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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation type IIi
Summary
- Synonym
-
- CDG IIi
- CDG syndrome type IIi
- CDG2I
- CDGIIi
- 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
- 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:0000431 | Wide nasal bridge |
| HP:0000448 | Prominent nose |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000599 | Abnormality of the frontal hairline |
| HP:0000729 | Autistic behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001256 | Intellectual disability, mild |
| HP:0001270 | Motor delay |
