OBO ID: DOID:0070257
Term Name: congenital disorder of glycosylation type IIe Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIe
  • CDG IIe
  • CDG syndrome type IIe
  • CDG2E
  • CDGIIde
  • COG7-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842
References:
Ontology: Human Disease   (DOID:0070257)
OTHER congenital disorder of glycosylation type IIe PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COG7 Congenital disorder of glycosylation, type IIe 608779
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None