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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation type IIb
Summary
- Synonym
-
- CDG IIb
- CDG2B
- CDGIIb
- glucosidase I deficiency
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070254
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13724 | Mannosyl-oligosaccharide glucosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000034 | Hydrocele testis |
| HP:0000218 | High palate |
| HP:0000269 | Prominent occiput |
| HP:0000278 | Retrognathia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000445 | Wide nose |
| HP:0000527 | Long eyelashes |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000821 | Hypothyroidism |
