congenital disorder of glycosylation type IIe (DOID:0070257)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIe; CDG2E; CDG IIe; CDG syndrome type IIe; CDGIIde; COG7-CDG
Alt IDs: OMIM:608779, MESH:C535754, ORDO:79333, UMLS_CUI:C2931010
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.