mucopolysaccharidosis IV (DOID:12804)
Alliance: disease page
Synonyms: chondroosteodystrophy; deficiency of chondroitinsulphatase; deficiency of N-acetylgalactosamine-6-sulphatase; galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis, MPS-IV; Osteochondrodystrophy
Alt IDs: DOID:0050808, DOID:14767, ICD10CM:E76.219, MESH:D009085, NCI:C61263, UMLS_CUI:C0026707
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.