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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
mucopolysaccharidosis VI
Summary
- Synonym
-
- MPS VI - Maroteaux-Lamy syndrome
- Maroteaux - Lamy syndrome
- Maroteaux-Lamy syndrome
- arylsulfatase B deficiency
- deficiency of N-acetylgalactosamine-4-sulfatase
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
- Super Class
- mucopolysaccharidosis
External Links
- Disease Ontology
- DOID:12800
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15848 | Arylsulfatase B |
| UniProt ID | Protein Name | Source |
|---|---|---|
| B2RWQ7 | Arsb protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50430 | Arylsulfatase B |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005280 | Depressed nasal bridge |
| HP:0007957 | Corneal opacity |
| HP:0008301 | Dermatan sulfate excretion in urine |
| HP:0008432 | Anterior wedging of L1 |
| HP:0010444 | Pulmonary insufficiency |
| HP:0010535 | Sleep apnea |
| HP:0010885 | Avascular necrosis |
| HP:0011410 | Caesarian section |
| HP:0011463 | Childhood onset |
| HP:0011703 | Sinus tachycardia |
