OBO ID: DOID:0111392 |
Term Name: | mucopolysaccharidosis type IVB | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111392 ) |
OTHER mucopolysaccharidosis type IVB PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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