| Metadata | |
|---|---|
| ID | DOID:0111392 |
| Name | mucopolysaccharidosis type IVB |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/1928092, https://www.ncbi.nlm.nih.gov/pubmed/817853 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254075008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
beta-D-galactosidase deficiency [EXACT] Morquio disease type B [EXACT] Morquio syndrome B [EXACT] MPS IVB [EXACT] MPS4B [EXACT] mucopolysaccharidosis type IVB (Morquio) [EXACT] |
| Parent Relationships |