Human genes for congenital disorder of glycosylation type IIh
Congenital disorder of glycosylation type IIh [DOID:0070260]
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1.
Synonyms: congenital disorder of glycosylation type IIh, congenital disorder of glycosylation type IIhs, DOID:0070260, Carbohydrate deficient glycoprotein syndrome type IIh, CDG2H ...