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loading...| Preferred Name | mucopolysaccharidosis type IVB | |
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| 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 GLB1 on chromosome 3p22.3. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111392 |
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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 GLB1 on chromosome 3p22.3. |
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| label |
mucopolysaccharidosis type IVB |
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| prefixIRI |
DOID:0111392 |
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| prefLabel |
mucopolysaccharidosis type IVB |
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| subClassOf |
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