In DiGeorge Syndrome, a disease characterized by the failure of the third and fourth pharyngeal pouches to develop, the parathyroid glands do not form and there is thus a lack of PTH.

The eponymous "Bamberger's disease" is named after him, characterized by spasmodic affections of the leg muscles.

This work was responsible for creating the classification of fetal alcohol syndrome; a disease characterized by common morphogenesis aberrations such as defects in craniofacial formation, limb development, and cardiovascular formation.

The overproduction of male steroid hormones (androgens) at the same time as cortisol and aldosterone are underproduced characterizes the difference between Addison?s disease and CAH.

The disease is usually self-limiting, and characterized by nausea, forceful vomiting, watery diarrhea, and abdominal pain, and in some cases, loss of taste.

Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance.

The alpha toxin produced by C. septicum is the underlying cause of gas gangrene, otherwise known as myonecrosis; a disease characterized by extensive tissue destruction, edema, thrombosis, and fluid-filled bullae.

Background Type 1 diabetes mellitus (T1DM) is a T cell-mediated autoimmune disease characterized by lymphocytic infiltration of the pancreatic islets of Langerhans with subsequent destruction of the insulin-producing beta cells [ 1 ] .

A rare fulminant disease of the liver, of unknown cause, characterized by massive deposition of iron in the liver, pancreas, heart, and endocrine glands; symptoms are those of neonatal hepatitis and appear in utero or within the first week of life, with death usually occurring by 4 months of age.