Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
metabolic disorder |
| gptkbp:affects |
humans
|
| gptkbp:causedBy |
deficiency of xanthine oxidase
|
| gptkbp:diagnosedBy |
enzyme assay
urine analysis |
| gptkbp:firstDescribed |
1900s
|
| https://www.w3.org/2000/01/rdf-schema#label |
xanthinuria
|
| gptkbp:ICD-10_code |
E79.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
278300
|
| gptkbp:subspecies |
xanthinuria type I
xanthinuria type II |
| gptkbp:symptom |
hematuria
renal colic xanthine stones |
| gptkbp:treatment |
increased fluid intake
low purine diet |
| gptkbp:bfsParent |
gptkb:XDH
|
| gptkbp:bfsLayer |
7
|