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| Term | mucopolysaccharidosis type IVB | ID (Ontology) | DOID:0111392 (Human Disease) |
| 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. | ||
| Also Known As | "beta-D-galactosidase deficiency" ; "Morquio disease type B" ; "Morquio syndrome B" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ mucopolysaccharidosis | |__mucopolysaccharidosis IV_____| mucopolysaccharidosis type IVB 2 rec. |
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| Is a |
autosomal recessive disease mucopolysaccharidosis IV |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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ICD10CM:E76.211 MESH:D009085 MIM:253010 NCI:C84902 ORDO:309310 SNOMEDCT_US_2023_03_01:254075008 UMLS_CUI:C0086652 |
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