Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:lysosomal_storage_disease
gptkb:mucopolysaccharidosis gptkb:rare_disease |
| gptkbp:category |
gptkb:genetic_disorder
gptkb:metabolic_disorder |
| gptkbp:causedBy |
mutation in IDUA gene
|
| gptkbp:differentialDiagnosis |
gptkb:Hurler_syndrome
gptkb:Scheie_syndrome |
| gptkbp:frequency |
very rare
|
| 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 |
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
| gptkbp:bfsLayer |
5
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hurler-Scheie syndrome
|