congenital disorder of glycosylation type IIh

Term ID

DOID:0070260

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIh
• CDG IIh
• CDG2H
• CDGIIdh
• COG8-CDG
• Congenital disorder of glycosylation type 2h

Definition

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/17220172

References

• GARD:12411
• MESH:C566987
• OMIM:611182
• ORDO:95428
• SNOMEDCT_US_2023_03_01:717774004
• UMLS_CUI:C1970021

Ontology

Human Disease   ( DOID:0070260 )