Definition that contains genetic disorder
- mucopolysaccharidosis any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
- angiohemophilia a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
- pku a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
- genetic counseling guidance for prospective parents on the likelihood of genetic disorders in their future children
- vascular hemophilia a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
- hyperbetalipoproteinemia a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
- von willebrand's disease a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
- phenylketonuria a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency