11 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
chronic
Health care; Genetic disorders
A disease or condition that persists or progresses over a long period of time.
sweet syndrome
Health care; Genetic disorders
A disease that occurs especially in middle-aged women, that is characterized by red raised often painful patches on the skin, fever, and neutrophilia in the peripheral blood, that responds to ...
X-linked lethal
Health care; Genetic disorders
A disorder caused by a dominant mutation in a gene on the X chromosome that is observed almost exclusively in females because it is almost always lethal in males who inherit the gene mutation.
fanconi syndrome
Health care; Genetic disorders
A disorder of reabsorption in the proximal convoluted tubules of the kidney characterized especially by the presence of glucose, amino acids, and phosphates in the urine.
acne
Health care; Genetic disorders
A disorder of the skin caused by inflammation of the skin glands and hair follicles; specifically: a form found chiefly in adolescents and marked by pimples especially on the face.
private mutation
Health care; Genetic disorders
A distinct gene alteration observed in a single family.
novel mutation
Health care; Genetic disorders
A distinct gene alteration that has been newly discovered; not the same as a 'new' or 'de novo' mutation.
