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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:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0004322 | Short stature |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009473 | Joint contracture of the hand |
| HP:0010864 | Intellectual disability, severe |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0012444 | Brain atrophy |
