mucopolysaccharidosis type IVB

Summary

DOID:0111392 - mucopolysaccharidosis type IVB

Disease Ontology 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.

Synonyms: beta-D-galactosidase deficiency, Morquio disease type B, Morquio syndrome B, MPS4B, MPS IVB, mucopolysaccharidosis type IVB (Morquio)

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: glb1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis IV (is_a)