英语词汇“genetic disorder”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

WORD FAMILY

genetic disorder: genetic disorders

USAGE EXAMPLES

Regulators approved the company’s drug Spinraza, a treatment for a rare genetic disorder that causes progressive muscle weakness.

Seattle Times(Dec 27, 2016)

NEW DRUG: Biogen rose 2.3 percent on news that the Federal Drug Administration approved the company’s treatment for spinal muscular atrophy, a rare genetic disorder.

Washington Times(Dec 27, 2016)

NEW DRUG: Biogen rose 2.5 percent on news that the Federal Drug Administration approved the company’s treatment for spinal muscular atrophy, a rare genetic disorder.

Seattle Times(Dec 27, 2016)

n a disease or disorder that is inherited genetically

Syn|Hypo|Hyper

congenital disease, genetic abnormality, genetic defect, genetic disease, hereditary condition, hereditary disease, inherited disease, inherited disorder

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

Hirschsprung's disease, congenital megacolon

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

Fanconi's anaemia, Fanconi's anemia, congenital pancytopenia

a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

Spielmeyer-Vogt disease, juvenile amaurotic idiocy

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

Wilson's disease, hepatolenticular degeneration

a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

diabetes

a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst

SCID, severe combined immunodeficiency, severe combined immunodeficiency disease

a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life

CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis

the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known

galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

Gaucher's disease

a rare chronic disorder of lipid metabolism of genetic origin

Huntington's chorea, Huntington's disease

hereditary disease; develops in adulthood and ends in dementia

Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophy

hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

malignant hyperthermia

hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity

Marfan's syndrome

an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system

neurofibromatosis, von Recklinghausen's disease

autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

osteogenesis imperfecta

autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily

Becker muscular dystrophy

a form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males)

distal muscular dystrophy

a form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant

Duchenne's muscular dystrophy, pseudohypertrophic dystrophy

the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males)

limb-girdle muscular dystrophy

an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages

lysinemia

an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation

Steinert's disease, myotonia atrophica, myotonic dystrophy, myotonic muscular dystrophy

a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant

oculopharyngeal muscular dystrophy

a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant

Niemann-Pick disease

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease

a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape

Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy

a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

thrombasthenia

a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results

tyrosinemia

autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

Werdnig-Hoffman disease

autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood

Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia

an inherited form of anemia caused by faulty synthesis of hemoglobin

familial hypercholesterolemia

congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

pycnodysostosis

a form of dwarfism accompanied by fragile bones and bad teeth

PKU, 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

xeroderma, xerodermia

a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin

disease

an impairment of health or a condition of abnormal functioning

单词	genetic disorder
释义	genetic disorder (once / 74336 pages) n WORD FAMILY genetic disorder: genetic disorders USAGE EXAMPLES Regulators approved the company’s drug Spinraza, a treatment for a rare genetic disorder that causes progressive muscle weakness. Seattle Times(Dec 27, 2016) NEW DRUG: Biogen rose 2.3 percent on news that the Federal Drug Administration approved the company’s treatment for spinal muscular atrophy, a rare genetic disorder. Washington Times(Dec 27, 2016) NEW DRUG: Biogen rose 2.5 percent on news that the Federal Drug Administration approved the company’s treatment for spinal muscular atrophy, a rare genetic disorder. Seattle Times(Dec 27, 2016) n a disease or disorder that is inherited genetically Syn\|Hypo\|Hyper congenital disease, genetic abnormality, genetic defect, genetic disease, hereditary condition, hereditary disease, inherited disease, inherited disorder 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 Hirschsprung's disease, congenital megacolon 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 Fanconi's anaemia, Fanconi's anemia, congenital pancytopenia a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow Spielmeyer-Vogt disease, juvenile amaurotic idiocy 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 Wilson's disease, hepatolenticular degeneration a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain diabetes a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst SCID, severe combined immunodeficiency, severe combined immunodeficiency disease a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known galactosemia a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth Gaucher's disease a rare chronic disorder of lipid metabolism of genetic origin Huntington's chorea, Huntington's disease hereditary disease; develops in adulthood and ends in dementia Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophy hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation malignant hyperthermia hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity Marfan's syndrome an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system neurofibromatosis, von Recklinghausen's disease autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities osteogenesis imperfecta autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily Becker muscular dystrophy a form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males) distal muscular dystrophy a form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant Duchenne's muscular dystrophy, pseudohypertrophic dystrophy the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males) limb-girdle muscular dystrophy an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages lysinemia an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation Steinert's disease, myotonia atrophica, myotonic dystrophy, myotonic muscular dystrophy a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant oculopharyngeal muscular dystrophy a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant Niemann-Pick disease a disorder of lipid metabolism that is inherited as an autosomal recessive trait crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood thrombasthenia a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation Werdnig-Hoffman disease autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia an inherited form of anemia caused by faulty synthesis of hemoglobin familial hypercholesterolemia congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis pycnodysostosis a form of dwarfism accompanied by fragile bones and bad teeth PKU, 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 xeroderma, xerodermia a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin disease an impairment of health or a condition of abnormal functioning
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