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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:0003256 | Abnormality of the coagulation cascade |
| HP:0000565 | Esotropia |
| HP:0003429 | CNS hypomyelination |
| HP:0001337 | Tremor |
| HP:0007301 | Oromotor apraxia |
| HP:0000938 | Osteopenia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0012593 | Nephrotic range proteinuria |
| HP:0001508 | Failure to thrive |
| HP:0004322 | Short stature |
