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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000969 | Edema |
| HP:0001007 | Hirsutism |
| HP:0001250 | Seizure |
| HP:0001332 | Dystonia |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001561 | Polyhydramnios |
| HP:0001596 | Alopecia |
| HP:0001631 | Atrial septal defect |
| HP:0001640 | Cardiomegaly |
| HP:0001712 | Left ventricular hypertrophy |
