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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation type IIl
Summary
- Synonym
-
- CDG IIl
- CDG syndrome type IIL
- CDG2L
- CDGIIdl
- COG6-CGD
- Congenital disorder of glycosylation type 2l
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070264
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003577 | Congenital onset |
| HP:0004719 | Hyperechogenic kidneys |
| HP:0005435 | Impaired T cell function |
| HP:0006297 | Enamel hypoplasia |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0100259 | Postaxial polydactyly |
