congenital disorder of glycosylation type IIg

Term ID

DOID:0070259

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIg
• CDG IIg
• CDG2G
• CDGII/COG1 cerebrocostomandibular-like syndrome
• CDGIIg

Definition

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/16537452

References

• GARD:10226
• MESH:C535756
• OMIM:611209
• ORDO:263508
• SNOMEDCT_US_2023_03_01:718750004
• UMLS_CUI:C2931011

Ontology

Human Disease   ( DOID:0070259 )