congenital disorder of glycosylation
Information
- Disease name
- congenital disorder of glycosylation
- Disease ID
- DOID:5212
- Description
- "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04198987 | Recruiting | Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation | December 6, 2018 | December 2024 | |
| NCT02503267 | Unknown status | "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" | July 2015 | June 2017 |
- Disase is a (Disease Ontology)
- DOID:2978
- Cross Reference ID (Disease Ontology)
- GARD:10307
- Cross Reference ID (Disease Ontology)
- MESH:D018981
- Cross Reference ID (Disease Ontology)
- NCI:C84615
- Cross Reference ID (Disease Ontology)
- ORDO:137
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238049009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0282577
- Exact Synonym (Disease Ontology)
- carbohydrate-deficient glycoprotein syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 137