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congenital disorder of glycosylation type IIl
Summary
- Synonym
-
- CDG IIl
- CDG syndrome type IIL
- CDG2L
- CDGIIdl
- COG6-CGD
- Congenital disorder of glycosylation type 2l
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070264
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000114 | Proximal tubulopathy |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000648 | Optic atrophy |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
