Summary Literature (0)

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 :


OMIM:

MIM:253200 - mucopolysaccharidosis type vi; mps6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee