Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
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:0002938 | Lumbar hyperlordosis |
| HP:0003016 | Metaphyseal widening |
| HP:0003025 | Metaphyseal irregularity |
| HP:0003274 | Hypoplastic acetabulae |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0003521 | Disproportionate short-trunk short stature |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0005180 | Tricuspid regurgitation |
