congenital disorder of glycosylation type IIi

Term ID

DOID:0070261

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIi
• CDG IIi
• CDG syndrome type IIi
• CDG2I
• CDGIIdi
• COG5-CDG
• Congenital disorder of glycosylation type 2i

Definition

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. https://www.ncbi.nlm.nih.gov/pubmed/19690088

References

• GARD:12348
• OMIM:613612
• ORDO:263487

Ontology

Human Disease   ( DOID:0070261 )