Genetic disorders

Genetic disorders

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

Industry: Health care

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Genetic disorders

patella

Health care; Genetic disorders

The flat, triangular bone situated at the anterior part of the KNEE.

foot drop

Health care; Genetic disorders

An extended position of the foot caused by paralysis of the flexor muscles of the leg -- called also drop foot.

Any of various thin membranes (as the peritoneum, pericardium, or pleurae) that consist of a single layer of thin flat mesothelial cells resting on a connective-tissue stroma, secrete a serous fluid, ...

caspase

Health care; Genetic disorders

The caspases are a family of proteases responsible for carrying out the cell death process. In a living cell, these proteases are kept inactive by proteins on the mitochondrial cell surface from the ...

robertsonian translocation

Health care; Genetic disorders

The joining of two acrocentric chromosomes at the centromeres with loss of their short arms to form a single abnormal chromosome; acrocentric chromosomes are the Y chromosome and chromosome numbers ...

premutation

Health care; Genetic disorders

In disorders caused by trinucleotide repeat expansions, an abnormally large allele that is not associated with clinical symptoms but that can expand into a full mutation when transmitted to offspring ...