monogenic disorder


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Synonyms for monogenic disorder

References in periodicals archive ?
The most definitive role for genes in arrhythmogenesis came from the study of monogenic disorders that result in sudden death.
Mendelian diseases are those caused by a single mutated gene and are also known as monogenic disorders.
Named after Gregor Mendel, the 19th century researcher widely regarded as the founder of genetic science, Mendelian diseases or monogenic disorders are those caused by a single mutated gene.
Partnership will focus on reproductive health, new born screening, autism, hereditary cancer, monogenic disorders, and exome sequence-based personalised medical healthcare.
Monogenic disorders are more straightforward in terms of testing because the genetic defect (pathogenic mutation) in a single gene is the direct cause of the disorder.
We are hoping to work with BGI in larger projects that involve other genetic disorders, especially Cancer genetics, monogenic disorders and Thalassemia which has a very high incidence in the region.
Monogenic disorders are further classified as autosomal dominant, autosomal recessive, sex linked recessive and dominant disorders.
Monogenic disorders usually cause severe dyslipidaemia.