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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:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001762 | Talipes equinovarus |
| HP:0001999 | Abnormal facial shape |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002280 | Enlarged cisterna magna |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002673 | Coxa valga |
| HP:0002751 | Kyphoscoliosis |
| HP:0003026 | Short long bone |
