(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 form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female, sometimes leading to tall stature, learning disabilities, and/or epicanthic folds.

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

An inherited disease characterized by short stature, facial abnormalities, and skeletal and genital anomalies.

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 lesion of the pons, leading to diplopia, strabismus, and contralateral hemiplegia of the extremities.

(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.