Term Name: congenital disorder of glycosylation type IIq
Synonyms: CDG IIq, CDG2Q, CDGIIq, COG2-CDG, COG2-related congenital disorder of glycosylation
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
Ontology: Human Disease [DOID:0070269]   ( DOID:0070269 )

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