Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

The presence of chronic increased pressure in the systemic arterial system.

Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.

Thickening of the heart walls in both ventricles.

A defect of the atrioventricular septum of the heart.

Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

A deficiency or slowing down of growth pre- and postnatally.

Accumulation of fluid in the peritoneal cavity.

Impairment of bile flow due to obstruction in bile ducts.

Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.

Abnormally increased size of the liver.

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.

Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.

The enteric villi are atrophic or absent.

The presence of a rash (change of color and texture) of the perianal skin.

Steatosis is a term used to denote lipid accumulation within hepatocytes.

An increased amount of calprotectin in the feces.

A type of anemia caused by premature destruction of red blood cells (hemolysis).

A reduction in the number of circulating thrombocytes.

The presence of an excessive amount of fluid in the pleural cavity.

An autoimmune form of hemolytic anemia.

A reduced number of lymphocytes in the blood.

Systemic inflammatory response to infection.

Enlarged lymph nodes in the neck.

An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.

Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.

Persistent presence of Epstein-Barr virus in the blood.

Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.

An unusually severe infection by cytomegalovirus.

A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.

The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.

The presence of circulating IgG autoantibodies to cardiolipin.

An abnormally decreased potassium concentration in the blood.

An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.

An abnormal increase in the level of triglycerides in the blood.

Periodic (episodic or recurrent) bouts of fever.

An abnormal elevation of the C-reactive protein level in the blood circulation.

Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.

Diminished amniotic fluid volume in pregnancy.

The presence of nipples that instead of pointing outward are retracted inwards.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).