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DOID:12800 - mucopolysaccharidosis VI
Disease Ontology Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
Synonyms: MPS VI - Maroteaux-Lamy syndrome, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome, arylsulfatase B deficiency, deficiency of N-acetylgalactosamine-4-sulfatase, deficiency of N-acetylgalactosamine-4-sulfatase (disorder),
Echinobase Genes :
MIM:253200 - mucopolysaccharidosis type vi; mps6 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mucopolysaccharidosis (is_a)