Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affectsOrgan |
gptkb:kidney
|
| gptkbp:cause |
end-stage renal disease
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
genetic testing
urinalysis renal biopsy |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial nephrotic syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:PLCE1
gptkb:WT1 gptkb:LAMB2 NPHS1 NPHS2 |
| gptkbp:subspecies |
gptkb:steroid-resistant_nephrotic_syndrome
gptkb:congenital_nephrotic_syndrome |
| gptkbp:symptom |
edema
proteinuria hyperlipidemia hypoalbuminemia |
| gptkbp:treatment |
immunosuppressive therapy
kidney transplantation corticosteroids ACE inhibitors |
| gptkbp:bfsParent |
gptkb:PLCĪµ
|
| gptkbp:bfsLayer |
7
|