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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:0100598 | Pulmonary edema |
| HP:0000581 | Blepharophimosis |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0010851 | EEG with burst suppression |
| HP:0001252 | Hypotonia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001188 | Hand clenching |
| HP:0012815 | Hypoplastic female external genitalia |
| HP:0001290 | Generalized hypotonia |
| HP:0003577 | Congenital onset |
