Contains

• monogenic disorder

  An inherited disease controlled by a single pair of genes.

• dystrophy

  Any of several hereditary diseases of the muscular system characterized by weakness and...

• autosomal recessive disease

  A disease caused by the presence of two recessive mutant genes on an...

• autosomal dominant disease

  A disease caused by a dominant mutant gene on an autosome.

• inborn error of metabolism

  Any of a number of diseases in which an inherited defect (usually a missing...

• mucopolysaccharidosis

  Any of a group of genetic disorders involving a defect in the metabolism of...

• ichthyosis

  Any of several congenital diseases in which the skin is dry and scaly like a fish.

• dwarfism

  A genetic abnormality resulting in short stature.

• polygenic disorder

  An inherited disease controlled by several genes at once.

• abetalipoproteinemia

  A rare inherited disorder of fat metabolism; characterized by severe deficiency...

• hyperbetalipoproteinemia

  A genetic disorder characterized by high levels of beta-lipoproteins and...

• osteopetrosis

  An inherited disorder characterized by an increase in bone density; in severe forms...

• lactose intolerance

  Congenital disorder consisting of an inability to digest milk and milk products;...

• maple syrup urine disease

  An inherited disorder of metabolism in which the urine has a odor characteristic...

• porphyria

  A genetic abnormality of metabolism causing abdominal pains and mental confusion.

• McArdle's disease

  An inherited disease in which abnormal amounts of glycogen accumulate in skeletal...

• oligodontia

  Congenital condition in which some of the teeth are missing.

• oligodactyly

  Congenital condition in which some fingers or toes are missing.

• otosclerosis

  Hereditary disorder in which ossification of the labyrinth of the inner ear causes...

• achondroplasia

  An inherited skeletal disorder beginning before birth; cartilage is converted to...

• hepatolenticular degeneration

  A rare inherited disorder of copper metabolism; copper accumulates...

• Fanconi's anemia

  A rare congenital anemia characterized by pancytopenia and hypoplasia of the bone...

• nevoid elephantiasis

  Thickening of the skin (usually unilateral on an extremity) caused by congenital...

• Spielmeyer-Vogt disease

  A congenital progressive disorder of lipid metabolism having an onset at...

• congenital afibrinogenemia

  A rare congenital disorder of blood coagulation in which no fibrinogen...

• Hirschsprung's disease

  Congenital condition in which the colon does not have the normal network...