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congenital disorder of glycosylation type IIi
Summary
- Synonym
-
- CDG IIi
- CDG syndrome type IIi
- CDG2I
- CDGIIdi
- COG5-CDG
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type 2i
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070261
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UP83 | Conserved oligomeric Golgi complex subunit 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0001348 | Brisk reflexes |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001562 | Oligohydramnios |
| HP:0002078 | Truncal ataxia |
| HP:0002240 | Hepatomegaly |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002857 | Genu valgum |
