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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
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13724 | Mannosyl-oligosaccharide glucosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001873 | Thrombocytopenia |
| HP:0001999 | Abnormal facial shape |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002098 | Respiratory distress |
| HP:0002104 | Apnea |
| HP:0002240 | Hepatomegaly |
| HP:0002286 | Fair hair |
| HP:0002720 | Decreased circulating IgA level |
| HP:0002791 | Hypoventilation |
| HP:0002850 | Decreased circulating total IgM |
