Search Ontology:
Human Disease

congenital disorder of glycosylation type IIe

Term ID
DOID:0070257
Synonyms
  • Carbohydrate deficient glycoprotein syndrome type IIe
  • CDG IIe
  • CDG syndrome type IIe
  • CDG2E
  • CDGIIe
  • COG7-CDG
Definition
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842
References
Ontology
Human Disease   ( DOID:0070257 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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