mucopolysaccharidosis type IVB
Information
- Disease name
- mucopolysaccharidosis type IVB
- Disease ID
- DOID:0111392
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1928092, url:https\://www.ncbi.nlm.nih.gov/pubmed/817853]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Exact Synonym (Disease Ontology)
- beta-D-galactosidase deficiency
- Exact Synonym (Disease Ontology)
- Morquio disease type B
- Exact Synonym (Disease Ontology)
- Morquio syndrome B
- Exact Synonym (Disease Ontology)
- MPS IVB
- Exact Synonym (Disease Ontology)
- MPS4B
- Exact Synonym (Disease Ontology)
- mucopolysaccharidosis type IVB (Morquio)
- Disase is a (Disease Ontology)
- DOID:12804
- Cross Reference ID (Disease Ontology)
- ICD10CM:E76.211
- Cross Reference ID (Disease Ontology)
- MESH:D009085
- Cross Reference ID (Disease Ontology)
- MIM:253010
- Cross Reference ID (Disease Ontology)
- NCI:C84902
- Cross Reference ID (Disease Ontology)
- ORDO:309310
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254075008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0086652