mucopolysaccharidosis type IVB (DOID:0111392)
Alliance: disease page
Synonyms: beta-D-galactosidase deficiency; Morquio disease type B; Morquio syndrome B; MPS4B; MPS IVB; mucopolysaccharidosis type IVB (Morquio)
Alt IDs: OMIM:253010, ICD10CM:E76.211, MESH:D009085, NCI:C84902, ORDO:309310, UMLS_CUI:C0086652
Definition: A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.