Disease Directory

Congenital stationary night blindness 1C is a non-progressive vision disorder characterized by difficulties in seeing in low-light conditions and redu...

Congenital stationary night blindness 1D is an inherited condition that primarily affects the eyes and impairs the ability to see in low-light conditi...

Congenital stationary night blindness 1E is an inherited retinal condition that primarily affects night vision from birth. It is caused by mutations i...

Congenital stationary night blindness 1F is a non-progressive retinal condition that primarily affects the ability to see in low light. It is caused b...

Congenital stationary night blindness 1G is an inherited disorder affecting the retina, characterized primarily by difficulties with night vision and...

Congenital stationary night blindness 1H is a vision disorder that primarily affects the ability to see in low-light conditions from birth. It is caus...

Congenital stationary night blindness 2A is a visual disorder caused by a mutation in the CACNA1F gene. This condition primarily affects the retinal f...

Congenital stationary night blindness autosomal dominant 1 is a non-progressive eye condition characterized by difficulty seeing in low-light environm...

Congenital stationary night blindness autosomal dominant 2 is an inherited eye condition marked by difficulties seeing in low light and moderate nears...

Congenital stationary night blindness autosomal dominant 3 is a non-progressive vision disorder that primarily affects the ability to see in low-light...

Congenital stenosis of the inferior vena cava is a condition present from birth that involves a narrowing of the major vein responsible for returning...

Congenital stromal corneal dystrophy is an extremely rare disorder of the cornea, characterized by opaque, flaky, or feathery clouding of the stromal...

Congenital structural myopathy, also known as centronuclear myopathy, is a group of genetic muscle disorders characterized by low muscle tone, muscle...

Congenital subglottic stenosis is a condition characterized by a narrowing of the airway just below the vocal cords that is present at birth. Because...

Congenital sucrase-isomaltase deficiency is a disorder of carbohydrate absorption that affects the digestive system. It results from mutations in the...

Congenital sucrase-isomaltase deficiency with minimal starch tolerance is a condition affecting the digestive system, where individuals have difficult...

Congenital sucrase-isomaltase deficiency with starch and lactose intolerance is a digestive condition in which the body has difficulty breaking down c...

Congenital sucrase-isomaltase deficiency with starch intolerance is a congenital disorder affecting the digestive system. The condition is characteriz...

Congenital sucrase-isomaltase deficiency without starch intolerance is a condition that affects the gastrointestinal system by impairing the digestion...

Congenital sucrase-isomaltase deficiency without sucrose intolerance is a condition that affects the digestion of carbohydrates due to an enzyme defic...