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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:0003577 | Congenital onset |
| HP:0004322 | Short stature |
| HP:0004425 | Flat forehead |
| HP:0010557 | Overlapping fingers |
| HP:0010808 | Protruding tongue |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0012448 | Delayed myelination |
| HP:0012471 | Thick vermilion border |
| HP:0012736 | Profound global developmental delay |
| HP:0012745 | Short palpebral fissure |
