inherited disorder


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Noun1.inherited disorder - a disease or disorder that is inherited geneticallyinherited 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 ?
It is worthwhile to mention that Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain and other tissues.
Homocystinuria is an inherited disorder that prevents the body from processing the essential amino acid methionine.
If left untreated, the inherited disorder, which interferes with the body's ability to break down protein, can lead to bone damage, vision problems, brain damage, and blood clots.
He was a highly-touted prospect until he was diagnosed with Marfan syndrome, which is an inherited disorder that affects the body's connective tissue, that nearly ended his basketball career.
Arginase-1 deficiency is a rare, inherited disorder that affects the urea cycle due to a mutation in the arginase-1 gene.
Hemophilia is the most common inherited bleeding disorder, he told adding that it is an inherited disorder that almost exclusively affects men while women rarely have the disease but are the carriers who can pass the condition to their male children.
Thalassemia is an inherited disorder that leads to the decreased production and increased destruction of red blood cells.
It is an inherited disorder where iron levels in the body slowly build up over many years.
WORCESTER -- The University of Massachusetts Medical School is one of two institutions teaming up with a French biotechnology company to support preclinical studies into a rare inherited disorder called GM1-gangliosidosis.
PRECONCEPTION/CARRIER TESTING can tell individuals if they carry a gene alteration for a type of inherited disorder (autosomal recessive disorder).
Experts at Newcastle University have found it is possible to develop a therapy to help those suffering with the incurable condition Joubert Syndrome, an inherited disorder affecting the brain, kidneys and eyes.
Washington, June 24 ( ANI ): Researchers have claimed to have discovered out how the fatal inherited disorder Huntington's disease kills brain cells.

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