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 ?
The embryonic genome allowed us to perform a genomewide diagnosis of mendelian disorders, including 83 common mendelian disorders in the clinic involving 384 genes (Fig.
This is particularly true as we begin screening populations not previously evaluated for Mendelian disorders.
Recent successes utilizing exome sequencing in diagnosing rare Mendelian disorders are abundant.
In rare cases, the source of the genetic contribution to the effects of smoking is clear--single-gene Mendelian disorders such as [alpha.
Gene pooling has given rise to increased susceptibility to certain rare Mendelian disorders among such groups as the Amish, the Ashkenazi Jews, the French Canadians, and the Afrikaners.
These tests, which are performed in CLIA-certified laboratories, are mainly for mendelian disorders with well-established causal relationships between genes and diseases.
Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for mendelian disorders.
Chromosomal abnormalities cause some miscarriages but more likely explanations are Mendelian disorders (single-gene anomalies) or polygenic multifactorial disorders, he said.
Since I spoke at this Forum in 1993 (1), the emphasis in human genetics research has shifted from rare Mendelian disorders to common, complex diseases, but "Issues of benefits and risks of genetic testing", the title of my earlier presentation, have, if anything, become more important.