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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:0003202 | Skeletal muscle atrophy |
| HP:0001508 | Failure to thrive |
| HP:0012537 | Food intolerance |
| HP:0001250 | Seizure |
| HP:0007420 | Spontaneous hematomas |
| HP:0002376 | Developmental regression |
| HP:0001137 | Alternating esotropia |
| HP:0007267 | Chronic axonal neuropathy |
| HP:0002119 | Ventriculomegaly |
| HP:0008947 | Infantile muscular hypotonia |
