WormBase Tree Display for DO_term: DOID:0111392
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| DOID:0111392 | Name | mucopolysaccharidosis type IVB | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MPS IVB | |||
| MPS4B | |||||
| Morquio disease type B | |||||
| Morquio syndrome B | |||||
| beta-D-galactosidase deficiency | |||||
| mucopolysaccharidosis type IVB (Morquio) | |||||
| Parent | Is_a | DOID:12804 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 253010 | |
| Attribute_of | Gene_by_orthology | WBGene00011832 |
