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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
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Guidelines
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:0001371 | Flexion contracture |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
| HP:0001537 | Umbilical hernia |
| HP:0001638 | Cardiomyopathy |
| HP:0001653 | Mitral regurgitation |
| HP:0001718 | Mitral stenosis |
| HP:0001744 | Splenomegaly |
| HP:0002090 | Pneumonia |
| HP:0002091 | Restrictive ventilatory defect |
