genetic disorder

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Related to Hereditary disorder: hereditary disease

genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
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Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic disorder - a disease or disorder that is inherited genetically
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
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
References in periodicals archive ?
MASCOTS promoting awareness of an hereditary disorder are travelling the world - from Niagara Falls to the Vatican.
The scientists investigated the Miller-Dieker syndrome, a hereditary disorder attributed to a chromosome defect.
The questionnaire consisted of two main parts; the first part was based on sociodemographic data and the second part dealt with the students' knowledge about the hereditary disorder in premarital screening program.
SUKKUR -- Thalassemia was a major genetic and hereditary disorder in public health in Pakistan and around 6000 new patients were preying victim to the desease every year in the country, said Dr Javed Shaikh, Member Faculty of Mahar Medical College (MMC), Sukkur.
Is this a hereditary disorder that passes down to every subsequent generation?
He says he can not travel long distances since suffering life-threatening blood clots, caused by a hereditary disorder, following a flight to Spain 14 years ago.
Sickle cell anaemia is a hereditary disorder that is characterised by abnormal blood cells which have a tendency to take on a rigid, sickle-like shape.
A CADASIL is a hereditary disorder in which a thickening of the walls of blood vessels in the brain's white matter restricts blood flow to certain brain regions and causes stroke and tissue death.
Multiple osteochondromas represent an autosomal dominant hereditary disorder and are associated with bony deformities.
It is a process in which patients or their relatives at risk for a hereditary disorder such as cancer are advised of the consequences of the disorder, the probability of developing or transmitting it, and ways to prevent or ameliorate the disorder.
Amelogenesis imperfecta is a hereditary disorder that affects the enamel of the dental enamel structure.
Mauro began studying his disorder and said there are 30 types of ataxia, including some common in elderly folks, who have difficulty with balance or coordination, and a hereditary disorder that strikes children.

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