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congenital disorder of glycosylation type IIi
Summary
- Synonym
-
- CDG IIi
- CDG syndrome type IIi
- CDG2I
- CDGIIdi
- COG5-CDG
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type 2i
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070261
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UP83 | Conserved oligomeric Golgi complex subunit 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012448 | Delayed myelination |
| HP:0012762 | Cerebral white matter atrophy |
| HP:0100490 | Camptodactyly of finger |
| HP:0100678 | Premature skin wrinkling |
| HP:0100704 | Cerebral visual impairment |
| HP:0000365 | Hearing impairment |
| HP:0002059 | Cerebral atrophy |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0001249 | Intellectual disability |
| HP:0000007 | Autosomal recessive inheritance |
