disorder

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Related to mendelian disorder: Mendelian genetics

disorder

[dis′ȯrd·ər]
(crystallography)
Departures from regularity in the occupation of lattice sites in a crystal containing more than one element.
References in periodicals archive ?
Exome sequencing approaches to uncovering pathogenic variants in a research setting have shown considerable utility, as evidenced by successes published in the literature for a variety of primarily Mendelian disorders with recessive, dominant, and de novo inheritance patterns.
These techniques have not only proven to be promising tools in studying the genetics underlying rare Mendelian disorders (12-14), but have also been shown to be valuable diagnostic tools in genetic diseases (3, 8, 15-19).
New therapeutic approaches to Mendelian disorders. N Engl J Med 2010;363(9):852-863.
NGS also provides extremely large-scale analysis which has greatly increased the pace of gene discovery.18 It is increasingly being used to discover causatie genes for Mendelian disorders and for screening for mutations in loci for genetically heterogeneous diseases as well as for molecular genetic diagnosis.19,20 It is also less costly than whole genome sequencing (WGS) making it more advantageous over other approaches.21 There are some studies with identifying causative mutations of ACHM that used exome sequencing.22,23 Both of the observed variants p.R436W and p.D514N were found to be evolutionary conserved among CNGA3 orthologs (Figure 2B).
Dietz HC (2010) New therapeutic approaches to Mendelian disorders. New England Journal of Medicine 363 (9): 852-863.
Gene and variant annotation for Mendelian disorders in the era of advanced sequencing technologies.
The results of a study published in Science magazine indicates that a certain percentage of Mendelian disorders are undiagnosed.
Following maternal plasma DNA sequencing and relative haplotype dosage (RHDO) analysis was used to infer the mutational status of the fetus for inheritance of Mendelian disorders.
Other articles discuss gene and variant annotation for Mendelian disorders in the era of advanced sequencing technologies; the yin and yang of autism genetics: how rare de novo and common variations affect liability; life as a clinical geneticist; charting the new terrain of precision prevention; participatory genomic research: ethical issues from the bottom up to the top Down; and application of panel-based tests for inherited risk of cancer.
Zlotogora, "Department of Community Genetics Public Health Services Ministry of Health Israel, Mendelian Disorders in The Non Jewish Population of Israel," 2015, https://www.health.gov.il/Subjects/Genetics/Documents/book_ non-Jews.pdf.