OBO ID: DOID:0111392
Term Name: mucopolysaccharidosis type IVB Search Ontology:
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 GLB1 on chromosome 3p22.3. (2)
References:
  • ICD10CM:E76.211
  • MESH:D009085
  • NCI:C84902
  • OMIM:253010
  • ORDO:309310
  • SNOMEDCT_US_2022_03_01:254075008
  • UMLS_CUI:C0086652
Ontology: Human Disease   (DOID:0111392)
OTHER mucopolysaccharidosis type IVB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLB1 Mucopolysaccharidosis type IVB (Morquio) 253010
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None