Mucopolysaccharidosis type I S
GPTKB entity
Statements (19)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:alsoKnownAs |
gptkb:Scheie_syndrome
|
gptkbp:characterizedBy |
deficiency of alpha-L-iduronidase
|
gptkbp:firstDescribed |
gptkb:Harold_G._Scheie
|
https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type I S
|
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 |
enzyme replacement therapy
hematopoietic stem cell transplantation |
gptkbp:bfsParent |
gptkb:Scheie_syndrome
|
gptkbp:bfsLayer |
6
|