| Metadata | |
|---|---|
| ID | DOID:0080712 |
| Name | gene duplication disease |
| Definition | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. https://www.genome.gov/genetics-glossary/Duplication, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/ |
| Synonyms |
gene duplication syndrome [EXACT] |
| Parent Relationships |
is_a monogenic disease |