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DO Term : mucopolysaccharidosis type IVB [DOID:0111392] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • mucopolysaccharidosis type IVB (Morquio),
  • MESH:D009085,
  • beta-D-galactosidase deficiency,
  • Morquio syndrome B,
  • SNOMEDCT_US_2023_03_01:254075008,
  • MPS IVB,
  • ICD10CM:E76.211,
  • 253010,
  • MPS4B,
  • ORDO:309310,
  • OMIM:253010,
  • NCI:C84902,
  • UMLS_CUI:C0086652,
  • Morquio disease type B
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