Term Name: congenital disorder of glycosylation type IIj
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIj, CDG IIj, CDG syndrome type IIj, CDG2J, CDGIIj, COG4-CDG, Congenital disorder of glycosylation type 2j
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
Ontology: Human Disease [DOID:0070262]   ( DOID:0070262 )

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