Search Ontology:
Human Disease
mucopolysaccharidosis VI
- Term ID
- DOID:12800
- Synonyms
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- arylsulfatase B deficiency
- deficiency of N-acetylgalactosamine-4-sulfatase
- Maroteaux - Lamy syndrome
- Maroteaux-Lamy syndrome
- MPS VI - Maroteaux-Lamy syndrome
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome
- References
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- GARD:7095
- MESH:D009087
- MIM:253200
- NCI:C61264
- SNOMEDCT_US_2023_03_01:69463008
- UMLS_CUI:C0026709
- Ontology
- Human Disease ( DOID:12800 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models