congenital disorder of glycosylation type IIi (DOID:0070261)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG IIi; CDG syndrome type IIi; CDGIIdi; COG5-CDG; Congenital disorder of glycosylation type 2i
Alt IDs: OMIM:613612, ORDO:263487
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.