congenital disorder of glycosylation type IIe

Term ID

DOID:0070257

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 the COG7 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842

References

• GARD:9842
• MESH:C535754
• OMIM:608779
• ORDO:79333
• SNOMEDCT_US_2023_03_01:717773005
• UMLS_CUI:C2931010

Ontology

Human Disease   ( DOID:0070257 )