1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070257 | congenital disorder of glycosylation type IIe | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |