aniridia-Wilms' tumor syndrome

(medicine) The triad of ascites, pleural effusion, and benign ovarian tumor (fibroma).

A rare mitochondrial disease characterized by progressive myoclonic epilepsy and clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged red fibers" when stained.

A genetic disorder affecting the liver, heart, kidney, and other systems.

A rare birth defect characterized by underdevelopment or absence of the pectoralis on one side of the body, and usually also webbing of the fingers of the hand on the same side.

A disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed.

(medicine) A rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.

(medicine) Rupture of the esophageal wall.

Moyamoya disease

mixed connective tissue disease