Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder mucopolysaccharidosis |
gptkbp:causedBy |
mutation in IDUA gene
|
gptkbp:firstDescribed |
gptkb:Edwin_H._Scheie
1962 |
https://www.w3.org/2000/01/rdf-schema#label |
Scheie syndrome
|
gptkbp:ICD-10_code |
E76.0
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:OMIM |
607016
|
gptkbp:onset |
childhood
|
gptkbp:otherName |
gptkb:Mucopolysaccharidosis_type_I_S
MPS I-S |
gptkbp:progression |
slow
|
gptkbp:relatedTo |
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome |
gptkbp:subclassOf |
mucopolysaccharidosis type I
|
gptkbp:symptom |
gptkb:carpal_tunnel_syndrome
short stature hepatosplenomegaly joint stiffness coarse facial features corneal clouding aortic valve disease |
gptkbp:treatment |
supportive care
enzyme replacement therapy |
gptkbp:bfsParent |
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
gptkbp:bfsLayer |
5
|