Version: 8.0.0
Date: Tue Jan 28 2025
congenital disorder of glycosylation type IIe
DOID:0070257
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital disorder of glycosylation type IIe

Definition
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
Synonyms
  • Carbohydrate deficient glycoprotein syndrome type IIe
  • CDG IIe
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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