Morquio B disease (human deficiency)
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
lysosomal storage disease
mucopolysaccharidosis |
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
Mucopolysaccharidosis IVB
|
| gptkbp:category |
rare disease
|
| gptkbp:causedByDeficiencyOf |
gptkb:beta-galactosidase
|
| gptkbp:differentialDiagnosis |
Morquio A disease
|
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasOrphanetID |
ORPHA:582
|
| https://www.w3.org/2000/01/rdf-schema#label |
Morquio B disease (human deficiency)
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
GLB1 gene
|
| gptkbp:namedAfter |
Luis Morquio
|
| gptkbp:OMIM |
253010
|
| gptkbp:symptom |
short stature
skeletal dysplasia coarse facial features corneal clouding joint laxity |
| gptkbp:bfsParent |
gptkb:beta-galactosidase
|
| gptkbp:bfsLayer |
7
|