mendelian disorder


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Related to mendelian disorder: Mendelian genetics

mendelian disorder

A popular term for any genetic disease which follows simple mendelian patterns of inheritance (e.g., autosomal recessive disorders, such as cystic fibrosis).

mendelian disorder

Clinical genetics A popular term for any genetic disease which follows simple mendelian patterns of inheritance–eg, autosomal recessive disorders, such as cystic fibrosis. Cf Nonmendelian disorder.
References in periodicals archive ?
TABLE 59 GLOBAL NEXT GENERATION SEQUENCING MENDELIAN DISORDER
Finally, with the exception of molecular diagnostics for mendelian disorders, the progress on the translation of genome data to the clinic has been relatively slow, although we can expect this trend to change with an increasing number of applications in the near future.
Any test performed on a blood or saliva specimen could, in theory, be offered directly to consumers, and many such tests have already been well validated, including those for diagnosing classical Mendelian disorders such as sickle-cell anemia and cystic fibrosis.
This work presents cutting-edge applications for the rapid assessment of fetal aneuploidies and Mendelian disorders on fetal material gained by invasive approaches, as well as procedures being validated for routine, noninvasive clinical analysis of cell free fetal DNA.
Genetic deviations are characterized thus as single gene, also called Mendelian disorders, chromosomal disorders, multifactorial disorders, and mitochondrial disorders.
This application allows an individual to visualize their genome and interrogate it for mendelian disorders, disease risk and pharmacogenomic drug response.