OntologiesefoclassesEFO:0000508   
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genetic disorder
http://www.ebi.ac.uk/efo/EFO_0000508

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be).

Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.

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Exact Synonyms
genetic disease
hereditary disease or disorder
hereditary disease
hereditary diseases
inherited disease
inherited genetic disease
molecular disease
Related Synonyms
familial disorder
inborn disorder
Narrow Synonyms
Mendelian disease
Broad Synonyms
genetic condition
genetic disease
genetic disorder