Topic Navigator

• monogenic disorder, monogenic disease go
  an inherited disease controlled by a single pair of genes
  
• polygenic disorder, polygenic disease go
  an inherited disease controlled by several genes at once
  
• achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy go
  an inherited skeletal disorder beginning before birth
  
• abetalipoproteinemia go
  a rare inherited disorder of fat metabolism
  
• inborn error of metabolism go
  any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
  
• Hirschsprung's disease, congenital megacolon go
  congenital condition in which the colon does not have the normal network of nerves
  
• mucopolysaccharidosis go
  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
  
• hyperbetalipoproteinemia go
  a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol
  
• ichthyosis go
  any of several congenital diseases in which the skin is dry and scaly like a fish
  
• maple syrup urine disease, branched chain ketoaciduria go
  an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup
  
• McArdle's disease go
  an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle
  
• dystrophy, muscular dystrophy go
  any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
  
• oligodactyly go
  congenital condition in which some fingers or toes are missing
  
• oligodontia go
  congenital condition in which some of the teeth are missing
  
• otosclerosis go
  hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
  
• autosomal dominant disease, autosomal dominant disorder go
  a disease caused by a dominant mutant gene on an autosome
  
• autosomal recessive disease, autosomal recessive defect go
  a disease caused by the presence of two recessive mutant genes on an autosome
  
• Fanconi's anemia, Fanconi's anaemia, congenital pancytopenia go
  a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
  
• Spielmeyer-Vogt disease, juvenile amaurotic idiocy go
  a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
  
• congenital afibrinogenemia go
  a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
  
• osteopetrosis, Albers-Schonberg disease, marble bones disease go
  an inherited disorder characterized by an increase in bone density
  
• nevoid elephantiasis, pachyderma go
  thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
  
• dwarfism, nanism go
  a genetic abnormality resulting in short stature
  
• lactose intolerance, lactase deficiency, milk intolerance go
  congenital disorder consisting of an inability to digest milk and milk products
  
• porphyria go
  a genetic abnormality of metabolism causing abdominal pains and mental confusion
  
• hepatolenticular degeneration, Wilson's disease go
  a rare inherited disorder of copper metabolism