Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
rare disease
lysosomal storage disease mucopolysaccharidosis |
gptkbp:category |
genetic disorder
metabolic disorder |
gptkbp:causedBy |
mutation in IDUA gene
|
gptkbp:differentialDiagnosis |
gptkb:Hurler_syndrome
gptkb:Scheie_syndrome |
gptkbp:frequency |
very rare
|
https://www.w3.org/2000/01/rdf-schema#label |
Hurler-Scheie syndrome
|
gptkbp:ICD-10_code |
E76.0
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:namedAfter |
gptkb:Gertrude_Hurler
gptkb:Harold_Scheie |
gptkbp:OMIM |
607015
|
gptkbp:onset |
childhood
|
gptkbp:subclassOf |
mucopolysaccharidosis type I
|
gptkbp:symptom |
short stature
hearing loss hepatosplenomegaly joint stiffness coarse facial features corneal clouding cardiac abnormalities |
gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
gptkbp:bfsParent |
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
gptkbp:bfsLayer |
5
|