mucopolysaccharidosis type IVB

Term ID

DOID:0111392

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. (2)

References

• ICD10CM:E76.211
• MESH:D009085
• MIM:253010
• NCI:C84902
• ORDO:309310
• SNOMEDCT_US_2023_03_01:254075008
• UMLS_CUI:C0086652

Ontology

Human Disease   ( DOID:0111392 )