Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
lysosomal storage disease
mucopolysaccharidosis |
| gptkbp:alsoKnownAs |
Morquio syndrome
|
| gptkbp:causedBy |
deficiency of N-acetylgalactosamine-6-sulfatase
deficiency of beta-galactosidase |
| gptkbp:firstDescribed |
1929
Luis Morquio |
| https://www.w3.org/2000/01/rdf-schema#label |
MPS IV
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
253000
253010 |
| gptkbp:subspecies |
MPS IVA
MPS IVB |
| gptkbp:symptom |
respiratory problems
short stature skeletal dysplasia corneal clouding joint laxity |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis
|
| gptkbp:bfsLayer |
5
|