DISEASES

Disease-gene associations mined from literature

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 ...