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congenital disorder of glycosylation type IIh
Summary
- Synonym
-
- CDG IIh
- CDG2H
- CDGIIdh
- COG8-CDG
- Carbohydrate deficient glycoprotein syndrome type IIh
- Congenital disorder of glycosylation type 2h
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070260
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MW5 | Conserved oligomeric Golgi complex subunit 8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001249 | Intellectual disability |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0002243 | Protein-losing enteropathy |
| HP:0001762 | Talipes equinovarus |
| HP:0000347 | Micrognathia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000252 | Microcephaly |
| HP:0001344 | Absent speech |
| HP:0008115 | Clinodactyly of the 3rd toe |
