Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:associatedWith |
gptkb:HMBS
|
| gptkbp:category |
porphyria
inborn error of metabolism |
| gptkbp:cause |
deficiency of hydroxymethylbilane synthase
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:110
|
| gptkbp:ICD-10_code |
E80.21
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D011169
|
| 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=110
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
abdominal pain
neurological symptoms psychiatric symptoms |
| gptkbp:synonym |
gptkb:AIP
|
| gptkbp:treatment |
gptkb:hemin
glucose |
| gptkbp:UMLS_CUI |
C0022674
|
| gptkbp:bfsParent |
gptkb:Bannayan–Riley–Ruvalcaba_syndrome
gptkb:Bannayan-Riley-Ruvalcaba_syndrome |
| gptkbp:bfsLayer |
6
|