genetic abnormality

1. A disease or disorder that is inherited genetically (synset 114174621)
   is a type of: disease - an impairment of health or a condition of abnormal functioning
   subtypes:

   • monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
   • polygenic disease, polygenic disorder - an inherited disease controlled by several genes at once
   • achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
   • abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
   • inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
   • congenital megacolon, hirschsprung's disease - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
   • 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
   • hyperbetalipoproteinemia - a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
   • ichthyosis - any of several congenital diseases in which the skin is dry and scaly like a fish
   • branched chain ketoaciduria, maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
   • mcardle's disease - an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
   • dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
   • oligodactyly - congenital condition in which some fingers or toes are missing
   • oligodontia - congenital condition in which some of the teeth are missing
   • otosclerosis - hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
   • autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
   • autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
   • congenital pancytopenia, fanconi's anaemia, fanconi's anemia - a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
   • juvenile amaurotic idiocy, spielmeyer-vogt disease - a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
   • congenital afibrinogenemia - a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
   • albers-schonberg disease, marble bones disease, osteopetrosis - an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
   • nevoid elephantiasis, pachyderma - thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
   • dwarfism, nanism - a genetic abnormality resulting in short stature
   • lactase deficiency, lactose intolerance, milk intolerance - congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
   • porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
   • hepatolenticular degeneration, wilson's disease - a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
   same as: congenital disease, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder

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