genetic disorder

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genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic 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 ?
Genetic Diseases, Cancer, Forensic and Paternity Molecular Diagnostic Testing Markets: Country Forecasts, Emerging Technologies, Competitive Strategies" report to their offering.
Tempol is the first of many treatments Recursion plans to advance to treat genetic diseases; the company leverages advances in both biology and computation to rapidly investigate the potential of thousands of mature molecules across many genetic disease models.
The finding advances ability to predict how severe any inherited genetic diseases will be in each affected person, a key insight into human disease.
Speaking to a local publication, Rahbeeni noted the absence of accurate statistics to determine the potential Saudi genetic diseases found in each person.
Dubai: Top international scholars and experts will present and discuss medical researches and papers that deal with genetic diseases and different forms of cancer plaguing the region beginning Sunday.
Without expensive testing, it is difficult to diagnose genetic diseases, but now a new computer program is designed to help diagnose rare genetic diseases by using family photographs.
The award is given to an individual in the life sciences industry who has made outstanding contributions to advancing medical research and bringing new therapies to people living with rare genetic diseases.
Dr al-Thani was addressing a panel at the second Sidra Symposia Series hosted by the Sidra Medical and Research Centre (SMRC) on 'Neonatal Screening of Genetic Diseases and Child Development'.
Summary: The third National Conference on Genetic Diseases in the UAE began on Wednesday under the patronage of Shaikh Nahyan bin Mubarak Al Nahyan, Minister of Higher Education and Scientific Research.
U Hospital explained that this is the first conference to be held in the Sultanate on genetic diseases as it tries to find out the causes of the genetic diseases and limiting them in the Omani society and the international community.
of various genetic diseases, including the utilization of everything new to
The rate actually fell considerably after Bahrain started the compulsory screening process for couples intending to get married five years ago," said Salmaniya Medical Complex genetic diseases consultant Dr Amani Al Hajeri.