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 ?
The inspirational 49-year-old has a rare hereditary condition called Alport Syndrome and has lost three of his brothers to the same condition.
She's also aiming to raise awareness about the hereditary condition which affects around 70,000 people in the UK.
Alas, the boy forgets his inhaler, which he needs to puff every 24 hours to stave off a mysterious hereditary condition.
USA], July 10 (ANI): A recent research could offer hope to the thousands of, mainly young, people affected by the hereditary condition Neurofibromatosis 2 (NF2).
The hereditary condition, in which patients develop sickle-shaped blood cells, is incurable and can cause severe pain among sufferers when the cells block veins - leading to symptoms known as a crisis.
Ava, of Lochgelly, has a hereditary condition which means her marrow has failed and she needs a stem cell transplant to survive.
Mark, a member of the British Sub-Aqua Club for 26 years, said: "Stargardt's is a hereditary condition brought on by a faulty gene.
Juvenile diabetes is a hereditary condition where the pancreas does not secrete insulin from birth.
More than 70,000 people are living with muscular dystrophy in the UK and the hereditary condition causes weakening and wasting of the muscles.
However, a recent study conducted found that people with a cleft lip/palate condition were unaware of it as a hereditary condition and the increased risk of passing it along to their children.
When he was young Daniel was diagnosed with Pigmentosa, a hereditary condition that causes a gradual loss of vision.
I suffered a twisted femur, a hereditary condition, when I was pregnant and had to have numerous operations.

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