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congenital disorder of glycosylation type IIg
Summary
- Synonym
-
- CDG IIg
- CDG2G
- CDGII/COG1 cerebrocostomandibular-like syndrome
- CDGIIg
- Carbohydrate deficient glycoprotein syndrome type IIg
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070259
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WTW3 | Conserved oligomeric Golgi complex subunit 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011995 | Atrial septal dilatation |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000083 | Renal insufficiency |
| HP:0000126 | Hydronephrosis |
| HP:0000162 | Glossoptosis |
| HP:0000175 | Cleft palate |
| HP:0000252 | Microcephaly |
