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 IId
Summary
- Synonym
-
- CDG IId
- CDG2D
- CDGIId
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070256
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15291 | Beta-1,4-galactosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000431 | Wide nasal bridge |
| HP:0009062 | Infantile axial hypotonia |
| HP:0001744 | Splenomegaly |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002014 | Diarrhea |
| HP:0001305 | Dandy-Walker malformation |
| HP:0004855 | Reduced protein S activity |
| HP:0000219 | Thin upper lip vermilion |
| HP:0002240 | Hepatomegaly |
| HP:0000316 | Hypertelorism |
