von Willebrand disease
Pronunciation: von vil'en-brahnd
Definition: a hemorrhagic diathesis characterized by tendency to bleed primarily from mucous membranes, prolonged bleeding time, normal platelet count, normal clot retraction, partial and variable deficiency of factor VIIIR, and possibly a morphologic defect of platelets; autosomal dominant inheritance with reduced penetrance and variable expressivity, caused by mutation in the von Willebrand factor gene (VWF) on 12p. Type III von Willebrand disease is a more severe disorder with markedly reduced factor VIIIR levels. There is a recessive version of this disease [MIM*277480], which has the remarkable property that it represents a mutation at the same locus as the dominant form.
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Examples: glitazone, GI cocktail, etc.