Term Name: congenital disorder of glycosylation type IIi
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIi, CDG IIi, CDG syndrome type IIi, CDG2I, CDGIIi, COG5-CDG, Congenital disorder of glycosylation type 2i
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
Ontology: Human Disease [DOID:0070261]   ( DOID:0070261 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II