| mendelian disorder |
a genetic disease, showing a mendelian pattern of inheritance, and caused by a single mutation in the structure of DNA, which causes a single basic defect that has some pathological consequence or consequences. Called also monogenic or single-gene d. See also inborn error of metabolism, under metabolism.
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| mendelian disorder |
Inherited disorder due to a defect in a single gene .
출처: www.bwhct.nhs.uk/clinicalgenetics/glossary.htm
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