Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:porphyria |
| gptkbp:affects |
gptkb:nervous_system
liver |
| gptkbp:cause |
enzyme deficiency in heme biosynthesis
|
| gptkbp:diagnosedBy |
genetic testing
urine porphobilinogen test |
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:rare_disease |
true
|
| gptkbp:subspecies |
gptkb:acute_intermittent_porphyria
gptkb:ALA_dehydratase_deficiency_porphyria gptkb:hereditary_coproporphyria gptkb:variegate_porphyria |
| gptkbp:symptom |
confusion
vomiting abdominal pain hypertension muscle weakness seizures tachycardia |
| gptkbp:treatment |
glucose
intravenous hemin |
| gptkbp:triggeredBy |
gptkb:beer
fasting certain drugs hormonal changes |
| gptkbp:bfsParent |
gptkb:Porphyria
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
acute porphyria
|