Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulationOf |
glycosaminoglycans
|
| gptkbp:causedBy |
mutation in IDUA gene
|
| gptkbp:deficiencyCauses |
gptkb:alpha-L-iduronidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1919
|
| gptkbp:fullName |
gptkb:Mucopolysaccharidosis_type_I
|
| gptkbp:hasOrphanetID |
ORPHA:582
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPS I
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Gertrud_Hurler
|
| gptkbp:OMIM |
607014
|
| gptkbp:subspecies |
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome gptkb:Scheie_syndrome |
| gptkbp:symptom |
hepatosplenomegaly
developmental delay coarse facial features corneal clouding skeletal abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis
|
| gptkbp:bfsLayer |
5
|