Human genes for congenital disorder of glycosylation type IIe
Congenital disorder of glycosylation type IIe [DOID:0070257]
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2.
Synonyms: congenital disorder of glycosylation type IIe, congenital disorder of glycosylation type IIes, DOID:0070257, Carbohydrate deficient glycoprotein syndrome type IIe, CDG2E ...