Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:category |
metabolic disorder
porphyria |
| gptkbp:cause |
deficiency of hydroxymethylbilane synthase
|
| gptkbp:gene |
gptkb:HMBS
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:282
|
| gptkbp:ICD-10_code |
E80.21
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:name |
gptkb:Acute_intermittent_porphyria
|
| gptkbp:OMIM |
176000
|
| gptkbp:onset |
adolescence to adulthood
|
| gptkbp:OrphanetURL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=282
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:beer
fasting drugs hormonal changes |
| gptkbp:symptom |
vomiting
abdominal pain neurological symptoms psychiatric symptoms |
| gptkbp:synonym |
gptkb:AIP
|
| gptkbp:treatment |
gptkb:hemin
glucose |
| gptkbp:bfsParent |
gptkb:Costello_syndrome
|
| gptkbp:bfsLayer |
6
|