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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation type IIe
Summary
- Synonym
-
- CDG IIe
- CDG syndrome type IIe
- CDG2E
- CDGIIde
- COG7-CDG
- Carbohydrate deficient glycoprotein syndrome type IIe
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070257
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P83436 | Conserved oligomeric Golgi complex subunit 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0001433 | Hepatosplenomegaly |
| HP:0000952 | Jaundice |
| HP:0002719 | Recurrent infections |
| HP:0100807 | Long fingers |
| HP:0001518 | Small for gestational age |
| HP:0001181 | Adducted thumb |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000347 | Micrognathia |
