An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. [ url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm http://purl.obolibrary.org/obo/ECO_0007637 url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns http://purl.obolibrary.org/obo/ECO_0007640 ]

This is just here as a test because I lose it

Term information

created by
  • lschriml
creation date
  • 2012-07-24T12:51:47Z
definition
  • An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
has obo namespace
  • disease_ontology
id
  • DOID:0050737