Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:congenital_erythropoietic_porphyria |
| gptkbp:affects |
heme biosynthesis
|
| gptkbp:causedBy |
deficiency of uroporphyrinogen III synthase
|
| gptkbp:diagnosedBy |
urine porphyrin analysis
|
| gptkbp:firstDescribed |
gptkb:Hans_Gunther
1911 |
| https://www.w3.org/2000/01/rdf-schema#label |
Gunther disease
|
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
263700
|
| gptkbp:rareDisease |
true
|
| gptkbp:symptom |
gptkb:anemia
splenomegaly photosensitivity red urine erythrodontia |
| gptkbp:synonym |
gptkb:CEP
gptkb:congenital_erythropoietic_porphyria |
| gptkbp:treatment |
bone marrow transplantation
blood transfusions sun avoidance |
| gptkbp:bfsParent |
gptkb:congenital_erythropoietic_porphyria
|
| gptkbp:bfsLayer |
8
|