OntologyTerm genetic disorder

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   May 11th, 2017 at 3:58pm

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definition 
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. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. disease
preferred_name 
genetic disorder
references 
  1. None
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. inherited disease
  2. Mendelian disease
  3. molecular disease
  4. genetic disease
  5. hereditary disease
  6. hereditary diseases
  7. inherited genetic disease
  8. hereditary disease or disorder
term_id 
EFO:0000508
term_name 
genetic disorder
term_url 
http://www.ebi.ac.uk/efo/EFO_0000508