Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
congenital disorder of glycosylation type IIj
Summary
- Synonym
-
- CDG IIj
- CDG syndrome type IIj
- CDG2J
- CDGIIj
- COG4-CDG
- Carbohydrate deficient glycoprotein syndrome type IIj
- Congenital disorder of glycosylation type 2j
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070262
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0001510 | Growth delay |
| HP:0001531 | Failure to thrive in infancy |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0001394 | Cirrhosis |
| HP:0006583 | Fatal liver failure in infancy |
| HP:0001433 | Hepatosplenomegaly |
| HP:0100874 | Thick hair |
| HP:0002788 | Recurrent upper respiratory tract infections |
