Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:affects |
heme biosynthesis
|
| gptkbp:causedBy |
mutation in CPOX gene
|
| gptkbp:diagnosedBy |
urine porphyrin analysis
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA792
|
| https://www.w3.org/2000/01/rdf-schema#label |
coproporphyria hereditaria
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
121300
|
| gptkbp:symptom |
abdominal pain
photosensitivity neuropsychiatric symptoms |
| gptkbp:treatment |
symptomatic management
avoidance of triggers |
| gptkbp:bfsParent |
gptkb:hereditary_coproporphyria
|
| gptkbp:bfsLayer |
8
|