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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:0000011 | Neurogenic bladder |
| HP:0000020 | Urinary incontinence |
| HP:0000028 | Cryptorchidism |
| HP:0000054 | Micropenis |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
