Term Name: | mucopolysaccharidosis type IVB |
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Synonyms: | beta-D-galactosidase deficiency, Morquio disease type B, Morquio syndrome B, MPS IVB, MPS4B, mucopolysaccharidosis type IVB (Morquio) |
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. |
Ontology: | Human Disease [DOID:0111392] ( DOID:0111392 ) |