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Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Contributors in Genetic disorders

Genetic disorders

Comparative genomic hybridization (CGH)

Health care; Genetic disorders

1) Comparative genomic hybridization (CGH) is a technique that allows the detection of losses and gains in DNA copy number across the entire genome without prior knowledge of specific chromosomal ...

High density lipoproteins (HDL)

Health care; Genetic disorders

1) Class of lipoproteins that promote transport of cholesterol from extrahepatic tissue to the liver for excretion in the bile; synthesised by the liver as particles lacking a lipid core, they ...

Polycystic ovary syndrome (PCOS)

Health care; Genetic disorders

1) Clinical symptom complex characterised by presence of multiple cysts on the ovaries, oligomenorrhea or amenorrhea, anovulation and regularly associated with excessive amounts of body hair ...

End-stage renal disease (ESRD)

Health care; Genetic disorders

1) Chronic, irreversible renal failure. 2) An irreversible and usually progressive reduction in renal function in which both kidneys have been damaged by a variety of diseases to the extent that they ...

Exon

Health care; Genetic disorders

1) Coding sequence of DNA present in mature messenger RNA; DNA initially transcribed to messenger RNA consists of coding sequences (exons) and non-coding sequences (introns). Introns are spliced out ...

Microfibrils

Health care; Genetic disorders

1) Components of the extracellular matrix consisting primarily of fibrillin. They are essential for the integrity of elastic fibers. 2) Extracellular matrix components occurring independently or ...

Excessive thirst and fluid intake

Health care; Genetic disorders

1) Chronic excessive intake of water; it may be from an organic cause, such as the dehydration of diabetes mellitus, diabetes insipidus, or a reaction to medication, or from a psychological cause. ...

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