1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080508 | Cornelia de Lange syndrome 4 | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |