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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation type IId
Summary
- Synonym
-
- CDG IId
- CDG2D
- CDGIId
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070256
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15291 | Beta-1,4-galactosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005543 | Reduced protein C activity |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0011003 | High myopia |
| HP:0001892 | Abnormal bleeding |
| HP:0000545 | Myopia |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0001999 | Abnormal facial shape |
| HP:0000969 | Edema |
| HP:0003645 | Prolonged partial thromboplastin time |
