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mucopolysaccharidosis type IVB
Summary
- Synonym
-
- MPS IVB
- MPS4B
- Morquio disease type B
- Morquio syndrome B
- beta-D-galactosidase deficiency
- mucopolysaccharidosis type IVB (Morquio)
- 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.
- Super Class
- autosomal recessive disease mucopolysaccharidosis IV
External Links
- Disease Ontology
- DOID:0111392
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase | |
| P34059 | N-acetylgalactosamine-6-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000683 | Grayish enamel |
| HP:0001249 | Intellectual disability |
| HP:0000280 | Coarse facial features |
| HP:0001387 | Joint stiffness |
| HP:0000926 | Platyspondyly |
| HP:0000023 | Inguinal hernia |
| HP:0001382 | Joint hypermobility |
| HP:0000884 | Prominent sternum |
| HP:0001653 | Mitral regurgitation |
| HP:0000365 | Hearing impairment |
