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GlyTouCan
Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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Guidelines
MIRAGE
glycoproteinosis
Summary
- Synonym
-
- Mucolipidosis type I
- sialidosis
- Definition
- A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
- Super Class
- mucolipidosis
External Links
- Disease Ontology
- DOID:3343
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q99519 | Sialidase-1 | |
| Q9GZU1 | Mucolipin-1 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35657 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007750 | Hypoplasia of the fovea |
| HP:0010442 | Polydactyly |
| HP:0011947 | Respiratory tract infection |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000282 | Facial edema |
| HP:0001290 | Generalized hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0001638 | Cardiomyopathy |
| HP:0001640 | Cardiomegaly |
