congenital disorder of glycosylation type IIj

Term ID

DOID:0070262

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. https://www.ncbi.nlm.nih.gov/pubmed/19494034

References

• GARD:12412
• MIM:613489
• ORDO:263501

Ontology

Human Disease   ( DOID:0070262 )