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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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fucosidosis
Summary
- Synonym
-
- A-fucosidase deficiency
- alpha fucosidase deficiency
- Super Class
- lysosomal storage disease
External Links
- Disease Ontology
- DOID:14500
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04066 | Tissue alpha-L-fucosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TCW3 | Alpha-L-fucosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001508 | Failure to thrive |
| HP:0001597 | Abnormality of the nail |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0001640 | Cardiomegaly |
| HP:0001999 | Abnormal facial shape |
| HP:0002240 | Hepatomegaly |
| HP:0002510 | Spastic tetraplegia |
| HP:0002808 | Kyphosis |
