| Term Name: | congenital disorder of glycosylation type IIe |
|---|---|
| Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIe, CDG IIe, CDG syndrome type IIe, CDG2E, CDGIIe, COG7-CDG |
| Definition: | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. |
| Ontology: | Human Disease [DOID:0070257] ( DOID:0070257 ) |