Search Ontology:
Human Disease

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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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