21 Terms
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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
predispositional testing
Health care; Genetic disorders
Testing of an asymptomatic individual in whom the discovery of a gene mutation indicates that eventual development of findings related to a specific diagnosis is likely but not certain. A negative ...
population risk
Health care; Genetic disorders
The proportion of individuals in the general population who are affected with a particular disorder or who carry a certain gene; often discussed in the genetic counseling process as a comparison to ...
hypolipoproteinemia
Health care; Genetic disorders
The presence of abnormally low levels of lipoproteins in the serum.
ectrodactyly
Health care; Genetic disorders
Congenital complete or partial absence of one or more digits.
heterogeneity
Health care; Genetic disorders
A single disorder, trait, or pattern of traits caused by different mutations within a gene.
locus heterogeneity
Health care; Genetic disorders
A single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci.
angiokeratoma
Health care; Genetic disorders
A skin disease characterized by small warty elevations or telangiectasias and epidermal thickening.
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