FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital disorder of glycosylation type IIh ID (Ontology) DOID:0070260 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
Also Known As "Carbohydrate deficient glycoprotein syndrome type IIh" ; "CDG IIh" ; "CDG2H" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIh       1
 for disease ribbon | congenital disorder of glycosylation type IIh       1
 model of | congenital disorder of glycosylation type IIh       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIh  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
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Synonyms
  • "Carbohydrate deficient glycoprotein syndrome type IIh" EXACT
    "CDG IIh" EXACT OMO:0003012
    "CDG2H" EXACT OMO:0003012
    "CDGIIh" EXACT OMO:0003012
    "COG8-CDG" EXACT OMO:0003012
    "Congenital disorder of glycosylation type 2h" EXACT
Secondary IDs
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GARD:12411
MESH:C566987
MIM:611182
ORDO:95428
SNOMEDCT_US_2023_03_01:717774004
UMLS_CUI:C1970021