loading...| Preferred Name | mucopolysaccharidosis type IVB | |
| Synonyms |
MPS IVB MPS4B beta-D-galactosidase deficiency Morquio syndrome B mucopolysaccharidosis type IVB (Morquio) Morquio disease type B |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111392 |
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| database_cross_reference |
UMLS_CUI:C0086652 SNOMEDCT_US_2023_03_01:254075008 ICD10CM:E76.211 MESH:D009085 ORDO:309310 MIM:253010 NCI:C84902 |
|
| 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. |
|
| has exact synonym |
MPS IVB MPS4B beta-D-galactosidase deficiency Morquio syndrome B mucopolysaccharidosis type IVB (Morquio) Morquio disease type B |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111392 |
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| in_subset | ||
| label |
mucopolysaccharidosis type IVB |
|
| notation |
DOID:0111392 |
|
| prefLabel |
mucopolysaccharidosis type IVB |
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| subClassOf |