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 IIa ID (Ontology) DOID:0070253 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
Also Known As "Alkuraya syndrome" ; "carbohydrate-deficient glycoprotein syndrome, type II" ; "CDG IIa" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIa       1
 for disease ribbon | congenital disorder of glycosylation type IIa       1
 model of | congenital disorder of glycosylation type IIa       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 IIa  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "Alkuraya syndrome" EXACT
    "carbohydrate-deficient glycoprotein syndrome, type II" EXACT
    "CDG IIa" EXACT OMO:0003012
    "CDG2A" EXACT OMO:0003012
    "CDGIIa" EXACT OMO:0003012
    "CDGS2" EXACT OMO:0003012
    "congenital disorder of glycosylation, type IIa" EXACT
    "mental retardation, growth retardation, prominent columella, and open mouth" EXACT
Secondary IDs
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GARD:9828
MESH:C535752
MIM:212066
ORDO:79329
SNOMEDCT_US_2023_03_01:724142005
UMLS_CUI:C2931008