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 IIi ID (Ontology) DOID:0070261 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
Also Known As "Carbohydrate deficient glycoprotein syndrome type IIi" ; "CDG IIi" ; "CDG syndrome type IIi" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIi       1
 for disease ribbon | congenital disorder of glycosylation type IIi       1
 model of | congenital disorder of glycosylation type IIi       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 IIi  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "Carbohydrate deficient glycoprotein syndrome type IIi" EXACT
    "CDG IIi" EXACT OMO:0003012
    "CDG syndrome type IIi" EXACT
    "CDG2I" EXACT OMO:0003012
    "CDGIIi" EXACT OMO:0003012
    "COG5-CDG" EXACT OMO:0003012
    "Congenital disorder of glycosylation type 2i" EXACT
Secondary IDs
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GARD:12348
MIM:613612
ORDO:263487