hereditary disease


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hereditary disease

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Noun1.hereditary disease - a disease or disorder that is inherited geneticallyhereditary 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 classic literature ?
And let us, my brethren who have not our names in the Red Book, console ourselves by thinking comfortably how miserable our betters may be, and that Damocles, who sits on satin cushions and is served on gold plate, has an awful sword hanging over his head in the shape of a bailiff, or an hereditary disease, or a family secret, which peeps out every now and then from the embroidered arras in a ghastly manner, and will be sure to drop one day or the other in the right place.
Yes, as a threatened man may look fearfully at his own face in the glass, formulating to himself reassuring excuses for his appearance marked by the taint of some insidious hereditary disease.
But hereditary diseases and some other facts make me believe that the rule has a wider extension, and that when there is no apparent reason why a peculiarity should appear at any particular age, yet that it does tend to appear in the offspring at the same period at which it first appeared in the parent.
Lipinski serves as a scientific advisor to the Global Alliance for TB Drug Development, Melior Discovery, and the Matrical Company and is a consultant for the Hereditary Disease Foundation.
Developed to support Huntington's Disease (HD) research funded by the Hereditary Disease Foundation (HDF) based in California, the NeuMetrix Data Repository will help researchers from around the world better identify new therapeutic targets to treat HD.
They could be winners if they find they are not prone to a hereditary disease, but might lose out if they are found to be heading for an illness.
More than one million persons worldwide are affected by the hereditary disease, Retinitis Pigmentosa (RP), in which the light-sensitive cells of the retina slowly degenerate and die.
The Queen's cousin, Prince William of Gloucester who was killed in an air crash in 1972, suffered from the hereditary disease porphyria.
The Hereditary Disease Foundation is carrying out this new collaborative partnership in honor of the late Professor Max Perutz.
DYSTROPHIC Epidermolysis Bullosa is a hereditary disease characterised by severe blistering and shearing of the skin.
This particular treatment, whichwould be a preventive measure rather than a cure, is limited to the hereditary disease, according to Crystal.
For the first time in Phase 3 studies, blocking IL-1 with IL-1 Trap demonstrated a significant effect on relieving the symptoms of patients suffering from this serious, life-long hereditary disease that produces recurring symptoms such as fever, rash, joint pain, fatigue and eye redness or pain," said Leonard S.

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