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 IIb ID (Ontology) DOID:0070254 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.
Also Known As "CDG IIb" ; "CDG2B" ; "CDGIIb" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIb       1
 for disease ribbon | congenital disorder of glycosylation type IIb       1
 model of | congenital disorder of glycosylation type IIb       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 IIb  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "CDG IIb" EXACT OMO:0003012
    "CDG2B" EXACT OMO:0003012
    "CDGIIb" EXACT OMO:0003012
    "glucosidase I deficiency" EXACT
Secondary IDs
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GARD:10767
MESH:C565264
MIM:606056
ORDO:79330
SNOMEDCT_US_2023_03_01:725028009
UMLS_CUI:C1853736