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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:0000369 | Low-set ears |
| HP:0003186 | Inverted nipples |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0001622 | Premature birth |
| HP:0003198 | Myopathy |
| HP:0001252 | Hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003199 | Decreased muscle mass |
| HP:0001263 | Global developmental delay |
| HP:0003577 | Congenital onset |
