OBO ID: DOID:0070262
Term Name: congenital disorder of glycosylation type IIj Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIj
  • CDG IIj
  • CDG syndrome type IIj
  • CDG2J
  • CDGIIdj
  • 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 COG4 on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/19494034
References:
Ontology: Human Disease   (DOID:0070262)
OTHER congenital disorder of glycosylation type IIj PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COG4 Congenital disorder of glycosylation, type IIj 613489
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None