Mucopolysaccharidosis type I S
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
gptkb:Scheie_syndrome
|
| gptkbp:characterizedBy |
deficiency of alpha-L-iduronidase
|
| gptkbp:firstDescribed |
gptkb:Harold_G._Scheie
|
| gptkbp:ICD-10_code |
E76.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IDUA_gene
|
| gptkbp:OMIM |
607016
|
| gptkbp:onset |
childhood
|
| gptkbp:partOf |
gptkb:Mucopolysaccharidosis_type_I_spectrum
|
| gptkbp:symptom |
joint stiffness
corneal clouding cardiac involvement mild skeletal abnormalities |
| gptkbp:treatment |
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Scheie_syndrome
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type I S
|