genetic disease


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Noun1.genetic disease - a disease or disorder that is inherited geneticallygenetic disease - 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 ?
Genetic Disease Center was established in 1979 which helped with development
This test allows couples who are at risk to have children with genetic disease to undergo embryo testing during an in vitro fertilization (IVF) cycle in order to conceive a pregnancy free of the genetic disease.
I don't know of any unemployed genetic counselors who want to be employed,'' said Mindi Lassman, chief of the prenatal screening section of the genetic disease branch of the California Department of Health Services.
By adding immunity-type screening to tests for genetic disease, he says, "we're moving to selection on the basis of a trait that is of no benefit to the child to be born.
The movie centers on the real-life efforts of the Crowleys, a family trying to find a cure for a rare genetic disease affecting two of the family's three children.
Vivaldi has worked to identify the unmet needs of those living with rare genetic diseases, such as Gaucher disease," said Elisa Ross, President of the Genetic Disease Foundation (GDF).
Education and awareness campaigns have helped Bahrain achieve a 70 per cent drop in cases in the last 25 years and the genetic disease now accounts for only 0.
Washington, June 11 (ANI): For the first time, researchers have proven that it is possible to identify any genetic disease in record time, all thanks to a powerful and reliable exome sequencing method.
DIFC Hosts Blood Donation CampaignCo Clinic offers testing for genetic disease Thalassaemia
16, 2005 Journal of the American Medical Association, Hahn's team showed that separating circulating DNA on the basis of size could provide a new way to test for genetic disease in a fetus.
This is used where a couple fears passing on an incurable genetic disease to a child.
Future phases of the collaboration will center on the development of analytical tools to support molecular models of genetic disease to identify the commonalities of complex genetic disorders.