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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:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001773 | Short foot |
| HP:0001873 | Thrombocytopenia |
| HP:0001902 | Giant platelets |
| HP:0001903 | Anemia |
