FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term congenital disorder of glycosylation type IIk ID (Ontology) DOID:0070263 (Human Disease)
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
Also Known As "Carbohydrate deficient glycoprotein syndrome type IIk" ; "CDG IIk" ; "CDG syndrome type IIk" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 congenital disorder of glycosylation type IIk       1
 for disease ribbon | congenital disorder of glycosylation type IIk       1
 model of | congenital disorder of glycosylation type IIk       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIk  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Carbohydrate deficient glycoprotein syndrome type IIk" EXACT
    "CDG IIk" EXACT OMO:0003012
    "CDG syndrome type IIk" EXACT
    "CDG2K" EXACT OMO:0003012
    "CDGIIk" EXACT OMO:0003012
    "Congenital disorder of glycosylation type 2k" EXACT
    "TMEM165-CDG" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:12413
MIM:614727
ORDO:314667