Term Name: | mucopolysaccharidosis IV |
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Synonyms: | chondroosteodystrophy, deficiency of chondroitinsulphatase, deficiency of N-acetylgalactosamine-6-sulphatase, galactosamine-6-sulfatase deficiency, Morquio A disease, Morquio syndrome A, Mucopolysaccharidosis, MPS-IV, Osteochondrodystrophy |
Definition: | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
Ontology: | Human Disease [DOID:12804] ( DOID:12804 ) |