Definition of genetic abnormality Genetic abnormality
We found 1 definitions of genetic abnormality from 1 different sources.
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What does genetic abnormality mean?
WordNet
Noun |
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| genetic abnormality - a disease or disorder that is inherited genetically | ||
| genetic disease, genetic disorder, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition | ||
| disease an impairment of health or a condition of abnormal functioning | ||
| 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 | ||
| muscular dystrophy, 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 | ||
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