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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:0002943 | Thoracic scoliosis |
| HP:0003241 | External genital hypoplasia |
| HP:0004313 | Decreased circulating antibody level |
| HP:0004315 | Decreased circulating IgG level |
| HP:0004463 | Absent brainstem auditory responses |
| HP:0007430 | Generalized edema |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010557 | Overlapping fingers |
| HP:0012450 | Chronic constipation |
| HP:0012745 | Short palpebral fissure |
