| Metadata | |
|---|---|
| ID | DOID:0050737 |
| Name | autosomal recessive disease |
| 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. http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns |
| Parent Relationships | |
| Equivalent Logical Relationships |
disease and has material basis in some autosomal recessive inheritance |