Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:nephrotic_syndrome |
| gptkbp:alsoKnownAs |
steroid-resistant nephrotic syndrome type 3
|
| gptkbp:associatedWith |
focal segmental glomerulosclerosis
|
| gptkbp:firstDescribed |
2002
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
NPHS2 gene
|
| gptkbp:OMIM |
615573
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
edema
proteinuria hyperlipidemia hypoalbuminemia |
| gptkbp:treatment |
immunosuppressive therapy
kidney transplantation |
| gptkbp:bfsParent |
gptkb:PLCE1
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
nephrotic syndrome type 3
|