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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:0000164 | Abnormality of the dentition |
| HP:0000248 | Brachycephaly |
| HP:0000280 | Coarse facial features |
| HP:0000365 | Hearing impairment |
| HP:0000821 | Hypothyroidism |
| HP:0000943 | Dysostosis multiplex |
| HP:0000975 | Hyperhidrosis |
| HP:0001063 | Acrocyanosis |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
