OntologyTermgenetic disorder

released
   September 26th, 2019 at 5:18pm

Details


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 
preferred_name 
genetic disorder
references 
  1. None
source_ontologies 
synonyms 
  1. inherited disease
  2. hereditary diseases
  3. genetic disorder
  4. molecular disease
  5. hereditary disease
  6. genetic disease
  7. genetic condition
  8. inherited genetic disease
  9. hereditary disease or disorder
term_id 
EFO:0000508
term_name 
genetic disorder
term_url 
http://www.ebi.ac.uk/efo/EFO_0000508
@type 
  1. OntologyTerm
  2. Item
date_created 
May 11th, 2017
external_references 
  1. None
last_modified 
Expand (2)
schema_version 
2
status 
Released
submitted_by 
no view permissions
uuid 
e0808f8a-0211-431b-8018-c07ee65c7009
validation-errors 
  1. None