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Id http://purl.obolibrary.org/obo/DOID_0111392
http://purl.obolibrary.org/obo/DOID_0111392
Preferred Name

mucopolysaccharidosis type IVB
Definitions
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
MPS IVB
MPS4B
beta-D-galactosidase deficiency
Morquio syndrome B
mucopolysaccharidosis type IVB (Morquio)
Morquio disease type B
Type http://www.w3.org/2002/07/owl#Class

All Properties

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.
preferred label
mucopolysaccharidosis type IVB
label
mucopolysaccharidosis type IVB
prefLabel
mucopolysaccharidosis type IVB
database_cross_reference
OMIM:253010
UMLS_CUI:C0086652
SNOMEDCT_US_2023_03_01:254075008
ICD10CM:E76.211
MESH:D009085
ORDO:309310
NCI:C84902
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notation
DOID:0111392
in_subset
id
DOID:0111392
note
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.
alternative label
MPS IVB
MPS4B
beta-D-galactosidase deficiency
Morquio syndrome B
mucopolysaccharidosis type IVB (Morquio)
Morquio disease type B
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has material basis in
has_obo_namespace
disease_ontology
subClassOf
type
has exact synonym
MPS IVB
MPS4B
beta-D-galactosidase deficiency
Morquio syndrome B
mucopolysaccharidosis type IVB (Morquio)
Morquio disease type B
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