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 IIc ID (Ontology) DOID:0070255 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
Also Known As "CDG IIc" ; "CDG2C" ; "CDGIIc" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 congenital disorder of glycosylation type IIc       2      1
 for disease ribbon | congenital disorder of glycosylation type IIc       1       --
 model of | congenital disorder of glycosylation type IIc       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 IIc  3 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "CDG IIc" EXACT OMO:0003012
    "CDG2C" EXACT OMO:0003012
    "CDGIIc" EXACT OMO:0003012
    "Rambam-Hasharon syndrome" EXACT
Secondary IDs
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GARD:4634
MESH:C535755
MIM:266265
NCI:C4690
ORDO:99843
SNOMEDCT_US_2023_03_01:234583001
UMLS_CUI:C0398739