Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070262 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models