Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
kidneys
|
| gptkbp:cause |
renal failure
kidney stones nephrocalcinosis |
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:diagnosedBy |
genetic testing
urine oxalate test |
| gptkbp:firstDescribed |
1925
|
| https://www.w3.org/2000/01/rdf-schema#label |
primary hyperoxaluria
|
| gptkbp:inheritsFrom |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:AGXT_gene
GRHPR gene HOGA1 gene |
| gptkbp:result |
excess oxalate production
|
| gptkbp:subspecies |
gptkb:primary_hyperoxaluria_type_1
primary hyperoxaluria type 2 primary hyperoxaluria type 3 |
| gptkbp:symptom |
hematuria
urinary tract infections renal colic recurrent kidney stones |
| gptkbp:treatment |
kidney transplantation
liver transplantation pyridoxine high fluid intake |
| gptkbp:bfsParent |
gptkb:Nedosiran
gptkb:SYNB1934 |
| gptkbp:bfsLayer |
8
|