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Metadata
ID DOID:0111392
Name mucopolysaccharidosis type IVB
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.
https://www.ncbi.nlm.nih.gov/pubmed/1928092, https://www.ncbi.nlm.nih.gov/pubmed/817853
Xrefs

ICD10CM:E76.211

MESH:D009085

NCI:C84902

OMIM:253010

ORDO:309310

SNOMEDCT_US_2020_09_01:254075008

UMLS_CUI:C0086652

Synonyms

beta-D-galactosidase deficiency [EXACT]

Morquio disease type B [EXACT]

Morquio syndrome B [EXACT]

MPS IVB [EXACT]

MPS4B [EXACT]

mucopolysaccharidosis type IVB (Morquio) [EXACT]

Parent Relationships

is_a mucopolysaccharidosis IV

is_a autosomal recessive disease

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