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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:0000274 | Small face |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0000405 | Conductive hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000520 | Proptosis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000750 | Delayed speech and language development |
| HP:0000954 | Single transverse palmar crease |
