Term Name: congenital disorder of glycosylation type IIe
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIe, CDG IIe, CDG syndrome type IIe, CDG2E, CDGIIe, COG7-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
Ontology: Human Disease [DOID:0070257]   ( DOID:0070257 )

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