Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:complication |
chronic kidney disease
hepatocellular carcinoma |
| gptkbp:diagnosedBy |
urine porphobilinogen test
|
| gptkbp:discoveredBy |
Jan Waldenström
|
| gptkbp:firstDescribed |
1889
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA102
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA102
|
| gptkbp:ICD-10_code |
E80.21
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
HMBS gene
|
| gptkbp:name |
gptkb:Acute_intermittent_porphyria
|
| gptkbp:OMIM |
176000
|
| gptkbp:onset |
adolescence or adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:beer
fasting stress certain drugs hormonal changes |
| gptkbp:symptom |
abdominal pain
tachycardia hyponatremia neurological symptoms psychiatric symptoms |
| gptkbp:synonym |
gptkb:AIP
|
| gptkbp:treatment |
gptkb:hemin
glucose infusion |
| gptkbp:bfsParent |
gptkb:Multiple_System_Atrophy
|
| gptkbp:bfsLayer |
7
|