hereditary condition


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Noun1.hereditary condition - a disease or disorder that is inherited geneticallyhereditary condition - 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 ?
Janette's mother Hilda Kramarczyk has dialysis three times a week at the unit due to a hereditary condition, polycystic kidneys.
Helen has traced 300 Scots sufferers of Epidermolysis Bullosa, a hereditary condition that makes skin blister at the slightest touch.
"During breastfeeding, steroids are still the only safe way to control my pain and so depending on how much pain I am in, this will affect how long I am able to breastfeed." Thankfully rheumatoid arthritis is not a hereditary condition.
London, Jan 11 (ANI): The parents of Britain's first baby selected genetically to be free of a breast cancer gene have expressed their joy of having the "beautiful" child - and revealed their plans of having more children free of the hereditary condition.
Doctors told Tal Golesworthy he could drop dead at any time from the rare hereditary condition Marfan Syndrome.
VARICOSE veins are thought to be a hereditary condition in around 70% of cases.
The brothers have the hereditary condition familial juvenile nephrophthisis.
Mr Littlewood suffered from the hereditary condition cardiomyopathy, which has created a thickening of the heart's walls, causing a slowing of his blood leaving the organ.
Then sister Susan and partner Jamie McMillan lost their child Dylan from the same rare hereditary condition. FULL STORY: PAGES 2&3
Only 100 families worldwide have the hereditary condition, X-linked lymphoproliferative disease, which kills 70 per cent of sufferers before they are 10.
Janet, who suffers from a hereditary condition that blinded both her father and brother took to water skiing at 21.
Since she was a teenager, Stacy, 22, had her heart set on joining the police but because of a rare, hereditary condition she suffered cataracts for a decade.

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