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 IIf ID (Ontology) DOID:0070258 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
Also Known As "Carbohydrate deficient glycoprotein syndrome type IIf" ; "CDG IIf" ; "CDG2F" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIf       1
 for disease ribbon | congenital disorder of glycosylation type IIf       1
 model of | congenital disorder of glycosylation type IIf       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 IIf  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 IIf" EXACT
    "CDG IIf" EXACT OMO:0003012
    "CDG2F" EXACT OMO:0003012
    "CDGIIf" EXACT OMO:0003012
    "CMP-sialic acid transporter deficiency" EXACT
    "SLC35A1-CDG" EXACT OMO:0003012
Secondary IDs
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GARD:12409
MESH:C567040
MIM:603585
ORDO:238459
SNOMEDCT_US_2023_03_01:723624008
UMLS_CUI:C1970344