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 ) |