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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens and also in pharmacology and toxicology.
Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC's National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project; Global Genes Project, Genetic and Rare Diseases Organization; List of Genetic Disorders - Genome.gov
Download as PDF; Printable version; ... Lists of diseases (5 C, 64 P) A. Aging-associated diseases (4 C, 47 P) C. ... a non-profit organization.
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. [1] The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. [ 1 ]
An acquired characteristic is a non-heritable change in a function or structure of a living organism caused after birth by disease, injury, accident, deliberate modification, variation, repeated use, disuse, misuse, or other environmental influence. Acquired traits are synonymous with acquired characteristics.
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Forward genetics methods are employed in studying heritable diseases to determine the genes that are accountable. [10] With single-gene or mendelian disorders a missense mutation can be significant; single nucleotide polymorphisms (SNPs) can be analyzed to identify gene mutations that are associated with the disorder phenotype.