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Glycan Structure Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation Ir
Summary
- Synonym
-
- congenital disorder of glycosylation 1r
- Definition
- A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080569
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002019 | Constipation |
| HP:0000938 | Osteopenia |
| HP:0009125 | Lipodystrophy |
| HP:0004322 | Short stature |
| HP:0000565 | Esotropia |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0012593 | Nephrotic range proteinuria |
| HP:0001290 | Generalized hypotonia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000832 | Primary hypothyroidism |
