Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:porphyria |
| gptkbp:alsoKnownAs |
gptkb:acute_intermittent_porphyria
|
| gptkbp:causedBy |
deficiency of porphobilinogen deaminase
|
| gptkbp:diagnosedBy |
urine porphobilinogen test
|
| gptkbp:firstDescribed |
gptkb:Sweden
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:symptom |
abdominal pain
neurological symptoms psychiatric symptoms |
| gptkbp:treatment |
gptkb:hemin
glucose |
| gptkbp:bfsParent |
gptkb:acute_intermittent_porphyria
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Swedish type porphyria
|