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 IId ID (Ontology) DOID:0070256 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
Also Known As "CDG IId" ; "CDG2D" ; "CDGIId"
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 Genes
 congenital disorder of glycosylation type IId       2
 for disease ribbon | congenital disorder of glycosylation type IId       2
 model of | congenital disorder of glycosylation type IId       2
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 IId  2 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "CDG IId" EXACT OMO:0003012
    "CDG2D" EXACT OMO:0003012
    "CDGIId" EXACT OMO:0003012
Secondary IDs
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GARD:9841
MESH:C535753
MIM:607091
ORDO:79332
SNOMEDCT_US_2023_03_01:725587007
UMLS_CUI:C2931009