Statements (15)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
porphyria |
gptkbp:alsoKnownAs |
gptkb:acute_intermittent_porphyria
|
gptkbp:causedBy |
deficiency of porphobilinogen deaminase
|
gptkbp:diagnosedBy |
urine porphobilinogen test
|
gptkbp:firstDescribed |
gptkb:Sweden
|
https://www.w3.org/2000/01/rdf-schema#label |
Swedish type porphyria
|
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
|