Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Lysosomal_storage_disease
Metabolic disorder |
| gptkbp:affects |
Sphingolipid metabolism
|
| gptkbp:cause |
Developmental delay
Neurological symptoms Organomegaly |
| gptkbp:causedBy |
Enzyme deficiency
|
| gptkbp:characterizedBy |
Accumulation of sphingolipids
|
| gptkbp:diagnosedBy |
Enzyme assay
Genetic testing |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sphingolipidosis
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:includes |
gptkb:Tay-Sachs_disease
gptkb:Niemann-Pick_disease gptkb:Fabry_disease gptkb:Gaucher_disease gptkb:Metachromatic_leukodystrophy Krabbe disease |
| gptkbp:treatment |
Supportive care
Enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:E75.22
|
| gptkbp:bfsLayer |
7
|