Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:lysosomal_storage_disorder gptkb:mucopolysaccharidosis |
| gptkbp:causedBy |
mutation in IDUA gene
|
| gptkbp:firstDescribed |
gptkb:Edwin_H._Scheie
1962 |
| 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 |
gptkb:enzyme_replacement_therapy
supportive care |
| gptkbp:bfsParent |
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
| gptkbp:bfsLayer |
5
|
| https://www.w3.org/2000/01/rdf-schema#label |
Scheie syndrome
|